X

Use of cookies
This website stores cookies on your computer. These cookies are used to collect information about how you interact with our website and allow us to remember you. We use this information in order to improve and customize your browsing experience and for analytics and metrics about our visitors both on this website and other media. To find out more about the cookies we use, as well as to change their configuration, see our Cookie Policy.

CGT Exome Residual and Reproductive Risk

GeneConditionInheritanceEthnicityCarrier RateResidual RiskPatient - & Partner not testedPatient - & Partner -Patient - & Partner +Patient + & Partner not testedPatient + & Partner -Patient + & Partner +
AAASTriple-A syndrome (achalasia-addisonianism-alacrimia)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 436
1 in 549
1 in 1313
1 in 365
1 in 221
1 in 8,266
1 in 10431
1 in 24947
1 in 6935
1 in 4199
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 33064
1 in 41724
1 in 99788
1 in 27740
1 in 16796
1 in 1744
1 in 2196
1 in 5252
1 in 1460
1 in 884
1 in 33064
1 in 41724
1 in 99788
1 in 27740
1 in 16796
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
AARS1Epileptic encephalopathy, early infantile, type 29Autosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
AARS2Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failureAutosomal recessiveGeneral population<1 in 500<1 in 1091<1 in 1,000,000<1 in 1,000,000<1 in 4363<1 in 2000<1 in 43631 in 4
AASSHyperlysinemia, type 1 and type 2Autosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ABATGABA-transaminase deficiencyAutosomal recessiveGeneral population<1 in 500<1 in 917<1 in 1,000,000<1 in 1,000,000<1 in 3667<1 in 2000<1 in 36671 in 4
ABCA1Tangier diseaseAutosomal recessiveGeneral population<1 in 500<1 in 1583<1 in 1,000,000<1 in 1,000,000<1 in 6331<1 in 2000<1 in 63311 in 4
ABCA12Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 194
1 in 271
1 in 223
1 in 89
1 in 112
1 in 715
1 in 1003
1 in 825
1 in 329
1 in 414
1 in 554918
<1 in 1,000,000
1 in 735989
1 in 117231
1 in 185651
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 433754
1 in 686909
1 in 2860
1 in 4011
1 in 3300
1 in 1317
1 in 1658
1 in 776
1 in 1084
1 in 892
1 in 356
1 in 448
1 in 2860
1 in 4011
1 in 3300
1 in 1317
1 in 1658
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ABCA3Surfactant metabolism dysfunction, pulmonary, type 3Autosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ABCA4Stargardt disease type 1; Cone-rod dystrophy type 3Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 62
N/A
N/A
N/A
N/A
1 in 119
N/A
N/A
N/A
N/A
1 in 29571
N/A
N/A
N/A
N/A
1 in 56179
N/A
N/A
N/A
N/A
1 in 474
N/A
N/A
N/A
N/A
1 in 250
N/A
N/A
N/A
N/A
1 in 474
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ABCB11Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 276
1 in 295
1 in 153
1 in 654
1 in 390
1 in 614
1 in 658
1 in 341
1 in 1459
1 in 870
1 in 678366
1 in 776531
1 in 208880
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 465964
<1 in 1,000,000
<1 in 1,000,000
1 in 2458
1 in 2632
1 in 1365
1 in 5836
1 in 3480
1 in 1104
1 in 1180
1 in 612
1 in 2616
1 in 1560
1 in 2458
1 in 2632
1 in 1365
1 in 5836
1 in 3480
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ABCB4Cholestasis, progressive familial intrahepatic, type 3Autosomal recessiveCaucasian/European population1 in 601 in 1331 in 318281 in 703471 in 5301 in 2401 in 5301 in 4
ABCB7X-linked sideroblastic anemia and ataxia (XLSA/A)X-linkedGeneral population<1 in 500,000<1 in 1749999<1 in 1,000,000 - -1 in 4 - -
ABCC2Dubin-Johnson syndromeAutosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ABCC6Pseudoxanthoma elasticum; Generalized arterial calcification of infancy, type 2Autosomal recessiveGeneral population1 in 3771 in 1005<1 in 1,000,000<1 in 1,000,0001 in 40181 in 15071 in 40181 in 4
ABCC8Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive*Caucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 192
1 in 256
1 in 119
1 in 364
1 in 285
1 in 55
1 in 1,690
1 in 2264
1 in 1052
1 in 3219
1 in 2520
1 in 1760
<1 in 1,000,000
<1 in 1,000,000
1 in 500852
<1 in 1,000,000
<1 in 1,000,000
1 in 371712
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6759
1 in 9054
1 in 4209
1 in 12874
1 in 10080
1 in 7040
1 in 768
1 in 1024
1 in 476
1 in 1456
1 in 1140
1 in 211
1 in 6759
1 in 9054
1 in 4209
1 in 12874
1 in 10080
1 in 7040
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ABCD1AdrenoleukodystrophyX-linkedCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 14,000
N/A
1 in 20000
N/A
N/A
N/A
1 in 28,579
N/A
1 in 40829
N/A
N/A
N/A
1 in 114316
N/A
1 in 163315
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
-
-
ABCD4Methylmalonic aciduria and homocystinuria, cblJ typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 496
1 in 534
1 in 328
1 in 313
1 in 859
1 in 49,501
1 in 53400
1 in 32800
1 in 31300
1 in 85900
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 198004
1 in 213600
1 in 131200
1 in 125200
1 in 343600
1 in 1984
1 in 2136
1 in 1312
1 in 1252
1 in 3436
1 in 198004
1 in 213600
1 in 131200
1 in 125200
1 in 343600
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ABCG5SitosterolemiaAutosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ABCG8SitosterolemiaAutosomal recessiveCaucasian/European population1 in 3011 in 2542<1 in 1,000,000<1 in 1,000,0001 in 101691 in 12021 in 101691 in 4
ABHD12PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract)Autosomal recessiveGeneral population<1 in 500<1 in 1214<1 in 1,000,000<1 in 1,000,000<1 in 4856<1 in 2000<1 in 48561 in 4
ABHD5Chanarin-Dorfman syndromeAutosomal recessiveGeneral population<1 in 500<1 in 813<1 in 1,000,000<1 in 1,000,000<1 in 3251<1 in 2000<1 in 32511 in 4
ACAD8Isobutyryl-CoA dehydrogenase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ACAD9Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 309
1 in 784
1 in 2252
1 in 810
1 in 741
1 in 576
1 in 1463
1 in 4204
1 in 1512
1 in 1383
1 in 711854
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2304
1 in 5854
1 in 16815
1 in 6048
1 in 5533
1 in 1236
1 in 3136
1 in 9008
1 in 3240
1 in 2964
1 in 2304
1 in 5854
1 in 16815
1 in 6048
1 in 5533
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ACADMMedium-chain acyl-CoA dehydrogenase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 50
1 in 172
1 in 255
1 in 142
1 in 92
1 in 133
<1 in 488
1 in 1720
1 in 2550
1 in 1420
1 in 920
1 in 13300
1 in 96920
<1 in 1,000,000
<1 in 1,000,000
1 in 806560
1 in 338560
<1 in 1,000,000
1 in 951643
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1951
1 in 6880
1 in 10200
1 in 5680
1 in 3680
1 in 53200
1 in 199
1 in 688
1 in 1020
1 in 568
1 in 368
1 in 532
1 in 1951
1 in 6880
1 in 10200
1 in 5680
1 in 3680
1 in 53200
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ACADSShort-chain acyl-CoA dehydrogenase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 102
1 in 52
N/A
1 in 51
1 in 100
1 in 1,015
1 in 520
N/A
1 in 510
1 in 1000
1 in 415474
1 in 108160
N/A
1 in 104040
1 in 400000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 4059
1 in 2080
N/A
1 in 2040
1 in 4000
1 in 409
1 in 208
N/A
1 in 204
1 in 400
1 in 4059
1 in 2080
N/A
1 in 2040
1 in 4000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ACADSBShort/branched-chain acyl-CoA dehydrogenase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
1 in 1,125
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 4500
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 4500
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ACADVLVery long-chain acyl-CoA dehydrogenase (VLCAD) deficiency Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 112
1 in 146
1 in 201
1 in 73
1 in 267
1 in 698
1 in 913
1 in 1256
1 in 456
1 in 1669
1 in 313792
1 in 532900
<1 in 1,000,000
1 in 133225
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 832656
<1 in 1,000,000
1 in 2790
1 in 3650
1 in 5025
1 in 1825
1 in 6675
1 in 450
1 in 584
1 in 804
1 in 292
1 in 1068
1 in 2790
1 in 3650
1 in 5025
1 in 1825
1 in 6675
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ACAT1Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency)Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
1 in 1197
1 in 293
1 in 1378
1 in 173
1 in 769
1 in 1842
1 in 451
1 in 2120
1 in 266
<1 in 1,000,000
<1 in 1,000,000
1 in 528302
<1 in 1,000,000
1 in 184178
<1 in 1,000,000
<1 in 1,000,000
1 in 812772
<1 in 1,000,000
1 in 283351
1 in 3078
1 in 7366
1 in 1803
1 in 8480
1 in 1065
1 in 2002
1 in 4788
1 in 1172
1 in 5512
1 in 692
1 in 3078
1 in 7366
1 in 1803
1 in 8480
1 in 1065
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ACERenal tubular dysgenesisAutosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ACO2Infantile cerebellar-retinal degenerationAutosomal recessiveGeneral population<1 in 500<1 in 889<1 in 1,000,000<1 in 1,000,000<1 in 3556<1 in 2000<1 in 35561 in 4
ACOX1Peroxisomal acyl-CoA oxidase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,394
1 in 1071
N/A
1 in 3848
1 in 3358
1 in 7,180
1 in 3213
N/A
1 in 11544
1 in 10074
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 28720
1 in 12852
N/A
1 in 46176
1 in 40296
1 in 9576
1 in 4284
N/A
1 in 15392
1 in 13432
1 in 28720
1 in 12852
N/A
1 in 46176
1 in 40296
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ACOX2Bile acid synthesis defect, congenital, type 6Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ACP4Amelogenesis imperfecta, type 1JAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ACP5Spondyloenchondrodysplasia with immune dysregulationAutosomal recessiveGeneral population<1 in 500<1 in 1375<1 in 1,000,000<1 in 1,000,000<1 in 5499<1 in 2000<1 in 54991 in 4
ACSF3Combined malonic and methylmalonic aciduriaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 67
1 in 126
1 in 274
1 in 616
1 in 193
1 in 90
1 in 170
1 in 369
1 in 830
1 in 260
1 in 24108
1 in 85592
1 in 404758
<1 in 1,000,000
1 in 200821
1 in 32369
1 in 115364
1 in 545543
<1 in 1,000,000
1 in 270671
1 in 360
1 in 679
1 in 1477
1 in 3321
1 in 1041
1 in 268
1 in 504
1 in 1096
1 in 2464
1 in 772
1 in 360
1 in 679
1 in 1477
1 in 3321
1 in 1041
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ACSL4Mental retardation, X-linked, type 63X-linkedGeneral population1 in 450001 in 1799971 in 719988 - -1 in 4 - -
ACTA1Nemaline myopathy 3; Congenital fiber-type disproportion myopathy 1Autosomal recessive*General population1 in 1121 in 1421 in 637841 in 806411 in 5681 in 4491 in 5681 in 4
ACY1Aminoacylase 1 deficiencyAutosomal recessiveGeneral population<1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
ADASevere combined immunodeficiency due to adenosine deaminase deficiency (ADA)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 390
1 in 91
1 in 1275
1 in 282
1 in 250
1 in 2,335
1 in 546
1 in 7650
1 in 1692
1 in 1500
<1 in 1,000,000
1 in 198744
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 9340
1 in 2184
1 in 30600
1 in 6768
1 in 6000
1 in 1560
1 in 364
1 in 5100
1 in 1128
1 in 1000
1 in 9340
1 in 2184
1 in 30600
1 in 6768
1 in 6000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ADA2Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ADAM9Cone-rod dystrophy 9Autosomal recessiveGeneral population1 in 801 in 1091 in 348061 in 476941 in 4371 in 3191 in 4371 in 4
ADAMTS10Weill-Marchesani syndrome, type 1, recessiveAutosomal recessiveGeneral population1 in 801 in 1851 in 588421 in 1363131 in 7381 in 3191 in 7381 in 4
ADAMTS13Thrombotic thrombocytopenic purpura, familial (Schulman-Upshaw syndrome)Autosomal recessiveGeneral population1 in 3341 in 5881 in 785913<1 in 1,000,0001 in 23541 in 13361 in 23541 in 4
ADAMTS17Weill-Marchesani syndrome, type 4, recessiveAutosomal recessiveGeneral population1 in 801 in 7870<1 in 1,000,000<1 in 1,000,0001 in 314791 in 3191 in 314791 in 4
ADAMTS18Microcornea, myopic chorioretinal atrophy, and telecanthusAutosomal recessiveGeneral population1 in 1121 in 1681 in 754511 in 1128401 in 6721 in 4491 in 6721 in 4
ADAMTS2Ehlers-Danlos syndrome, dermatosparaxis typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 2,432
1 in 2434
1 in 631
1 in 3796
1 in 4193
1 in 217
1 in 4,053
1 in 4057
1 in 1052
1 in 6327
1 in 6988
1 in 7107
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 16211
1 in 16227
1 in 4207
1 in 25307
1 in 27953
1 in 28430
1 in 9728
1 in 9736
1 in 2524
1 in 15184
1 in 16772
1 in 853
1 in 16211
1 in 16227
1 in 4207
1 in 25307
1 in 27953
1 in 28430
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ADAMTSL2Geleophysic dysplasia type 1Autosomal recessiveGeneral population<1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
ADAMTSL4Ectopia lentis et pupillae; Ectopia lentis, isolated, type 2Autosomal recessiveGeneral population<1 in 500<1 in 2748<1 in 1,000,000<1 in 1,000,000<1 in 10993<1 in 2000<1 in 109931 in 4
ADARAicardi-Goutieres syndrome, type 6Autosomal recessiveGeneral population<1 in 500<1 in 857<1 in 1,000,000<1 in 1,000,000<1 in 3429<1 in 2000<1 in 34291 in 4
ADAT3Mental retardation, autosomal recessive 36Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ADD3Cerebral palsy, spastic quadriplegic, 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ADGRG1Polymicrogyria, bilateral frontoparietalAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,033
1 in 917
1 in 1433
1 in 641
1 in 1525
1 in 3,557
1 in 1605
1 in 2508
1 in 1122
1 in 2669
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 14228
1 in 6419
1 in 10031
1 in 4487
1 in 10675
1 in 8132
1 in 3668
1 in 5732
1 in 2564
1 in 6100
1 in 14228
1 in 6419
1 in 10031
1 in 4487
1 in 10675
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ADGRG2Vas deferens, congenital bilateral aplasia of, X-linkedX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
ADGRG6Lethal congenital contracture syndrome 9Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ADGRV1Usher syndrome, type 2CAutosomal recessive, digenic inheritance (PDZD7 gene)General
African/African American
East Asian
South Asian
Latino
1 in 80
1 in 72
1 in 134
1 in 30
1 in 64
1 in 147
1 in 134
1 in 249
1 in 56
1 in 119
1 in 46798
1 in 38510
1 in 133387
1 in 6686
1 in 30427
1 in 86407
1 in 71518
1 in 247720
1 in 12416
1 in 56508
1 in 588
1 in 535
1 in 995
1 in 223
1 in 475
1 in 318
1 in 288
1 in 536
1 in 120
1 in 256
1 in 588
1 in 535
1 in 995
1 in 223
1 in 475
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ADKHypermethioninemia due to adenosine kinase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
1 in 1,498
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 5992
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
1 in 5992
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ADSLAdenylosuccinase deficiencyAutosomal recessiveGeneral population<1 in 500<1 in 1033<1 in 1,000,000<1 in 1,000,000<1 in 4133<1 in 2000<1 in 41331 in 4
ADSS1Myopathy, distal, 5Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
AFF2Mental retardation, X-linked, FRAXE typeX-linkedGeneral population1 in 625011 in 1250011 in 500004 - -1 in 4 - -
AFG3L2Spastic ataxia, type 5, autosomal recessiveAutosomal recessiveGeneral population<1 in 500<1 in 760<1 in 1,000,000<1 in 1,000,000<1 in 3041<1 in 2000<1 in 30411 in 4
AFPAlpha-fetoprotein deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
AGAAspartylglucosaminuria (glycosylasparaginase deficiency)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 975
1 in 1650
1 in 1724
1 in 2198
1 in 1526
1 in 3,442
1 in 5830
1 in 6091
1 in 7766
1 in 5392
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 13770
1 in 23320
1 in 24366
1 in 31065
1 in 21567
1 in 3900
1 in 6600
1 in 6896
1 in 8792
1 in 6104
1 in 13770
1 in 23320
1 in 24366
1 in 31065
1 in 21567
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
AGBL5Retinitis pigmentosa 75Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
AGKCataract 38, autosomal recessive; Sengers syndromeAutosomal recessiveGeneral population<1 in 500<1 in 1437<1 in 1,000,000<1 in 1,000,000<1 in 5748<1 in 2000<1 in 57481 in 4
AGLGlycogen storage disease, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 259
1 in 191
1 in 549
1 in 510
1 in 470
<1 in 500
1 in 34
1 in 1,083
1 in 801
1 in 2302
1 in 2139
1 in 1971
1 in 167167
1 in 1133
<1 in 1,000,000
1 in 611939
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 154133
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4332
1 in 3204
1 in 9209
1 in 8555
1 in 7884
1 in 668667
1 in 4533
1 in 1036
1 in 764
1 in 2196
1 in 2040
1 in 1880
1 in 20060
1 in 136
1 in 4332
1 in 3204
1 in 9209
1 in 8555
1 in 7884
1 in 668667
1 in 4533
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
AGPAT2Congenital generalized lipodystrophy (Berardinelli-Seip syndrome)Autosomal recessiveCaucasian/European population1 in 20321 in 8802<1 in 1,000,000<1 in 1,000,0001 in 352081 in 81281 in 352081 in 4
AGPSRhizomelic chondrodysplasia punctata, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 18,591
1 in 151
1 in 165
1 in 592
1 in 260
<1 in 1,000,000
1 in 15100
1 in 16500
1 in 59200
1 in 26000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7436004
1 in 60400
1 in 66000
1 in 236800
1 in 104000
1 in 74364
1 in 604
1 in 660
1 in 2368
1 in 1040
1 in 7436004
1 in 60400
1 in 66000
1 in 236800
1 in 104000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
AGRNMyasthenic syndrome, congenital, type 8Autosomal recessiveGeneral population<1 in 500<1 in 929<1 in 1,000,000<1 in 1,000,000<1 in 3715<1 in 2000<1 in 37151 in 4
AGTRenal tubular dysgenesisAutosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
AGTR1Renal tubular dysgenesisAutosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
AGXTHyperoxaluria, primary, type 1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 174
1 in 326
1 in 134
1 in 247
1 in 416
>1 in 5,758
1 in 10867
1 in 4467
1 in 8233
1 in 13867
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 23032
1 in 43467
1 in 17867
1 in 32933
1 in 55467
1 in 695
1 in 1304
1 in 536
1 in 988
1 in 1664
1 in 23032
1 in 43467
1 in 17867
1 in 32933
1 in 55467
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
AHCYHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolaseAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 708
N/A
N/A
N/A
N/A
1 in 2,122
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 8488
N/A
N/A
N/A
N/A
1 in 2832
N/A
N/A
N/A
N/A
1 in 8488
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
AHI1Joubert syndrome, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 334
1 in 151
1 in 255
1 in 636
1 in 172
1 in 706
1 in 320
1 in 540
1 in 1347
1 in 364
1 in 943452
1 in 193138
1 in 550800
<1 in 1,000,000
1 in 250594
<1 in 1,000,000
1 in 408998
<1 in 1,000,000
<1 in 1,000,000
1 in 530669
1 in 2825
1 in 1279
1 in 2160
1 in 5387
1 in 1457
1 in 1336
1 in 604
1 in 1020
1 in 2544
1 in 688
1 in 2825
1 in 1279
1 in 2160
1 in 5387
1 in 1457
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
AICDAImmunodeficiency with hyper-IgM, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
AIFM1Cowchock syndrome; Deafness, X-linked, type 5X-linkedGeneral population<1 in 500,000<1 in 695652<1 in 1,000,000 - -1 in 4 - -
AIMP1Leukodystrophy, hypomyelinating, type 3Autosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
AIMP2Leukodystrophy, hypomyelinating, 17Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
AIPL1Leber congenital amaurosis, type 4 Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 160
1 in 101
1 in 1149
1 in 31
1 in 524
1 in 189
1 in 119
1 in 1358
1 in 37
1 in 619
1 in 120902
1 in 48223
<1 in 1,000,000
1 in 4543
<1 in 1,000,000
1 in 142747
1 in 56991
<1 in 1,000,000
1 in 5369
<1 in 1,000,000
1 in 756
1 in 477
1 in 5432
1 in 147
1 in 2477
1 in 640
1 in 404
1 in 4596
1 in 124
1 in 2096
1 in 756
1 in 477
1 in 5432
1 in 147
1 in 2477
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
AIREAutoimmune polyendocrinopathy syndrome, type 1Autosomal recessive*Caucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 209
1 in 437
1 in 313
1 in 979
1 in 422
1 in 500
1 in 27
1 in 1,665
1 in 3496
1 in 2504
1 in 7832
1 in 3376
1 in 1667
1 in 2700
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 291600
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6660
1 in 13984
1 in 10016
1 in 31328
1 in 13504
1 in 6667
1 in 10800
1 in 836
1 in 1748
1 in 1252
1 in 3916
1 in 1688
1 in 2000
1 in 108
1 in 6660
1 in 13984
1 in 10016
1 in 31328
1 in 13504
1 in 6667
1 in 10800
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
AK1Hemolytic anemia due to adenylate kinase deficiencyAutosomal recessiveGeneral population<1 in 500<1 in 1749<1 in 1,000,000<1 in 1,000,000<1 in 6997<1 in 2000<1 in 69971 in 4
AK2Reticular dysgenesisAutosomal recessiveCaucasian/European population1 in 2321 in 6481 in 601158<1 in 1,000,0001 in 25911 in 9281 in 25911 in 4
AKR1C246,XY disorder of sex development due to testicular 17,20-desmolase deficiencyAutosomal recessiveGeneral population<1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
AKR1D1Bile acid synthesis defect, congenital, type 2Autosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ALADPorphyria, acute hepaticAutosomal recessiveGeneral population<1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
ALAS2X-linked sideroblastic anemia, type 1 (XLSA or SIDBA1)X-linkedGeneral population<1 in 500,000<1 in 1928571<1 in 1,000,000 - -1 in 4 - -
ALBAnalbuminemiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ALDH18A1Spastic paraplegia, type 9B, autosomal recessive; De Barsy syndromeAutosomal recessiveGeneral population<1 in 500<1 in 1038<1 in 1,000,000<1 in 1,000,000<1 in 4154<1 in 2000<1 in 41541 in 4
ALDH1A3Microphthalmia, isolated 8Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ALDH3A2Sjogren-Larsson syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 718
1 in 825
1 in 816
1 in 1152
1 in 672
1 in 4,231
1 in 4868
1 in 4814
1 in 6797
1 in 3965
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 16925
1 in 19470
1 in 19258
1 in 27187
1 in 15859
1 in 2872
1 in 3300
1 in 3264
1 in 4608
1 in 2688
1 in 16925
1 in 19470
1 in 19258
1 in 27187
1 in 15859
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ALDH4A1Hyperprolinemia, type 2Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
1 in 49,951
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 199804
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 199804
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ALDH5A1Succinic semialdehyde dehydrogenase deficiencyAutosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ALDH6A1Methylmalonate semialdehyde dehydrogenase deficiencyAutosomal recessiveGeneral population<1 in 500<1 in 1167<1 in 1,000,000<1 in 1,000,000<1 in 4666<1 in 2000<1 in 46661 in 4
ALDH7A1Epilepsy, pyridoxine-dependentAutosomal recessiveCaucasian/European population1 in 881 in 1841 in 646621 in 1349831 in 7351 in 3521 in 7351 in 4
ALDOAGlycogen storage disease type 12Autosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ALDOBFructose intolerance, hereditaryAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 67
1 in 250
1 in 705
1 in 394
1 in 235
1 in 298
1 in 1127
1 in 3177
1 in 1776
1 in 1059
1 in 79989
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 995606
1 in 356325
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1194
1 in 4507
1 in 12710
1 in 7103
1 in 4237
1 in 268
1 in 1000
1 in 2820
1 in 1576
1 in 940
1 in 1194
1 in 4507
1 in 12710
1 in 7103
1 in 4237
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ALG1Congenital disorder of glycosylation, type 1KAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 87
1 in 65
1 in 121
1 in 57
1 in 90
1 in 130
1 in 98
1 in 182
1 in 86
1 in 135
1 in 45240
1 in 25350
1 in 87846
1 in 19494
1 in 48600
1 in 67600
1 in 38025
1 in 131769
1 in 29241
1 in 72900
1 in 520
1 in 390
1 in 726
1 in 342
1 in 540
1 in 348
1 in 260
1 in 484
1 in 228
1 in 360
1 in 520
1 in 390
1 in 726
1 in 342
1 in 540
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ALG11Congenital disorder of glycosylation, type 1PAutosomal recessiveGeneral population<1 in 500<1 in 786<1 in 1,000,000<1 in 1,000,000<1 in 3144<1 in 2000<1 in 31441 in 4
ALG12Congenital disorder of glycosylation, type 1GAutosomal recessiveGeneral population<1 in 500<1 in 857<1 in 1,000,000<1 in 1,000,000<1 in 3429<1 in 2000<1 in 34291 in 4
ALG13Developmental and epileptic encephalopathy, type 36X-linkedGeneral population<1 in 500,000<1 in 625000<1 in 1,000,000 - -1 in 4 - -
ALG2Myasthenic syndrome, congenital, type 14, with tubular aggregatesAutosomal recessiveGeneral population<1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
ALG3Congenital disorder of glycosylation, type 1DAutosomal recessiveGeneral population<1 in 500ReducedReducedReducedReduced<1 in 2000Reduced1 in 4
ALG6Congenital disorder of glycosylation, type 1CAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 301
1 in 432
1 in 529
1 in 809
1 in 1405
1 in 421
1 in 605
1 in 741
1 in 1133
1 in 1967
1 in 506884
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 708964
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1684
1 in 2419
1 in 2962
1 in 4530
1 in 7868
1 in 1204
1 in 1728
1 in 2116
1 in 3236
1 in 5620
1 in 1684
1 in 2419
1 in 2962
1 in 4530
1 in 7868
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ALG8Congenital disorder of glycosylation, type 1HAutosomal recessiveGeneral population<1 in 500<1 in 778<1 in 1,000,000<1 in 1,000,000<1 in 3112<1 in 2000<1 in 31121 in 4
ALG9Congenital disorder of glycosylation, type 1L; Gillessen-Kaesbach-Nishimura syndromeAutosomal recessiveGeneral population<1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
ALMS1Alström syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 168
1 in 202
1 in 107
1 in 256
1 in 352
1 in 488
1 in 589
1 in 312
1 in 747
1 in 1027
1 in 327992
1 in 476047
1 in 133572
1 in 764587
<1 in 1,000,000
1 in 952901
<1 in 1,000,000
1 in 389584
<1 in 1,000,000
<1 in 1,000,000
1 in 1952
1 in 2357
1 in 1248
1 in 2987
1 in 4107
1 in 672
1 in 808
1 in 428
1 in 1024
1 in 1408
1 in 1952
1 in 2357
1 in 1248
1 in 2987
1 in 4107
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ALOX12BIchthyosis, congenital, autosomal recessive, type 2Autosomal recessiveCaucasian/European population1 in 4751 in 859<1 in 1,000,000<1 in 1,000,0001 in 34351 in 19001 in 34351 in 4
ALOXE3Ichthyosis, congenital, autosomal recessive, type 3Autosomal recessiveCaucasian/European population1 in 1841 in 3871 in 2850771 in 6001081 in 15491 in 7361 in 15491 in 4
ALPK3Cardiomyopathy, familial hypertrophic 27Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ALPLHypophosphatasia, infantile/childhoodAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 274
1 in 588
1 in 131
1 in 810
1 in 447
1 in 1,348
1 in 2901
1 in 646
1 in 3996
1 in 2205
<1 in 1,000,000
<1 in 1,000,000
1 in 338644
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5391
1 in 11603
1 in 2585
1 in 15984
1 in 8821
1 in 1096
1 in 2352
1 in 524
1 in 3240
1 in 1788
1 in 5391
1 in 11603
1 in 2585
1 in 15984
1 in 8821
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ALS2Amyotrophic lateral sclerosis, type 2, juvenile; Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascendingAutosomal recessiveGeneral population<1 in 500<1 in 1538<1 in 1,000,000<1 in 1,000,000<1 in 6152<1 in 2000<1 in 61521 in 4
ALX1Frontonasal dysplasia, type 3Autosomal recessiveGeneral population<1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
ALX3Frontonasal dysplasia, type 1Autosomal recessiveGeneral population<1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
ALX4Frontonasal dysplasia, type 2Autosomal recessiveGeneral population<1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
AMACRBile acid synthesis defect, congenital, type 4; Alpha-methylacyl-CoA racemase deficiencyAutosomal recessiveGeneral population<1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
AMBNAmelogenesis imperfecta, type IFAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
AMELXAmelogenesis imperfecta, type 1E (hypomaturation type)X-linkedGeneral population≤1 in 500<1 in 916667<1 in 1,000,000 - -1 in 4 - -
AMER1Osteopathia striata with cranial sclerosisX-linkedGeneral population<1 in 500,000<1 in 785715<1 in 1,000,000 - -1 in 4 - -
AMHPersistent Mullerian duct syndrome, type 1Autosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
AMHR2Persistent Mullerian duct syndrome, type IIAutosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
AMMECR1Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosisX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
AMNMegaloblastic anemia 1 (Imerslund-Grasbeck syndrome)Autosomal recessiveGeneral population≤1 in 500<1 in 906<1 in 1,000,000<1 in 1,000,000<1 in 3625<1 in 2000<1 in 36251 in 4
AMPD1Myopathy due to myoadenylate deaminase deficiencyAutosomal recessiveCaucasian/European population1 in 671 in 6568<1 in 1,000,000<1 in 1,000,0001 in 262711 in 2671 in 262711 in 4
AMPD2Pontocerebellar hypoplasia, type 9Autosomal recessiveCaucasian/European population1 in 488ReducedReducedReducedReduced1 in 1952Reduced1 in 4
AMTGlycine encephalopathyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 779
1 in 801
1 in 1437
1 in 905
1 in 390
1 in 3,891
1 in 4005
1 in 7185
1 in 4525
1 in 1950
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 15564
1 in 16020
1 in 28740
1 in 18100
1 in 7800
1 in 3116
1 in 3204
1 in 5748
1 in 3620
1 in 1560
1 in 15564
1 in 16020
1 in 28740
1 in 18100
1 in 7800
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ANGPTL3Hypobetalipoproteinemia, familial, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 700<1 in 1,000,000<1 in 1,000,000<1 in 2801<1 in 2000<1 in 28011 in 4
ANKS6Nephronophthisis 16Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ANO10Spinocerebellar ataxia, autosomal recessive, type 10Autosomal recessiveGeneral population<1 in 500<1 in 1285<1 in 1,000,000<1 in 1,000,000<1 in 5142<1 in 2000<1 in 51421 in 4
ANO5Limb-girdle muscular dystrophy, type 12 (LGMD R12)Autosomal recessiveGeneral population<1 in 500<1 in 1234<1 in 1,000,000<1 in 1,000,000<1 in 4937<1 in 2000<1 in 49371 in 4
ANO6Scott syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ANOS1Hypogonadotropic hypogonadism, type 1, with or without anosmia (Kallmann syndrome 1)X-linkedGeneral population1 in 100011 in 165011 in 66003 - -1 in 4 - -
ANTXR1GAPO syndromeAutosomal recessiveGeneral population<1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
ANTXR2Hyaline fibromatosis syndromeAutosomal recessiveCaucasian/European population1 in 3151 in 5941 in 748580<1 in 1,000,0001 in 23761 in 12601 in 23761 in 4
AP1S1MEDNIK syndromeAutosomal recessiveGeneral population<1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
AP1S2Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500,000
N/A
N/A
N/A
N/A
1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
AP3B1Hermansky-Pudlak syndrome, type 2Autosomal recessiveCaucasian/European population1 in 37471 in 12488<1 in 1,000,000<1 in 1,000,0001 in 499511 in 149881 in 499511 in 4
AP3B2Epileptic encephalopathy, early infantile, type 48Autosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
AP3D1 ?Hermansky-Pudlak syndrome 10Autosomal recessiveCaucasian/European population1 in 2302ReducedReducedReducedReduced1 in 9208Reduced1 in 4
AP4B1Spastic paraplegia, type 47, autosomal recessiveAutosomal recessiveGeneral population<1 in 500<1 in 1143<1 in 1,000,000<1 in 1,000,000<1 in 4571<1 in 2000<1 in 45711 in 4
AP4E1Spastic paraplegia 51, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
AP4M1Spastic paraplegia, type 50, autosomal recessiveAutosomal recessiveGeneral population<1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
AP4S1Spastic paraplegia, type 52, autosomal recessiveAutosomal recessiveGeneral population<1 in 500<1 in 1666<1 in 1,000,000<1 in 1,000,000<1 in 6664<1 in 2000<1 in 66641 in 4
AP5Z1Spastic paraplegia, type 48, autosomal recessiveAutosomal recessiveGeneral population<1 in 500<1 in 654<1 in 1,000,000<1 in 1,000,000<1 in 2617<1 in 2000<1 in 26171 in 4
APOC2Hyperlipoproteinemia, type 1BAutosomal recessiveGeneral population≤1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
APOESea-blue histiocyte diseaseAutosomal recessiveGeneral population<1 in 500<1 in 731<1 in 1,000,000<1 in 1,000,000<1 in 2924<1 in 2000<1 in 29241 in 4
APRTAdenine phosphoribosyltransferase deficiencyAutosomal recessiveCaucasian/European population1 in 1251 in 4141 in 2071671 in 6866881 in 16571 in 5001 in 16571 in 4
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAutosomal recessiveEurope (Portugal) population1 in 2471 in 2219<1 in 1,000,000<1 in 1,000,0001 in 88761 in 9901 in 88761 in 4
AQP2Diabetes insipidus, nephrogenic, type 2Autosomal recessive*Caucasian/European
African/African American
East Asian
South Asian
Latino
1 in 721
1 in 864
1 in 676
1 in 3078
1 in 458
1 in 1,773
1 in 2127
1 in 1664
1 in 7577
1 in 1127
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7093
1 in 8507
1 in 6656
1 in 30306
1 in 4510
1 in 2884
1 in 3456
1 in 2704
1 in 12312
1 in 1832
1 in 7093
1 in 8507
1 in 6656
1 in 30306
1 in 4510
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ARAndrogen insensitivity syndrome, completeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 16,639
N/A
N/A
N/A
N/A
1 in 37,670
N/A
N/A
N/A
N/A
1 in 150679
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
ARFGEF2Periventricular heterotopia with microcephalyAutosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ARG1Argininemia (arginase deficiency)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,559
1 in 497
1 in 4596
1 in 7655
1 in 775
1 in 6,745
1 in 1310
1 in 12117
1 in 20181
1 in 2043
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 26979
1 in 5241
1 in 48467
1 in 80725
1 in 8173
1 in 10236
1 in 1988
1 in 18384
1 in 30620
1 in 3100
1 in 26979
1 in 5241
1 in 48467
1 in 80725
1 in 8173
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ARHGDIANephrotic syndrome, type 8Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ARHGEF18Retinitis pigmentosa 78Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ARHGEF9Developmental and epileptic encephalopathy, type 8X-linkedGeneral population<1 in 500,000<1 in 678572<1 in 1,000,000 - -1 in 4 - -
ARL13BJoubert syndrome type 8Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 72
1 in 45
1 in 65
1 in 52
1 in 41
1 in 119
1 in 75
1 in 108
1 in 87
1 in 68
1 in 34368
1 in 13500
1 in 28167
1 in 18027
1 in 11207
1 in 56962
1 in 22500
1 in 46944
1 in 30044
1 in 18678
1 in 477
1 in 300
1 in 433
1 in 347
1 in 273
1 in 288
1 in 180
1 in 260
1 in 208
1 in 164
1 in 477
1 in 300
1 in 433
1 in 347
1 in 273
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ARL2BPRetinitis pigmentosa with or without situs inversusAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ARL6Bardet-Biedl syndrome, type 3Autosomal recessiveCaucasian/European population1 in 29461 in 13744<1 in 1,000,000<1 in 1,000,0001 in 549771 in 117841 in 549771 in 4
ARMC9Joubert syndrome 30Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ARPC1BPlatelet abnormalities with eosinophilia and immune-mediated inflammatory diseaseAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ARSAMetachromatic leukodystrophyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 135
1 in 239
1 in 364
1 in 371
1 in 503
1 in 815
1 in 46
1 in 2,686
1 in 4780
1 in 7280
1 in 7420
1 in 10060
1 in 4060
1 in 1533
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 282133
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 10743
1 in 19120
1 in 29120
1 in 29680
1 in 40240
1 in 16240
1 in 6133
1 in 541
1 in 956
1 in 1456
1 in 1484
1 in 2012
1 in 3248
1 in 184
1 in 10743
1 in 19120
1 in 29120
1 in 29680
1 in 40240
1 in 16240
1 in 6133
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ARSBMucopolysaccharidosis, type 6 (Maroteaux-Lamy syndrome)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 314
1 in 664
1 in 1437
1 in 2198
1 in 4195
1 in 1,023
1 in 2169
1 in 4694
1 in 7180
1 in 13704
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4094
1 in 8676
1 in 18777
1 in 28721
1 in 54815
1 in 1256
1 in 2656
1 in 5748
1 in 8792
1 in 16780
1 in 4094
1 in 8676
1 in 18777
1 in 28721
1 in 54815
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ARSLChondrodysplasia punctata, brachytelephalangicX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 250,000
N/A
N/A
N/A
N/A
1 in 477,528
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
ARV1Epileptic encephalopathy, early infantile, 38Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ARXEpileptic encephalopathy, early infantile, type 1; ARX-related developmental disordersX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 37,038
N/A
N/A
N/A
N/A
1 in 64,815
N/A
N/A
N/A
N/A
1 in 259261
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
ASAH1Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsyAutosomal recessiveGeneral population1 in 5001 in 598<1 in 1,000,000<1 in 1,000,0001 in 23931 in 20021 in 23931 in 4
ASLArgininosuccinic aciduriaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 117
1 in 375
1 in 444
1 in 527
1 in 437
1 in 372
1 in 1199
1 in 1420
1 in 1685
1 in 1397
1 in 174063
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 553328
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1488
1 in 4797
1 in 5679
1 in 6741
1 in 5590
1 in 468
1 in 1500
1 in 1776
1 in 2108
1 in 1748
1 in 1488
1 in 4797
1 in 5679
1 in 6741
1 in 5590
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ASNSAsparagine synthetase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 2,023
1 in 16915
1 in 570
1 in 765
1 in 795
<1 in 500
1 in 80
1 in 2,567
1 in 21469
1 in 723
1 in 971
1 in 1009
1 in 167833
1 in 2667
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 853333
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 10270
1 in 85876
1 in 2894
1 in 3884
1 in 4036
1 in 671333
1 in 10667
1 in 8092
1 in 67660
1 in 2280
1 in 3060
1 in 3180
1 in 20140
1 in 320
1 in 10270
1 in 85876
1 in 2894
1 in 3884
1 in 4036
1 in 671333
1 in 10667
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ASPACanavan diseaseAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 486
1 in 741
N/A
1 in 1923
1 in 899
1 in 46
1 in 1,458
1 in 2226
N/A
1 in 5778
1 in 2701
1 in 4768
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 909230
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5833
1 in 8906
N/A
1 in 23111
1 in 10804
1 in 19071
1 in 1944
1 in 2964
N/A
1 in 7692
1 in 3596
1 in 191
1 in 5833
1 in 8906
N/A
1 in 23111
1 in 10804
1 in 19071
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ASPHTraboulsi syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ASPMPrimary microcephaly type 5, autosomal recessiveAutosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ASS1Citrullinemia, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 323
1 in 339
1 in 809
1 in 192
1 in 304
1 in 1,124
1 in 1182
1 in 2820
1 in 669
1 in 1060
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 514040
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4494
1 in 4727
1 in 11281
1 in 2677
1 in 4239
1 in 1292
1 in 1356
1 in 3236
1 in 768
1 in 1216
1 in 4494
1 in 4727
1 in 11281
1 in 2677
1 in 4239
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ATAD1Hyperekplexia 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ATCAYAtaxia, cerebellar, Cayman typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ATF6Achromatopsia, type 7Autosomal recessiveGeneral population1 in 801 in 1271 in 404491 in 644141 in 5081 in 3191 in 5081 in 4
ATICAICA-ribosiduria due to ATIC deficiencyAutosomal recessiveGeneral population<1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
ATMAtaxia-telangiectasiaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 150
1 in 200
1 in 152
1 in 211
1 in 240
1 in 180
1 in 675
1 in 905
1 in 688
1 in 955
1 in 1086
1 in 18000
1 in 405051
1 in 723849
1 in 418095
1 in 805662
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2700
1 in 3619
1 in 2751
1 in 3818
1 in 4343
1 in 72000
1 in 600
1 in 800
1 in 608
1 in 844
1 in 960
1 in 720
1 in 2700
1 in 3619
1 in 2751
1 in 3818
1 in 4343
1 in 72000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ATOH7Persistent hyperplastic primary vitreous, autosomal recessiveAutosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
ATP11C?Hemolytic anemia, congenital, X-linkedX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
ATP13A2Kufor-Rakeb syndrome; Spastic paraplegia, type 78, autosomal recessiveAutosomal recessiveCaucasian/European population1 in 2211 in 5141 in 454671<1 in 1,000,0001 in 20571 in 8841 in 20571 in 4
ATP2A1Brody myopathyAutosomal recessiveGeneral population<1 in 500<1 in 822<1 in 1,000,000<1 in 1,000,000<1 in 3286<1 in 2000<1 in 32861 in 4
ATP2B3?Spinocerebellar ataxia, X-linked 1 (SCAX1)X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
ATP5F1EMitochondrial complex V (ATP synthase) deficiency, nuclear type 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ATP6AP1Immunodeficiency 47X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
ATP6AP2Mental retardation, X-linked, syndromic, Hedera typeX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
ATP6V0A2Cutis laxa, autosomal recessive, type 2A; Wrinkly skin syndrome Autosomal recessiveCaucasian/European population1 in 6001 in 3395<1 in 1,000,000<1 in 1,000,0001 in 135811 in 24001 in 135811 in 4
ATP6V0A4Renal tubular acidosis, distal, autosomal recessiveAutosomal recessiveCaucasian/European population1 in 8531 in 1279<1 in 1,000,000<1 in 1,000,0001 in 51161 in 34121 in 51161 in 4
ATP6V1ACutis laxa, autosomal recessive, type 2DAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ATP6V1B1Renal tubular acidosis with deafnessAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 1,092
1 in 1219
1 in 851
1 in 1017
1 in 742
<1 in 500
1 in 140
1 in 2,401
1 in 2682
1 in 1872
1 in 2237
1 in 1632
1 in 167733
1 in 4667
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 9605
1 in 10727
1 in 7489
1 in 8950
1 in 6530
1 in 670933
1 in 18667
1 in 4368
1 in 4876
1 in 3404
1 in 4068
1 in 2968
1 in 20128
1 in 560
1 in 9605
1 in 10727
1 in 7489
1 in 8950
1 in 6530
1 in 670933
1 in 18667
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ATP6V1E1Cutis laxa, autosomal recessive, type 2CAutosomal recessiveCaucasian/European population1 in 28370ReducedReducedReducedReduced1 in 113480Reduced1 in 4
ATP7AMenkes disease; Occipital horn syndromeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 150,000
N/A
1 in 180000
N/A
N/A
1 in 501,722
N/A
1 in 602069
N/A
N/A
<1 in 1,000,000
N/A
<1 in 1,000,000
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
ATP7BWilson diseaseAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 42
1 in 146
1 in 32
1 in 78
1 in 63
1 in 70
1 in 249
1 in 884
1 in 194
1 in 472
1 in 381
1 in 2333
1 in 41867
1 in 516172
1 in 24796
1 in 147326
1 in 96110
1 in 653333
1 in 248415
<1 in 1,000,000
1 in 150113
1 in 891881
1 in 581834
<1 in 1,000,000
1 in 997
1 in 3535
1 in 775
1 in 1889
1 in 1526
1 in 9333
1 in 168
1 in 584
1 in 128
1 in 312
1 in 252
1 in 280
1 in 997
1 in 3535
1 in 775
1 in 1889
1 in 1526
1 in 9333
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ATP8B1Cholestasis, progressive familial intrahepatic, type 1; Cholestasis, benign recurrent intrahepatic, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 738
1 in 718
1 in 1127
1 in 1679
1 in 1567
1 in 1,803
1 in 1755
1 in 2755
1 in 4104
1 in 3830
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7210
1 in 7020
1 in 11020
1 in 16417
1 in 15322
1 in 2952
1 in 2872
1 in 4508
1 in 6716
1 in 6268
1 in 7210
1 in 7020
1 in 11020
1 in 16417
1 in 15322
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ATRSeckel syndrome, type 1Autosomal recessiveGeneral population<1 in 500<1 in 1300<1 in 1,000,000<1 in 1,000,000<1 in 5199<1 in 2000<1 in 51991 in 4
ATRXMental retardation-hypotonic facies syndrome, X-linked; Alpha-thalassemia/mental retardation syndromeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500,000
N/A
N/A
N/A
N/A
1 in 919,360
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
AUH3-methylglutaconic aciduria, type 1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 938
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 3750
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 3750
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
AURKCMale infertility spermatogenic failure, type 5Autosomal recessiveGeneral populationN/AN/AN/AN/AN/AN/AN/A1 in 4
AVILNephrotic syndrome, type 21Autosomal recessiveGeneral population1 in 2723ReducedReducedReducedReduced1 in 10892Reduced1 in 4
AVPR2Diabetes insipidus, nephrogenic, type 1; Nephrogenic syndrome of inappropriate antidiuresis (NSIAD)X-linkedGeneral population1 in 100011 in 282361 in 112943 - -1 in 4 - -
B2MImmunodeficiency, type 43Autosomal recessiveGeneral population<1 in 500<1 in 700<1 in 1,000,000<1 in 1,000,000<1 in 2801<1 in 2000<1 in 28011 in 4
B3GALNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
B3GALT6Ehlers-Danlos syndrome, spondylodysplastic type, 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
B3GAT3Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsAutosomal recessiveGeneral population<1 in 500<1 in 1125<1 in 1,000,000<1 in 1,000,000<1 in 4500<1 in 2000<1 in 45001 in 4
B3GLCTPeters-plus syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1125<1 in 1,000,000<1 in 1,000,000<1 in 4500<1 in 2000<1 in 45001 in 4
B4GALNT1Spastic paraplegia 26, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
B4GALT1Congenital disorder of glycosylation, type 2DAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 50,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 199804
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 199804
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
B4GALT7Ehlers-Danlos syndrome, spondylodysplastic, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 800<1 in 1,000,000<1 in 1,000,000<1 in 3201<1 in 2000<1 in 32011 in 4
B4GAT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
B9D1Joubert syndrome, type 27Autosomal recessiveCaucasian/European population1 in 5711 in 685<1 in 1,000,000<1 in 1,000,0001 in 27401 in 22841 in 27401 in 4
B9D2Joubert syndrome type 34; Meckel syndrome type 10Autosomal recessiveCaucasian/European population1 in 40051 in 5607<1 in 1,000,000<1 in 1,000,0001 in 224261 in 160201 in 224261 in 4
BAATHypercholanemia, familialAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
BANF1Nestor-Guillermo progeria syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
BBS1Bardet-Biedl syndrome, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 152
1 in 243
1 in 1725
1 in 185
1 in 417
1 in 490
1 in 787
1 in 5586
1 in 599
1 in 1350
1 in 297891
1 in 764825
<1 in 1,000,000
1 in 443295
<1 in 1,000,000
1 in 960213
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1960
1 in 3147
1 in 22343
1 in 2396
1 in 5401
1 in 608
1 in 972
1 in 6900
1 in 740
1 in 1668
1 in 1960
1 in 3147
1 in 22343
1 in 2396
1 in 5401
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BBS10Bardet-Biedl syndrome, type 10Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 237
1 in 470
1 in 428
1 in 425
1 in 1204
1 in 666
1 in 1325
1 in 1206
1 in 1198
1 in 3393
1 in 631454
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2664
1 in 5298
1 in 4825
1 in 4791
1 in 13572
1 in 948
1 in 1880
1 in 1712
1 in 1700
1 in 4816
1 in 2664
1 in 5298
1 in 4825
1 in 4791
1 in 13572
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BBS12Bardet-Biedl syndrome, type 12Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 613
1 in 843
1 in 4450
1 in 438
1 in 644
1 in 798
1 in 1098
1 in 5798
1 in 571
1 in 839
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 999914
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3194
1 in 4394
1 in 23194
1 in 2283
1 in 3357
1 in 2452
1 in 3372
1 in 17800
1 in 1752
1 in 2576
1 in 3194
1 in 4394
1 in 23194
1 in 2283
1 in 3357
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BBS2Bardet-Biedl syndrome, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 333
1 in 741
1 in 148
1 in 855
1 in 1126
1 in 140
1 in 3,255
1 in 7262
1 in 1450
1 in 8379
1 in 11035
1 in 14000
<1 in 1,000,000
<1 in 1,000,000
1 in 858637
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 13018
1 in 29047
1 in 5802
1 in 33516
1 in 44139
1 in 56000
1 in 1332
1 in 2964
1 in 592
1 in 3420
1 in 4504
1 in 560
1 in 13018
1 in 29047
1 in 5802
1 in 33516
1 in 44139
1 in 56000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BBS4Bardet-Biedl syndrome, type 4Autosomal recessiveCaucasian/European population1 in 4181 in 725<1 in 1,000,000<1 in 1,000,0001 in 29011 in 16721 in 29011 in 4
BBS5Bardet-Biedl syndrome, type 5Autosomal recessiveCaucasian/European population1 in 661 in 731 in 191401 in 210251 in 2901 in 2641 in 2901 in 4
BBS7Bardet-Biedl syndrome, type 7Autosomal recessiveCaucasian/European population1 in 5881 in 1091<1 in 1,000,000<1 in 1,000,0001 in 43651 in 23521 in 43651 in 4
BBS9Bardet-Biedl syndrome, type 9Autosomal recessiveCaucasian/European population1 in 6801 in 1853<1 in 1,000,000<1 in 1,000,0001 in 74111 in 27201 in 74111 in 4
BCAP31Deafness, dystonia, and cerebral hypomyelinationX-linkedGeneral population≤1 in 500<1 in 1333333<1 in 1,000,000 - -1 in 4 - -
BCAT2?Hypervalinemia or hyperleucine-isoleucinemiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
BCHEButyrylcholinesterase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 30
1 in 343
1 in 67
1 in 459
1 in 72
<1 in 270
1 in 3430
1 in 670
1 in 4590
1 in 720
1 in 30,200
<1 in 1,000,000
1 in 179560
<1 in 1,000,000
1 in 207360
1 in 292,265
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1,081
1 in 13720
1 in 2680
1 in 18360
1 in 2880
1 in 112
1 in 1372
1 in 268
1 in 1836
1 in 288
1 in 1,081
1 in 13720
1 in 2680
1 in 18360
1 in 2880
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BCKDHAMaple syrup urine disease, type 1AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 555
1 in 478
1 in 869
1 in 1068
1 in 837
1 in 2,317
1 in 1998
1 in 3632
1 in 4464
1 in 3499
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 9267
1 in 7992
1 in 14530
1 in 17857
1 in 13995
1 in 2220
1 in 1912
1 in 3476
1 in 4272
1 in 3348
1 in 9267
1 in 7992
1 in 14530
1 in 17857
1 in 13995
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BCKDHBMaple syrup urine disease, type 1BAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 306
1 in 608
1 in 666
1 in 1665
1 in 412
1 in 97
1 in 990
1 in 1971
1 in 2159
1 in 5398
1 in 1336
1 in 9736
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3959
1 in 7884
1 in 8636
1 in 21591
1 in 5343
1 in 38944
1 in 1224
1 in 2432
1 in 2664
1 in 6660
1 in 1648
1 in 389
1 in 3959
1 in 7884
1 in 8636
1 in 21591
1 in 5343
1 in 38944
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BCKDKBranched-chain ketoacid dehydrogenase kinase deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
BCL10?Immunodeficiency 37Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
BCORMicrophthalmia, syndromic, type 2X-linkedGeneral population≤1 in 500<1 in 904762<1 in 1,000,000 - -1 in 4 - -
BCS1LBCS1L-related disorders, including Leigh syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 385
1 in 457
1 in 822
1 in 616
1 in 552
1 in 1,230
1 in 1462
1 in 2630
1 in 1971
1 in 1766
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4919
1 in 5850
1 in 10522
1 in 7885
1 in 7066
1 in 1540
1 in 1828
1 in 3288
1 in 2464
1 in 2208
1 in 4919
1 in 5850
1 in 10522
1 in 7885
1 in 7066
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BEST1Bestrophinopathy, ARAutosomal recessiveGeneral population≤1 in 500<1 in 694<1 in 1,000,000<1 in 1,000,000<1 in 2776<1 in 2000<1 in 27761 in 4
BFSP1Cataract 33, multiple typesAutosomal recessive*General population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
BGNSpondyloepimetaphyseal dysplasia, X-linked; Meester-Loeys syndromeX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
BHLHA9Syndactyly, mesoaxial synostotic, with phalangeal reductionAutosomal recessiveGeneral population≤1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
BIN1Centronuclear myopathy, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 1100<1 in 1,000,000<1 in 1,000,000<1 in 4400<1 in 2000<1 in 44001 in 4
BLMBloom syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 358
1 in 532
1 in 337
1 in 636
1 in 495
1 in 119
1 in 35,701
1 in 53200
1 in 33700
1 in 63600
1 in 49500
1 in 4012
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 643838
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 142804
1 in 212800
1 in 134800
1 in 254400
1 in 198000
1 in 16048
1 in 1432
1 in 2128
1 in 1348
1 in 2544
1 in 1980
1 in 160
1 in 142804
1 in 212800
1 in 134800
1 in 254400
1 in 198000
1 in 16048
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BLNK?Agammaglobulinemia 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
BLOC1S3Hermansky-Pudlak syndrome 8Autosomal recessiveCaucasian/European population1 in 1818ReducedReducedReducedReduced1 in 7272Reduced1 in 4
BLOC1S6?Hermansky-pudlak syndrome 9Autosomal recessiveCaucasian/European population1 in 365ReducedReducedReducedReduced1 in 1460Reduced1 in 4
BLVRAHyperbiliverdinemiaAutosomal recessive*General population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
BMP1Osteogenesis imperfecta, type 13Autosomal recessiveCaucasian/European population1 in 6431 in 1927<1 in 1,000,000<1 in 1,000,0001 in 77081 in 25721 in 77081 in 4
BMP15Ovarian dysgenesis 2X-linkedGeneral population≤1 in 500<1 in 666667<1 in 1,000,000 - -1 in 4 - -
BMPERDiaphanospondylodysostosisAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
BMPR1BAcromesomelic dysplasia, Demirhan typeAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
BOLA3Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
BPGMErythrocytosis due to bisphosphoglycerate mutase deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
BPNT2Chondrodysplasia with joint dislocations, GPAPP typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
BRAT1Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizuresAutosomal recessiveGeneral population≤1 in 500<1 in 1125<1 in 1,000,000<1 in 1,000,000<1 in 4500<1 in 2000<1 in 45001 in 4
BRF1Cerebellofaciodental syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
BRIP1Fanconi anemia, complementation group JAutosomal recessiveCaucasian/European population1 in 2951 in 6701 in 791043<1 in 1,000,0001 in 26821 in 11801 in 26821 in 4
BRWD3Mental retardation, X-linked, type 93X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 45,000
N/A
N/A
N/A
N/A
1 in 65,000
N/A
N/A
N/A
N/A
1 in 259998
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
BSCL2Congenital generalized lipodystrophy, type 2; Encephalopathy, progressive, with or without lipodystrophyAutosomal recessiveGeneral population≤1 in 500<1 in 1131<1 in 1,000,000<1 in 1,000,000<1 in 4526<1 in 2000<1 in 45261 in 4
BSNDBartter syndrome, type 4AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 916
1 in 186
1 in 687
1 in 733
1 in 2856
1 in 2,014
1 in 409
1 in 1511
1 in 1613
1 in 6283
<1 in 1,000,000
1 in 304445
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 669779
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 8056
1 in 1637
1 in 6046
1 in 6450
1 in 25133
1 in 3664
1 in 744
1 in 2748
1 in 2932
1 in 11424
1 in 8056
1 in 1637
1 in 6046
1 in 6450
1 in 25133
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BTDBiotinidase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 120
1 in 52
1 in 324
1 in 7
1 in 136
1 in 477
1 in 208
1 in 1296
1 in 28
1 in 544
1 in 228960
1 in 43264
<1 in 1,000,000
1 in 784
1 in 295936
1 in 910116
1 in 173056
<1 in 1,000,000
1 in 3136
<1 in 1,000,000
1 in 1908
1 in 832
1 in 5184
1 in 112
1 in 2176
1 in 480
1 in 208
1 in 1296
1 in 28
1 in 544
1 in 1908
1 in 832
1 in 5184
1 in 112
1 in 2176
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
BTKAgammaglobulinemia X-linked, type 1X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 126,556
N/A
N/A
N/A
N/A
1 in 275,310
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
BUB1BMosaic variegated aneuploidy syndrome 1Autosomal recessiveGeneral population≤1 in 500<1 in 885<1 in 1,000,000<1 in 1,000,000<1 in 3539<1 in 2000<1 in 35391 in 4
C12orf57Temtamy syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
C12orf65Combined oxidative phosphorylation deficiency 7; Spastic paraplegia, type 55, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
C19orf12Neurodegeneration with brain iron accumulation, type 4Autosomal recessive*Caucasian/European population1 in 2011 in 3011 in 2420041 in 3624041 in 12041 in 8041 in 12041 in 4
C1QAC1q deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
C1QBC1q deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
C1QBPCombined oxidative phosphorylation deficiency 33Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
C1QCC1q deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
C1SC1s deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
C2C2 deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
C2CD3Orofaciodigital syndrome, type 14Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
C3Complement component 3 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 3997<1 in 1,000,000<1 in 1,000,000<1 in 15988<1 in 2000<1 in 159881 in 4
C4AC4a deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
C5Complement component 5 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
C6Complement component 6 deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
C7Complement component 7 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
C8AC8 deficiency, type IAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
C8BComplement component 8 deficiency, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
C8orf37Bardet-Biedl syndrome, type 21; Cone-rod dystrophy 16 and Retintis pigmentosa 64Autosomal recessiveGeneral population≤1 in 500<1 in 857<1 in 1,000,000<1 in 1,000,000<1 in 3429<1 in 2000<1 in 34291 in 4
CA12Hyperchlorhidrosis, isolatedAutosomal recessiveGeneral population≤1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
CA2Osteopetrosis with renal tubular acidosis (osteopetrosis, autosomal recessive, type 3)Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 1,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 4000
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 4000
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CA5AHyperammonemia due to carbonic anhydrase VA deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CA8Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CABP2Deafness, autosomal recessive 93Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CABP4Congenital stationary night blindness, type 2BAutosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
CACNA1DSinoatrial node dysfunction and deafnessAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CACNA1FCone-rod dystrophy, X-linked, type 3; Night blindness, congenital stationary, type 2A; Aland Island eye diseaseX-linkedGeneral population≤1 in 500<1 in 820513<1 in 1,000,000 - -1 in 4 - -
CACNA2D4Retinal cone dystrophy 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CADEpileptic encephalopathy, early infantile, 50Autosomal recessiveCaucasian/European population1 in 207ReducedReducedReducedReduced1 in 828Reduced1 in 4
CALCRL?Lymphatic malformation 8Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CANT1Desbuquois dysplasia, type 1; Epiphyseal dysplasia, multiple, type 7 Autosomal recessiveGeneral Population1 in 5001 in 899<1 in 1,000,000<1 in 1,000,0001 in 35971 in 20001 in 35971 in 4
CAPN1Spastic paraplegia 76, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CAPN3Limb-girdle muscular dystrophy, type 1 (LGMD R1)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 103
1 in 111
1 in 104
1 in 223
1 in 144
1 in 7,498
1 in 8158
1 in 7644
1 in 16391
1 in 10584
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 29992
1 in 32634
1 in 30576
1 in 65562
1 in 42336
1 in 412
1 in 444
1 in 416
1 in 892
1 in 576
1 in 29992
1 in 32634
1 in 30576
1 in 65562
1 in 42336
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CARD11Immunodeficiency 11AAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CARD9Candidiasis, familial, type 2, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
CARS2Combined oxidative phosphorylation deficiency 27Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CASKMental retardation, X-linked, syndromic, Najm typeX-linkedGeneral population1 in 500001 in 988091 in 395234 - -1 in 4 - -
CASP14Ichthyosis, congenital, autosomal recessive 12Autosomal recessiveCaucasian/European population1 in 1323ReducedReducedReducedReduced1 in 5292Reduced1 in 4
CASQ2Ventricular tachycardia, catecholaminergic polymorphic, type 2Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 51
N/A
N/A
N/A
N/A
1 in 98
N/A
N/A
N/A
N/A
1 in 19924
N/A
N/A
N/A
N/A
1 in 38155
N/A
N/A
N/A
N/A
1 in 391
N/A
N/A
N/A
N/A
1 in 204
N/A
N/A
N/A
N/A
1 in 391
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CASRHyperparathyroidism, neonatalAutosomal recessive*General population≤1 in 500<1 in 1042<1 in 1,000,000<1 in 1,000,000<1 in 4167<1 in 2000<1 in 41671 in 4
CASTPeeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle padsAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
CATAcatalasemiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CATSPER1Male infertility spermatogenic failure, type 7Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CAVIN1Lipodystrophy, congenital generalized, type 4Autosomal recessiveCaucasian/European population1 in 60131 in 54109<1 in 1,000,000<1 in 1,000,0001 in 2164361 in 240521 in 2164361 in 4
CBLIFIntrinsic factor deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
CBSHomocystinuria due to cystathionine beta-synthaseAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 128
1 in 188
1 in 589
1 in 523
1 in 202
1 in 2,541
1 in 3760
1 in 11780
1 in 10460
1 in 4040
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 10162
1 in 15040
1 in 47120
1 in 41840
1 in 16160
1 in 512
1 in 752
1 in 2356
1 in 2092
1 in 808
1 in 10162
1 in 15040
1 in 47120
1 in 41840
1 in 16160
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CC2D1AMental retardation, autosomal recessive, type 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CC2D2AJoubert syndrome type 9Autosomal recessiveGeneral population≤1 in 500<1 in 1100<1 in 1,000,000<1 in 1,000,000<1 in 4400<1 in 2000<1 in 44001 in 4
CCBE1Hennekam lymphangiectasia-lymphedema syndrome, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
CCDC103Ciliary dyskinesia, primary, type 17Autosomal recessiveGeneral Population1 in 3161 in 6311 in 797584<1 in 1,000,0001 in 25241 in 12641 in 25241 in 4
CCDC115Congenital disorder of glycosylation, type IIoAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CCDC174Hypotonia, infantile, with psychomotor retardationAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CCDC22Ritscher-Schinzel syndrome 2X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
CCDC39Ciliary dyskinesia, primary, type 14Autosomal recessiveGeneral Population1 in 2111 in 3541 in 2983541 in 4998491 in 14141 in 8441 in 14141 in 4
CCDC40Ciliary dyskinesia, primary, type 15Autosomal recessiveGeneral population≤1 in 500<1 in 1333<1 in 1,000,000<1 in 1,000,000<1 in 5332<1 in 2000<1 in 53321 in 4
CCDC65Ciliary dyskinesia, primary, 27Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CCDC83M syndrome 3Autosomal recessiveCaucasian/European population1 in 777ReducedReducedReducedReduced1 in 3108Reduced1 in 4
CCDC88CHydrocephalus, congenital, type 1 Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CCN6Arthropathy, progressive pseudorheumatoid, of childhoodAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 674
1 in 469
1 in 706
1 in 303
1 in 643
1 in 1,796
1 in 1251
1 in 1883
1 in 808
1 in 1715
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 979296
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7183
1 in 5003
1 in 7531
1 in 3232
1 in 6859
1 in 2696
1 in 1876
1 in 2824
1 in 1212
1 in 2572
1 in 7183
1 in 5003
1 in 7531
1 in 3232
1 in 6859
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CCNOCiliary dyskinesia, primary, 29Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CCNQSTAR syndromeX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
CCT5Neuropathy, hereditary sensory, with spastic paraplegiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CD19Immunodeficiency, common variable, type 3Autosomal recessiveGeneral population≤1 in 500<1 in 1167<1 in 1,000,000<1 in 1,000,000<1 in 4666<1 in 2000<1 in 46661 in 4
CD247?Immunodeficiency 25Autosomal recessiveCaucasian/European population1 in 1295ReducedReducedReducedReduced1 in 5180Reduced1 in 4
CD27Lymphoproliferative syndrome 2Autosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
CD2APGlomerulosclerosis, focal segmental, type 3, susceptibility toAutosomal recessive*General population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CD320Methylmalonic aciduria, transient, due to transcobalamin receptor defectAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CD36Platelet glycoprotein 4 deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CD3DImmunodeficiency, type 19Autosomal recessiveCaucasian/European population1 in 9441 in 2830<1 in 1,000,000<1 in 1,000,0001 in 113201 in 37761 in 113201 in 4
CD3EImmunodeficiency, type 18Autosomal recessiveCaucasian/European population1 in 47271 in 8272<1 in 1,000,000<1 in 1,000,0001 in 330861 in 189081 in 330861 in 4
CD3GImmunodeficiency, type 17, CD3 gamma deficientAutosomal recessiveCaucasian/European population1 in 31711 in 5284<1 in 1,000,000<1 in 1,000,0001 in 211371 in 126841 in 211371 in 4
CD40Immunodeficiency with hyper-IgM, type 3Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CD40LGHyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 250,000
N/A
N/A
N/A
N/A
1 in 532,258
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
CD55Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE)Autosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
CD59CD59 DeficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
CD79AAgammaglobulinemia 3Autosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
CD79BAgammaglobulinemia 6Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
CD81Immunodeficiency, common variable, type 6Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
CD8ACD8 deficiency, familialAutosomal recessiveCaucasian/European population1 in 3179ReducedReducedReducedReduced1 in 12716Reduced1 in 4
CDAN1Dyserythropoietic anemia, congenital, type 1AAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
CDC14ADeafness, autosomal recessive 105Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CDC45Meier-Gorlin syndrome 7Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CDCA7Immunodeficiency-centromeric instability-facial anomalies syndrome 3Autosomal recessiveCaucasian/European population1 in 3526ReducedReducedReducedReduced1 in 14104Reduced1 in 4
CDH11Elsahy-Waters syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CDH23Deafness, autosomal recessive, type 12; Usher syndrome, type 1DAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 216
1 in 118
1 in 116
1 in 166
1 in 222
1 in 499
1 in 273
1 in 268
1 in 384
1 in 514
1 in 430825
1 in 128914
1 in 124581
1 in 255125
1 in 456292
1 in 994569
1 in 298386
1 in 288357
1 in 590515
<1 in 1,000,000
1 in 1995
1 in 1092
1 in 1074
1 in 1537
1 in 2055
1 in 864
1 in 472
1 in 464
1 in 664
1 in 888
1 in 1995
1 in 1092
1 in 1074
1 in 1537
1 in 2055
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CDH3Ectodermal dysplasia, ectrodactyly, and macular dystrophyAutosomal recessiveCaucasian/European population1 in 2441 in 4331 in 4226081 in 7499561 in 17321 in 9761 in 17321 in 4
CDHR1Cone-rod dystrophy, type 15Autosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
CDIN1Dyserythropoietic anemia, congenital, type IbAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CDK10Al Kaissi syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CDK5RAP2Primary microcephaly type 3, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 2199<1 in 1,000,000<1 in 1,000,000<1 in 8795<1 in 2000<1 in 87951 in 4
CDKL5Developmental and epileptic encephalopathy, type 2X-linkedGeneral population≤1 in 500<1 in 1057047<1 in 1,000,000 - -1 in 4 - -
CDSNPeeling skin syndrome 1Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CDT1Meier-Gorlin syndrome, type 4Autosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
CEBPESpecific granule deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CENPFStromme syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CENPJPrimary microcephaly type 6, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 4746<1 in 1,000,000<1 in 1,000,000<1 in 18985<1 in 2000<1 in 189851 in 4
CEP104Joubert syndrome 25Autosomal recessiveCaucasian/European population1 in 108ReducedReducedReducedReduced1 in 432Reduced1 in 4
CEP120Short-rib thoracic dysplasia 13 with or without polydactylyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CEP135Microcephaly 8, primary, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1167<1 in 1,000,000<1 in 1,000,000<1 in 4666<1 in 2000<1 in 46661 in 4
CEP152Primary microcephaly type 9, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1091<1 in 1,000,000<1 in 1,000,000<1 in 4363<1 in 2000<1 in 43631 in 4
CEP164Nephronophthisis 15Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CEP19Morbid obesity and spermatogenic failureAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CEP290Meckel syndrome, type 4; Joubert syndrome, type 5; Leber congenital amaurosis, type 10Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 97
1 in 131
1 in 32
1 in 222
1 in 199
1 in 248
1 in 337
1 in 82
1 in 571
1 in 512
1 in 96169
1 in 176513
1 in 10533
1 in 506921
1 in 407325
1 in 245733
1 in 453891
1 in 27084
<1 in 1,000,000
<1 in 1,000,000
1 in 991
1 in 1347
1 in 329
1 in 2283
1 in 2047
1 in 388
1 in 524
1 in 128
1 in 888
1 in 796
1 in 991
1 in 1347
1 in 329
1 in 2283
1 in 2047
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CEP41Joubert syndrome, type 15Autosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
CEP55Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephalyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CEP57Mosaic variegated aneuploidy syndrome 2Autosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
CEP78Cone-rod dystrophy and hearing lossAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CEP83Nephronophthisis 18Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CERKLRetinitis pigmentosa, type 26Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 370
1 in 963
1 in 547
1 in 416
1 in 602
<1 in 500
1 in 24
1 in 515
1 in 1341
1 in 762
1 in 579
1 in 839
1 in 163600
1 in 800
1 in 762147
<1 in 1,000,000
<1 in 1,000,000
1 in 964169
<1 in 1,000,000
<1 in 1,000,000
1 in 76800
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2060
1 in 5365
1 in 3048
1 in 2318
1 in 3354
1 in 654400
1 in 3200
1 in 1480
1 in 3852
1 in 2188
1 in 1664
1 in 2408
1 in 19632
1 in 96
1 in 2060
1 in 5365
1 in 3048
1 in 2318
1 in 3354
1 in 654400
1 in 3200
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CERS3Ichthyosis, congenital, autosomal recessive 9Autosomal recessiveCaucasian/European population1 in 6225ReducedReducedReducedReduced1 in 24900Reduced1 in 4
CFAP298Ciliary dyskinesia, primary, 26Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CFAP410Axial spondylometaphyseal dysplasia; Retinal dystrophy with macular staphylomaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CFAP43Spermatogenic failure 19Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CFAP53Heterotaxy, visceral, 6, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CFDComplement factor D deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CFHComplement factor H deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 700<1 in 1,000,000<1 in 1,000,000<1 in 2801<1 in 2000<1 in 28011 in 4
CFIComplement factor I deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 612<1 in 1,000,000<1 in 1,000,000<1 in 2446<1 in 2000<1 in 24461 in 4
CFL2Nemaline myopathy, type 7, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
CFPProperdin deficiency, X-linkedX-linkedGeneral population≤1 in 500<1 in 750000<1 in 1,000,000 - -1 in 4 - -
CFTRCystic fibrosisAutosomal recessiveCaucasian/European
African/African American
Asian
Latino
Ashkenazi Jewish
1 in 26
1 in 61
1 in 94
1 in 58
1 in 24
1 in 246
1 in 610
1 in 940
1 in 580
1 in 169
1 in 25112
1 in 148840
1 in 353440
1 in 134560
1 in 16255
1 in 242265
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 114684
1 in 984
1 in 2440
1 in 3760
1 in 2320
1 in 677
1 in 102
1 in 244
1 in 376
1 in 232
1 in 96
1 in 984
1 in 2440
1 in 3760
1 in 2320
1 in 677
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CHATMyasthenic syndrome, congenital, type 6, presynapticAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 121
1 in 209
1 in 318
1 in 321
1 in 30
1 in 134
1 in 231
1 in 351
1 in 355
1 in 33
1 in 64678
1 in 193116
1 in 447075
1 in 455550
1 in 3979
1 in 71430
1 in 213444
1 in 494135
1 in 503502
1 in 4398
1 in 535
1 in 924
1 in 1406
1 in 1419
1 in 133
1 in 484
1 in 836
1 in 1272
1 in 1284
1 in 120
1 in 535
1 in 924
1 in 1406
1 in 1419
1 in 133
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CHKBMuscular dystrophy, congenital, megaconial typeAutosomal recessiveGeneral population≤1 in 500<1 in 1300<1 in 1,000,000<1 in 1,000,000<1 in 5199<1 in 2000<1 in 51991 in 4
CHMChoroideremiaX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 33,334
1 in 25000
N/A
N/A
1 in 25000
1 in 64,000
1 in 48000
N/A
N/A
1 in 48000
1 in 256001
1 in 192000
N/A
N/A
1 in 192000
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
CHMP1APontocerebellar hypoplasia, type 8Autosomal recessiveCaucasian/European population1 in 717ReducedReducedReducedReduced1 in 2868Reduced1 in 4
CHRDL1Megalocornea 1, X-linkedX-linkedGeneral population≤1 in 500<1 in 3999997<1 in 1,000,000 - -1 in 4 - -
CHRNA1Multiple pterygium syndrome, lethal typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CHRNB1?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CHRNDMyasthenic syndrome, congenital, type 3B, fast-channel; Multiple pterygium syndrome, lethal typeAutosomal recessiveGeneral population<1 in 500<1 in 1187<1 in 1,000,000<1 in 1,000,000<1 in 4749<1 in 2000<1 in 47491 in 4
CHRNEMyasthenic syndrome, congenital, type 4B, fast-channel; Myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 244
1 in 300
1 in 299
1 in 312
1 in 366
1 in 491
1 in 605
1 in 603
1 in 629
1 in 738
1 in 479465
1 in 726304
1 in 721470
1 in 785570
<1 in 1,000,000
1 in 965326
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1965
1 in 2421
1 in 2413
1 in 2518
1 in 2954
1 in 976
1 in 1200
1 in 1196
1 in 1248
1 in 1464
1 in 1965
1 in 2421
1 in 2413
1 in 2518
1 in 2954
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CHRNGMultiple pterygium syndrome (MPS), Escobar type; MPS, lethal typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 400
1 in 546
1 in 529
1 in 384
1 in 371
1 in 1,597
1 in 2184
1 in 2116
1 in 1536
1 in 1484
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6388
1 in 8736
1 in 8464
1 in 6144
1 in 5936
1 in 1600
1 in 2184
1 in 2116
1 in 1536
1 in 1484
1 in 6388
1 in 8736
1 in 8464
1 in 6144
1 in 5936
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CHST14Ehlers-Danlos syndrome, musculocontractural, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsAutosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
CHST6Macular corneal dystrophyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 80
N/A
N/A
N/A
N/A
1 in 394
N/A
N/A
N/A
N/A
1 in 125725
N/A
N/A
N/A
N/A
1 in 622315
N/A
N/A
N/A
N/A
1 in 1578
N/A
N/A
N/A
N/A
1 in 319
N/A
N/A
N/A
N/A
1 in 1578
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CHSY1Temtamy preaxial brachydactyly syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
CHUKCocoon syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
CIB2Deafness, autosomal recessive, type 48; Usher syndrome, type 1JAutosomal recessiveCaucasian/European population1 in 10591 in 2470<1 in 1,000,000<1 in 1,000,0001 in 98791 in 42361 in 98791 in 4
CIITABare lymphocyte syndrome, type 2, complementation group AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 924
1 in 2879
1 in 1002
1 in 2185
1 in 1322
1 in 1,501
1 in 4678
1 in 1628
1 in 3551
1 in 2148
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6004
1 in 18714
1 in 6513
1 in 14203
1 in 8593
1 in 3696
1 in 11516
1 in 4008
1 in 8740
1 in 5288
1 in 6004
1 in 18714
1 in 6513
1 in 14203
1 in 8593
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CILK1Endocrine-cerebroosteodysplasiaAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CISD2Wolfram syndrome 2Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CITMicrocephaly 17, primary, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CKAP2LFilippi syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CLCF1Cold-induced sweating syndrome 2Autosomal recessiveCaucasian/European population1 in 187161 in 37431<1 in 1,000,000<1 in 1,000,0001 in 1497241 in 748641 in 1497241 in 4
CLCN1Myotonia congenita, recessiveAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 159
N/A
N/A
N/A
N/A
1 in 319
N/A
N/A
N/A
N/A
1 in 202214
N/A
N/A
N/A
N/A
1 in 406323
N/A
N/A
N/A
N/A
1 in 1275
N/A
N/A
N/A
N/A
1 in 634
N/A
N/A
N/A
N/A
1 in 1275
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CLCN2Leukoencephalopathy with ataxiaAutosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
CLCN4Mental retardation, X-linked 49X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
CLCN5Dent disease; Hypophosphatemic ricketsX-linkedGeneral population≤1 in 500<1 in 1000000<1 in 1,000,000 - -1 in 4 - -
CLCN7Osteopetrosis, autosomal recessive type 4Autosomal recessiveGeneral population≤1 in 500<1 in 532<1 in 1,000,000<1 in 1,000,000<1 in 2127<1 in 2000<1 in 21271 in 4
CLCNKABartter syndrome, type 4B, digenicDigenic inheritance (CLCNKB gene)Caucasian/European population1 in 1701 in 5081 in 345440<1 in 1,000,0001 in 20321 in 6801 in 20321 in 4
CLCNKBBartter syndrome, type 3; Bartter syndrome, type 4B, digenicAutosomal recessive; Digenic inheritance (CLCNKA gene)Caucasian/European population1 in 2601 in 4821 in 5012801 in 9292961 in 19281 in 10401 in 19281 in 4
CLDN1Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitisAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
CLDN10HELIX syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CLDN14Deafness type 29, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CLDN16Hypomagnesemia, type 3, renalAutosomal recessiveGeneral population≤1 in 500<1 in 647<1 in 1,000,000<1 in 1,000,000<1 in 2590<1 in 2000<1 in 25901 in 4
CLDN19Rena hypomagnesemia type 5, with ocular involvementAutosomal recessiveGeneral population≤1 in 500<1 in 1167<1 in 1,000,000<1 in 1,000,000<1 in 4666<1 in 2000<1 in 46661 in 4
CLEC7ACandidiasis, familial, 4, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CLMPCongenital short bowel syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 2499<1 in 1,000,000<1 in 1,000,000<1 in 9994<1 in 2000<1 in 99941 in 4
CLN3Ceroid lipofuscinosis, neuronal, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 242
1 in 1697
1 in 589
1 in 2552
1 in 1538
1 in 2,090
1 in 14707
1 in 5105
1 in 22117
1 in 13329
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 8359
1 in 58829
1 in 20419
1 in 88469
1 in 53317
1 in 968
1 in 6788
1 in 2356
1 in 10208
1 in 6152
1 in 8359
1 in 58829
1 in 20419
1 in 88469
1 in 53317
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CLN5Ceroid lipofuscinosis, neuronal, type 5Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 762
1 in 1473
1 in 748
1 in 4827
1 in 794
1 in 3,299
1 in 6383
1 in 3241
1 in 20917
1 in 3441
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 13195
1 in 25532
1 in 12965
1 in 83668
1 in 13763
1 in 3048
1 in 5892
1 in 2992
1 in 19308
1 in 3176
1 in 13195
1 in 25532
1 in 12965
1 in 83668
1 in 13763
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CLN6Ceroid lipofuscinosis, neuronal, type 6 Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 977
1 in 1528
1 in 909
1 in 733
1 in 698
1 in 2,840
1 in 4445
1 in 2644
1 in 2132
1 in 2031
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 11361
1 in 17780
1 in 10577
1 in 8529
1 in 8122
1 in 3908
1 in 6112
1 in 3636
1 in 2932
1 in 2792
1 in 11361
1 in 17780
1 in 10577
1 in 8529
1 in 8122
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CLN8Ceroid lipofuscinosis, neuronal, type 8Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,250
1 in 1107
1 in 1725
1 in 1924
1 in 3358
1 in 2,276
1 in 2016
1 in 3142
1 in 3504
1 in 6116
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 9104
1 in 8065
1 in 12568
1 in 14018
1 in 24465
1 in 5000
1 in 4428
1 in 6900
1 in 7696
1 in 13432
1 in 9104
1 in 8065
1 in 12568
1 in 14018
1 in 24465
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CLP1Pontocerebellar hypoplasia, type 10Autosomal recessiveCaucasian/European population1 in 2855ReducedReducedReducedReduced1 in 11420Reduced1 in 4
CLPB3-methylglutaconic aciduria, type 7, with cataracts, neurologic involvement and neutropeniaautosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CLPPPerrault syndrome 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CLRN1Usher syndrome, type 3AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 420
1 in 632
1 in 1263
N/A
1 in 1889
1 in 132
1 in 577
1 in 869
1 in 1737
N/A
1 in 2597
1 in 3771
1 in 969570
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 2309
1 in 3476
1 in 6947
N/A
1 in 10390
1 in 15084
1 in 1680
1 in 2528
1 in 5052
N/A
1 in 7556
1 in 453
1 in 2309
1 in 3476
1 in 6947
N/A
1 in 10390
1 in 15084
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CNGA1Retinitis pigmentosa type 49Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 625
N/A
N/A
N/A
N/A
1 in 1,171
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 4684
N/A
N/A
N/A
N/A
1 in 2500
N/A
N/A
N/A
N/A
1 in 4684
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CNGA3Achromatopsia, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 790<1 in 1,000,000<1 in 1,000,000<1 in 3159<1 in 2000<1 in 31591 in 4
CNGB1Retinitis pigmentosa type 45Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 867
N/A
N/A
N/A
N/A
1 in 1,614
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 6454
N/A
N/A
N/A
N/A
1 in 3468
N/A
N/A
N/A
N/A
1 in 6454
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CNGB3Achromatopsia, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 87
1 in 50
1 in 208
1 in 18
1 in 90
1 in 1,363
1 in 792
1 in 3293
1 in 285
1 in 1425
1 in 474208
1 in 158333
<1 in 1,000,000
1 in 20520
1 in 513000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 324900
<1 in 1,000,000
1 in 5451
1 in 3167
1 in 13173
1 in 1140
1 in 5700
1 in 348
1 in 200
1 in 832
1 in 72
1 in 360
1 in 5451
1 in 3167
1 in 13173
1 in 1140
1 in 5700
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CNKSR2Mental retardation, X-linked, syndromic, Houge typeX-linkedGeneral population≤1 in 500<1 in 1200000<1 in 1,000,000 - -1 in 4 - -
CNNM2Hypomagnesemia, seizures, and mental retardationAutosomal recessive*General population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CNNM4Jalili syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1143<1 in 1,000,000<1 in 1,000,000<1 in 4571<1 in 2000<1 in 45711 in 4
CNPY3Epileptic encephalopathy, early infantile, type 60Autosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
CNTNAP1Lethal congenital contracture syndrome 7Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CNTNAP2Pitt-Hopkins like syndrome 1Autosomal recessiveCaucasian/European population1 in 3141 in 5421 in 680295<1 in 1,000,0001 in 21671 in 12561 in 21671 in 4
COA6Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COA8Mitochondrial complex IV deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COASYNeurodegeneration with brain iron accumulation 6Autosomal recessiveCaucasian/European population1 in 383ReducedReducedReducedReduced1 in 1532Reduced1 in 4
COG1Congenital disorder of glycosylation, type IIgAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COG4Congenital disorder of glycosylation, type 2JAutosomal recessiveGeneral population<1 in 500<1 in 682<1 in 1,000,000<1 in 1,000,000<1 in 2729<1 in 2000<1 in 27291 in 4
COG5Congenital disorder of glycosylation, type 2IAutosomal recessiveGeneral population<1 in 500<1 in 563<1 in 1,000,000<1 in 1,000,000<1 in 2252<1 in 2000<1 in 22521 in 4
COG6Congenital disorder of glycosylation, type 2L; Shaheen syndromeAutosomal recessiveGeneral population<1 in 500<1 in 637<1 in 1,000,000<1 in 1,000,000<1 in 2547<1 in 2000<1 in 25471 in 4
COG7Congenital disorder of glycosylation, type 2EAutosomal recessiveGeneral population<1 in 500<1 in 800<1 in 1,000,000<1 in 1,000,000<1 in 3201<1 in 2000<1 in 32011 in 4
COG8Congenital disorder of glycosylation, type 2HAutosomal recessiveGeneral population<1 in 500<1 in 800<1 in 1,000,000<1 in 1,000,000<1 in 3201<1 in 2000<1 in 32011 in 4
COL11A1Fibrochondrogenesis type 1Autosomal recessiveGeneral population≤1 in 500<1 in 525<1 in 1,000,000<1 in 1,000,000<1 in 2102<1 in 2000<1 in 21021 in 4
COL11A2Otospondylomegaepiphyseal dysplasia, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COL13A1Myasthenic syndrome, congenital, 19Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COL17A1Epidermolysis bullosa, junctional, non-Herlitz typeAutosomal recessiveGeneral population≤1 in 500<1 in 2998<1 in 1,000,000<1 in 1,000,000<1 in 11992<1 in 2000<1 in 119921 in 4
COL18A1Knobloch syndrome, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 850<1 in 1,000,000<1 in 1,000,000<1 in 3401<1 in 2000<1 in 34011 in 4
COL1A2Ehlers-Danlos syndrome, cardiac valvular typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COL25A1Fibrosis of extraocular muscles, congenital, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
COL27A1Steel syndromeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
1 in 40
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
1 in 160
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
COL4A3Alport syndrome, autosomal recessive, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 218
1 in 329
1 in 241
1 in 361
1 in 195
1 in 190
1 in 352
1 in 532
1 in 390
1 in 584
1 in 315
1 in 6333
1 in 306801
1 in 699996
1 in 375611
1 in 842788
1 in 245908
<1 in 1,000,000
1 in 495153
<1 in 1,000,000
1 in 607270
<1 in 1,000,000
1 in 397573
<1 in 1,000,000
1 in 1407
1 in 2128
1 in 1559
1 in 2335
1 in 1261
1 in 25331
1 in 872
1 in 1316
1 in 964
1 in 1444
1 in 780
1 in 760
1 in 1407
1 in 2128
1 in 1559
1 in 2335
1 in 1261
1 in 25331
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
COL4A4Alport syndrome, autosomal recessive, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 349
1 in 369
1 in 158
1 in 415
1 in 359
1 in 565
1 in 598
1 in 256
1 in 673
1 in 582
1 in 788969
1 in 882955
1 in 161883
<1 in 1,000,000
1 in 835747
<1 in 1,000,000
<1 in 1,000,000
1 in 262438
<1 in 1,000,000
<1 in 1,000,000
1 in 2261
1 in 2393
1 in 1025
1 in 2691
1 in 2328
1 in 1396
1 in 1476
1 in 632
1 in 1660
1 in 1436
1 in 2261
1 in 2393
1 in 1025
1 in 2691
1 in 2328
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
COL4A5Alport syndrome, X-linkedX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 34,622
N/A
N/A
N/A
N/A
1 in 72,761
N/A
N/A
N/A
N/A
1 in 291042
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
COL4A6?Deafness, X-linked 6X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
COL6A1Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22])Autosomal recessive*General population≤1 in 500<1 in 826<1 in 1,000,000<1 in 1,000,000<1 in 3304<1 in 2000<1 in 33041 in 4
COL6A2Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22])Autosomal recessive*General population≤1 in 500<1 in 1106<1 in 1,000,000<1 in 1,000,000<1 in 4423<1 in 2000<1 in 44231 in 4
COL6A3Ullrich congenital muscular dystrophy, type 1 (Limb-girdle muscular dystrophy, type 22 [LGMD R22])Autosomal recessive*General population≤1 in 500<1 in 1264<1 in 1,000,000<1 in 1,000,000<1 in 5058<1 in 2000<1 in 50581 in 4
COL7A1Dystrophic epidermolysis bullosa (DEB), Hallopeau-Siemens (HS) type and non-HS type; DEB pruriginosa; DEB pretibialAutosomal recessive; Autosomal recessive*; Autosomal recessive*Caucasian/European
African/African American
East Asian
South Asian
Latino
1 in 100
1 in 199
1 in 262
1 in 95
1 in 190
1 in 243
1 in 487
1 in 641
1 in 232
1 in 465
1 in 97259
1 in 387448
1 in 671598
1 in 88299
1 in 353195
1 in 236485
1 in 947676
<1 in 1,000,000
1 in 215974
1 in 863895
1 in 973
1 in 1947
1 in 2563
1 in 929
1 in 1859
1 in 400
1 in 796
1 in 1048
1 in 380
1 in 760
1 in 973
1 in 1947
1 in 2563
1 in 929
1 in 1859
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
COL9A1Stickler syndrome, type 4Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
COL9A2?Stickler syndrome, type VAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COLEC103MC syndrome 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COLEC113MC syndrome 2Autosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
COLQMyasthenic syndrome, congenital, type 5Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 805
1 in 674
1 in 653
1 in 992
1 in 1494
1 in 1,420
1 in 1189
1 in 1152
1 in 1751
1 in 2636
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5679
1 in 4758
1 in 4609
1 in 7002
1 in 10546
1 in 3220
1 in 2696
1 in 2612
1 in 3968
1 in 5976
1 in 5679
1 in 4758
1 in 4609
1 in 7002
1 in 10546
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
COQ2Primary coenzyme Q10 deficiency, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
COQ4Coenzyme Q10 deficiency, primary, type 7Autosomal recessiveGeneral population≤1 in 500<1 in 682<1 in 1,000,000<1 in 1,000,000<1 in 2729<1 in 2000<1 in 27291 in 4
COQ6Coenzyme Q10 deficiency, primary, type 6Autosomal recessiveGeneral population≤1 in 500<1 in 1300<1 in 1,000,000<1 in 1,000,000<1 in 5199<1 in 2000<1 in 51991 in 4
COQ8APrimary coenzyme Q10 deficiency, type 4Autosomal recessiveGeneral population≤1 in 500<1 in 743<1 in 1,000,000<1 in 1,000,000<1 in 2972<1 in 2000<1 in 29721 in 4
COQ8BNephrotic syndrome, type 9Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COQ9Coenzyme Q10 deficiency, primary, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CORO1AImmunodeficiency, type 8Autosomal recessiveCaucasian/European population1 in 40381 in 16149<1 in 1,000,000<1 in 1,000,0001 in 645961 in 161521 in 645961 in 4
COX10Mitochondrial complex IV deficiency; Leigh syndrome due to mitochondrial COX4 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 800<1 in 1,000,000<1 in 1,000,000<1 in 3201<1 in 2000<1 in 32011 in 4
COX15Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 2; Leigh syndrome due to cytochrome c oxidase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 480
1 in 719
1 in 1839
1 in 159
1 in 887
1 in 640
1 in 959
1 in 2452
1 in 212
1 in 1183
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 134832
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 179776
<1 in 1,000,000
1 in 2559
1 in 3835
1 in 9808
1 in 848
1 in 4731
1 in 1920
1 in 2876
1 in 7356
1 in 636
1 in 3548
1 in 2559
1 in 3835
1 in 9808
1 in 848
1 in 4731
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
COX20Mitochondrial complex IV deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COX4I2Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosisAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COX6A1Charcot-Marie-Tooth disease, recessive intermediate DAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COX6B1Mitochondrial complex IV deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
COX7BLinear skin defects with multiple congenital anomalies, type 2X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
CPAceruloplasminemiaAutosomal recessiveCaucasian/European population1 in 4971 in 1737<1 in 1,000,000<1 in 1,000,0001 in 69481 in 19881 in 69481 in 4
CPA6Febrile seizures, familial, type 11Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
CPAMD8Anterior segment dysgenesis 8Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CPLANE1Joubert syndrome 17Autosomal recessiveCaucasian/European population1 in 50ReducedReducedReducedReduced1 in 200Reduced1 in 4
CPLX1Epileptic encephalopathy, early infantile, 63Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CPN1Carboxypeptidase N deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CPS1Carbamoylphosphate synthetase 1 deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 343
1 in 401
1 in 221
1 in 1026
1 in 740
1 in 817
1 in 957
1 in 528
1 in 2449
1 in 1766
<1 in 1,000,000
<1 in 1,000,000
1 in 466353
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3270
1 in 3829
1 in 2110
1 in 9797
1 in 7066
1 in 1372
1 in 1604
1 in 884
1 in 4104
1 in 2960
1 in 3270
1 in 3829
1 in 2110
1 in 9797
1 in 7066
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CPT1ACarnitine palmitoyltransferase type 1A deficiency, hepaticAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,518
1 in 2550
1 in 1435
1 in 1924
1 in 2821
1 in 6,638
1 in 11156
1 in 6278
1 in 8418
1 in 12342
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 26552
1 in 44625
1 in 25113
1 in 33670
1 in 49368
1 in 6072
1 in 10200
1 in 5740
1 in 7696
1 in 11284
1 in 26552
1 in 44625
1 in 25113
1 in 33670
1 in 49368
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CPT2Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal; Carnitine palmitoyltransferase type 2 deficiency, infantileAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 147
1 in 197
1 in 266
1 in 523
1 in 251
1 in 47
1 in 682
1 in 919
1 in 1241
1 in 2439
1 in 1171
1 in 1594
1 in 400955
1 in 723971
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 304805
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2728
1 in 3675
1 in 4962
1 in 9756
1 in 4682
1 in 6375
1 in 588
1 in 788
1 in 1064
1 in 2092
1 in 1004
1 in 191
1 in 2728
1 in 3675
1 in 4962
1 in 9756
1 in 4682
1 in 6375
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CR2Immunodeficiency, common variable, type 7Autosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
CRADDMental retardation, autosomal recessive, type 34, with variant lissencephalyAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CRB1Retinitis pigmentosa, type 12; Leber congenital amaurosis, type 8Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 158
1 in 116
1 in 187
1 in 531
1 in 263
1 in 203
1 in 149
1 in 241
1 in 684
1 in 339
1 in 128433
1 in 69325
1 in 180160
<1 in 1,000,000
1 in 356359
1 in 165187
1 in 89291
1 in 232046
<1 in 1,000,000
1 in 458990
1 in 813
1 in 598
1 in 963
1 in 2736
1 in 1355
1 in 632
1 in 464
1 in 748
1 in 2124
1 in 1052
1 in 813
1 in 598
1 in 963
1 in 2736
1 in 1355
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CRB2Ventriculomegaly with cystic kidney diseaseAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CRBNMental retardation, autosomal recessive, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
CRIPTShort stature with microcephaly and distinctive faciesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CRLF1Cold-induced sweating syndrome type 1Autosomal recessiveCaucasian/European population1 in 11511 in 115001<1 in 1,000,000<1 in 1,000,0001 in 4600041 in 46041 in 4600041 in 4
CRPPAMuscular dystrophy-dystroglycanopathy, type A7; Muscular dystrophy-dystroglycanopathy, type C7Autosomal recessiveGeneral population≤1 in 500<1 in 1071<1 in 1,000,000<1 in 1,000,000<1 in 4285<1 in 2000<1 in 42851 in 4
CRTAPOsteogenesis imperfecta, type 7Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,416
1 in 546
1 in 1377
1 in 1059
1 in 1122
1 in 3,539
1 in 1365
1 in 3443
1 in 2648
1 in 2805
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 14154
1 in 5460
1 in 13770
1 in 10590
1 in 11220
1 in 5664
1 in 2184
1 in 5508
1 in 4236
1 in 4488
1 in 14154
1 in 5460
1 in 13770
1 in 10590
1 in 11220
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CRYAACataract 9, multiple typesAutosomal recessive*General population≤1 in 500<1 in 5995<1 in 1,000,000<1 in 1,000,000<1 in 23980<1 in 2000<1 in 239801 in 4
CRYABMyopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; Cataract 16, multiple typesAutosomal recessive; Autosomal recessive*General population≤1 in 500<1 in 1749<1 in 1,000,000<1 in 1,000,000<1 in 6997<1 in 2000<1 in 69971 in 4
CRYBB1Cataract 17Autosomal recessive*General population≤1 in 500<1 in 2998<1 in 1,000,000<1 in 1,000,000<1 in 11992<1 in 2000<1 in 119921 in 4
CRYBB3Cataract 22Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
CSF2RASurfactant metabolism dysfunction, pulmonary, type 4X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
CSF2RBSurfactant metabolism dysfunction, pulmonary, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
CSF3RNeutropenia, severe congenital, type 7, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 637<1 in 1,000,000<1 in 1,000,000<1 in 2547<1 in 2000<1 in 25471 in 4
CSPP1Joubert syndrome 21Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CSTAPeeling skin syndrome, type 4Autosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
CSTBEpilepsy, progressive myoclonic type 1A (Unverricht and Lundborg)Autosomal recessiveGeneral population≤1 in 500<1 in 900<1 in 1,000,000<1 in 1,000,000<1 in 3600<1 in 2000<1 in 36001 in 4
CTC1Cerebroretinal microangiopathy with calcifications and cystsAutosomal recessiveCaucasian/European population1 in 2561 in 3541 in 3625751 in 5014821 in 14161 in 10241 in 14161 in 4
CTDP1Congenital cataracts, facial dysmorphism, and neuropathyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CTHCystathioninuriaAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 80
N/A
N/A
N/A
N/A
1 in 7,870
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 31479
N/A
N/A
N/A
N/A
1 in 319
N/A
N/A
N/A
N/A
1 in 31479
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CTNSNephropathic cystinosisAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 249
1 in 942
1 in 393
1 in 1026
1 in 1696
N/A
1 in 100
1 in 900
1 in 3415
1 in 1425
1 in 3719
1 in 6148
N/A
1 in 1000
1 in 896400
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
1 in 400000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
1 in 3600
1 in 13659
1 in 5699
1 in 14877
1 in 24592
N/A
1 in 4000
1 in 996
1 in 3768
1 in 1572
1 in 4104
1 in 6784
N/A
1 in 400
1 in 3600
1 in 13659
1 in 5699
1 in 14877
1 in 24592
N/A
1 in 4000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CTPS1Immunodeficiency 24Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CTSAGalactosialidosisAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 64
1 in 248
1 in 2686
1 in 310
1 in 127
1 in 118
1 in 461
1 in 4988
1 in 576
1 in 236
1 in 30208
1 in 456887
<1 in 1,000,000
1 in 713886
1 in 119815
1 in 55696
1 in 848504
<1 in 1,000,000
<1 in 1,000,000
1 in 222514
1 in 472
1 in 1842
1 in 19953
1 in 2303
1 in 943
1 in 256
1 in 992
1 in 10744
1 in 1240
1 in 508
1 in 472
1 in 1842
1 in 19953
1 in 2303
1 in 943
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CTSCHaim-Munk syndrome; Papillon-Lefevre syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 500
1 in 500
N/A
N/A
1 in 500
1 in 2,496
1 in 2500
N/A
N/A
1 in 2500
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
1 in 9984
1 in 10000
N/A
N/A
1 in 10000
1 in 2000
1 in 2000
N/A
N/A
1 in 2000
1 in 9984
1 in 10000
N/A
N/A
1 in 10000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CTSDCeroid lipofuscinosis, neuronal, type 10Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,003
1 in 1591
1 in 9179
1 in 1912
1 in 1160
1 in 4,510
1 in 7160
1 in 41306
1 in 8604
1 in 5220
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 18040
1 in 28638
1 in 165222
1 in 34416
1 in 20880
1 in 4012
1 in 6364
1 in 36716
1 in 7648
1 in 4640
1 in 18040
1 in 28638
1 in 165222
1 in 34416
1 in 20880
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CTSFCeroid lipofuscinosis, neuronal, 13, Kufs typeAutosomal recessiveCaucasian/European population1 in 1773ReducedReducedReducedReduced1 in 7092Reduced1 in 4
CTSKPycnodysostosisAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,067
1 in 361
1 in 413
1 in 350
1 in 542
1 in 3,910
1 in 1324
1 in 1514
1 in 1283
1 in 1987
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 15639
1 in 5295
1 in 6057
1 in 5133
1 in 7949
1 in 4268
1 in 1444
1 in 1652
1 in 1400
1 in 2168
1 in 15639
1 in 5295
1 in 6057
1 in 5133
1 in 7949
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CUBNMegaloblastic anemia 1 (Imerslund-Grasbeck syndrome)Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
CUL4BMental retardation, X-linked, syndromic, type 15 (Cabezas type)X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500,000
N/A
N/A
N/A
N/A
1 in 636,300
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
CUL73M syndrome 1Autosomal recessiveCaucasian/European population1 in 4091 in 1005<1 in 1,000,000<1 in 1,000,0001 in 40211 in 16361 in 40211 in 4
CWC27Retinitis pigmentosa with or without skeletal anomaliesAutosomal recessiveCaucasian/European population1 in 910ReducedReducedReducedReduced1 in 3640Reduced1 in 4
CWF19L1Spinocerebellar ataxia, autosomal recessive, type 17Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CYB5A46,XY disorder of sex development due to isolated 17,20-lyase deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
CYB5R3Methemoglobinemia, type 1; Methemoglobinemia, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 962<1 in 1,000,000<1 in 1,000,000<1 in 3846<1 in 2000<1 in 38461 in 4
CYBAChronic granulomatous disease, type 4Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 1,689
1 in 806
N/A
1 in 1896
1 in 1933
<1 in 500
1 in 13
1 in 1930
1 in 921
N/A
1 in 2167
1 in 2209
1 in 67167
1 in 65
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3380
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 16900
1 in 7721
1 in 3685
N/A
1 in 8667
1 in 8837
1 in 268667
1 in 260
1 in 6756
1 in 3224
N/A
1 in 7584
1 in 7732
1 in 8060
1 in 52
1 in 7721
1 in 3685
N/A
1 in 8667
1 in 8837
1 in 268667
1 in 260
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CYBBChronic granulomatous disease, X-linkedX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 100,000
N/A
N/A
N/A
N/A
1 in 250,000
N/A
N/A
N/A
N/A
1 in 999999
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
CYC1Mitochondrial complex III deficiency, nuclear type 6Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CYP11A146,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 917<1 in 1,000,000<1 in 1,000,000<1 in 3667<1 in 2000<1 in 36671 in 4
CYP11B1Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 792
1 in 792
1 in 1485
1 in 284
1 in 339
1 in 1,955
1 in 1957
1 in 3669
1 in 702
1 in 838
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 797071
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7821
1 in 7827
1 in 14675
1 in 2807
1 in 3350
1 in 3168
1 in 3168
1 in 5940
1 in 1136
1 in 1356
1 in 7821
1 in 7827
1 in 14675
1 in 2807
1 in 3350
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CYP11B2Hypoaldosteronism, congenital, due to CMO I deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 825
1 in 502
1 in 1457
1 in 1917
1 in 945
N/A
1 in 30
1 in 943
1 in 574
1 in 1665
1 in 2191
1 in 1080
N/A
1 in 600
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
1 in 72000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
1 in 3771
1 in 2295
1 in 6661
1 in 8763
1 in 4320
N/A
1 in 2400
1 in 3300
1 in 2008
1 in 5828
1 in 7668
1 in 3780
N/A
1 in 120
1 in 3771
1 in 2295
1 in 6661
1 in 8763
1 in 4320
N/A
1 in 2400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CYP17A117 alpha(α)-hydroxylase/17,20-lyase deficiency Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 560
1 in 2147
1 in 409
1 in 1018
1 in 1313
1 in 679
1 in 2602
1 in 496
1 in 1234
1 in 1592
<1 in 1,000,000
<1 in 1,000,000
1 in 811059
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 983102
<1 in 1,000,000
<1 in 1,000,000
1 in 2714
1 in 10410
1 in 1983
1 in 4936
1 in 6366
1 in 2240
1 in 8588
1 in 1636
1 in 4072
1 in 5252
1 in 2714
1 in 10410
1 in 1983
1 in 4936
1 in 6366
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CYP19A1Aromatase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,159
1 in 671
1 in 559
1 in 905
1 in 1009
1 in 3,532
1 in 1098
1 in 915
1 in 1481
1 in 1651
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 14129
1 in 4392
1 in 3659
1 in 5924
1 in 6604
1 in 8636
1 in 2684
1 in 2236
1 in 3620
1 in 4036
1 in 14129
1 in 4392
1 in 3659
1 in 5924
1 in 6604
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CYP1B1Glaucoma, primary congenital, type 3AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 196
1 in 246
1 in 339
1 in 325
1 in 1667
1 in 407
1 in 513
1 in 706
1 in 677
1 in 3473
1 in 319284
1 in 504300
1 in 957675
1 in 880208
<1 in 1,000,000
1 in 663410
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1629
1 in 2050
1 in 2825
1 in 2708
1 in 13892
1 in 784
1 in 984
1 in 1356
1 in 1300
1 in 6668
1 in 1629
1 in 2050
1 in 2825
1 in 2708
1 in 13892
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CYP21A2Congenital adrenal hyperplasia due to 21-hydroxylase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 62
1 in 79
1 in 62
1 in 42-59
1 in 73
1 in 40
1 in 1,228
1 in 439
1 in 620
1 in 500
1 in 730
1 in 500
1 in 306412
1 in 138689
1 in 153760
1 in 100000
1 in 213160
1 in 80000
<1 in 1,000,000
1 in 770494
<1 in 1,000,000
1 in 1000000
<1 in 1,000,000
1 in 1000000
1 in 4913
1 in 1756
1 in 2480
1 in 2000
1 in 2920
1 in 2000
1 in 249
1 in 316
1 in 248
1 in 200
1 in 292
1 in 160
1 in 4913
1 in 1756
1 in 2480
1 in 2000
1 in 2920
1 in 2000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CYP24A1Hypercalcemia, infantile, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
CYP26B1Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomaliesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CYP26C1Focal facial dermal dysplasia 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CYP27A1Cerebrotendinous xanthomatosisAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 275
1 in 285
1 in 122
1 in 143
1 in 302
1 in 331
1 in 1,113
1 in 1157
1 in 495
1 in 580
1 in 1226
1 in 33100
<1 in 1,000,000
<1 in 1,000,000
1 in 241646
1 in 331996
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 980799
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4452
1 in 4627
1 in 1981
1 in 2322
1 in 4903
1 in 132400
1 in 1100
1 in 1140
1 in 488
1 in 572
1 in 1208
1 in 1324
1 in 4452
1 in 4627
1 in 1981
1 in 2322
1 in 4903
1 in 132400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CYP27B1Vitamin D-dependent rickets, type 1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
CYP2R1Rickets due to defect in vitamin D 25-hydroxylationAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CYP2U1Spastic paraplegia 56, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
CYP4F22Ichthyosis, congenital, autosomal recessive, type 5Autosomal recessiveCaucasian/European population1 in 9011 in 1383<1 in 1,000,000<1 in 1,000,0001 in 55331 in 36041 in 55331 in 4
CYP4V2Bietti crystalline corneoretinal dystrophyAutosomal recessiveGeneral population≤1 in 500<1 in 769<1 in 1,000,000<1 in 1,000,000<1 in 3078<1 in 2000<1 in 30781 in 4
CYP7B1Spastic paraplegia type 5A, autosomal recessiveAutosomal recessiveCaucasian/European population1 in 3241 in 5211 in 675720<1 in 1,000,0001 in 20861 in 12961 in 20861 in 4
D2HGDHD-2-hydroxyglutaric aciduriaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DAG1Muscular dystrophy-dystroglycanopathy type A9; Muscular dystrophy-dystroglycanopathy type C9Autosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
DARS1Hypomyelination with brainstem and spinal cord involvement and leg spasticityAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DARS2Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationAutosomal recessiveGeneral population≤1 in 500<1 in 912<1 in 1,000,000<1 in 1,000,000<1 in 3647<1 in 2000<1 in 36471 in 4
DBHDopamine beta-hydroxylase deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1125<1 in 1,000,000<1 in 1,000,000<1 in 4500<1 in 2000<1 in 45001 in 4
DBTMaple syrup urine disease, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 410
1 in 480
<1 in 500
1 in 280
1 in 480
1 in 40,900
1 in 48000
1 in 50000
1 in 28000
1 in 48000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 163604
1 in 192000
1 in 200000
1 in 112000
1 in 192000
1 in 1640
1 in 1920
1 in 2000
1 in 1120
1 in 1920
1 in 163604
1 in 192000
1 in 200000
1 in 112000
1 in 192000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DCAF17Woodhouse-Sakati syndromeAutosomal recessiveCaucasian/European population1 in 10531 in 1974<1 in 1,000,000<1 in 1,000,0001 in 78941 in 42121 in 78941 in 4
DCCGaze palsy, familial horizontal, with progressive scoliosis, type 2 Autosomal recessiveGeneral population≤1 in 500<1 in 1312<1 in 1,000,000<1 in 1,000,000<1 in 5249<1 in 2000<1 in 52491 in 4
DCDC2Sclerosing cholangitis, neonatal; Nephronophthisis 19Autosomal recessiveGeneral population≤1 in 500<1 in 1167<1 in 1,000,000<1 in 1,000,000<1 in 4666<1 in 2000<1 in 46661 in 4
DCHS1Van Maldergem syndrome 1Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DCLRE1COmenn syndrome; Severe combined immunodeficiency, Athabascan typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 903
1 in 511
1 in 958
1 in 901
1 in 1907
1 in 1,410
1 in 798
1 in 1497
1 in 1408
1 in 2980
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5642
1 in 3194
1 in 5988
1 in 5631
1 in 11919
1 in 3612
1 in 2044
1 in 3832
1 in 3604
1 in 7628
1 in 5642
1 in 3194
1 in 5988
1 in 5631
1 in 11919
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DCPSAl-Raqad syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DCXLissencephaly, X-linked, type 1X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 50,000
N/A
N/A
N/A
N/A
1 in 158,748
N/A
N/A
N/A
N/A
1 in 634991
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
DDB2Xeroderma pigmentosum, complementation group EAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 3,138
1 in 5766
1 in 1533
1 in 15308
1 in 8129
1 in 15,686
1 in 28830
1 in 7665
1 in 76540
1 in 40645
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 62744
1 in 115320
1 in 30660
1 in 306160
1 in 162580
1 in 12552
1 in 23064
1 in 6132
1 in 61232
1 in 32516
1 in 62744
1 in 115320
1 in 30660
1 in 306160
1 in 162580
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DDCAromatic L-amino acid decarboxylase deficiencyAutosomal recessiveCaucasian/European population1 in 9761 in 1394<1 in 1,000,000<1 in 1,000,0001 in 55751 in 39041 in 55751 in 4
DDHD1Spastic paraplegia 28, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DDHD2Spastic paraplegia 54, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DDR2Spondylometaepiphyseal dysplasia, short limb-hand typeAutosomal recessiveGeneral population≤1 in 500<1 in 700<1 in 1,000,000<1 in 1,000,000<1 in 2801<1 in 2000<1 in 28011 in 4
DDRGK1Spondyloepimetaphyseal dysplasia, Shohat typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DDX11Warsaw breakage syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
DDX3XMental retardation, X-linked, type 102X-linkedGeneral population≤1 in 500<1 in 572581<1 in 1,000,000 - -1 in 4 - -
DDX59Orofaciodigital syndrome VAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DENND5AEpileptic encephalopathy, early infantile, 49Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DESMyopathy, myofibrillar, type 1Autosomal recessive*General population≤1 in 500<1 in 724<1 in 1,000,000<1 in 1,000,000<1 in 2895<1 in 2000<1 in 28951 in 4
DGAT1?Diarrhea 7, protein-losing enteropathy typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DGKENephrotic syndrome, type 7Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DGUOKDGUOK-related mitochondrial DNA depletion syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 3123<1 in 1,000,000<1 in 1,000,000<1 in 12492<1 in 2000<1 in 124921 in 4
DHCR24DesmosterolosisAutosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
DHCR7Smith-Lemli-Opitz syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 70
1 in 51
1 in 357
1 in 334
1 in 118
1 in 38
1 in 1,756
1 in 1275
1 in 8925
1 in 8350
1 in 2950
1 in 1278
1 in 500310
1 in 260100
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 195970
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7025
1 in 5100
1 in 35700
1 in 33400
1 in 11800
1 in 5112
1 in 285
1 in 204
1 in 1428
1 in 1336
1 in 472
1 in 153
1 in 7025
1 in 5100
1 in 35700
1 in 33400
1 in 11800
1 in 5112
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DHDDSRetinitis pigmentosa, type 59Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 6,008
1 in 4291
N/A
1 in 6490
1 in 4223
1 in 117
1 in 8,010
1 in 5721
N/A
1 in 8653
1 in 5631
1 in 3900
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 32041
1 in 22885
N/A
1 in 34613
1 in 22523
1 in 15600
1 in 24032
1 in 17164
N/A
1 in 25960
1 in 16892
1 in 468
1 in 32041
1 in 22885
N/A
1 in 34613
1 in 22523
1 in 15600
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DHFRMegaloblastic anemia due to dihydrofolate reductase deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 600<1 in 1,000,000<1 in 1,000,000<1 in 2402<1 in 2000<1 in 24021 in 4
DHH46,XY complete gonadal dysgenesisAutosomal recessiveGeneral population≤1 in 500<1 in 688<1 in 1,000,000<1 in 1,000,000<1 in 2751<1 in 2000<1 in 27511 in 4
DHODHMiller syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1749<1 in 1,000,000<1 in 1,000,000<1 in 6997<1 in 2000<1 in 69971 in 4
DHPSNeurodevelopmental disorder with seizures and speech and walking impairmentAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DHTKD12-aminoadipic 2-oxoadipic aciduriaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DIAPH1Seizures, cortical blindness, microcephaly syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 654<1 in 1,000,000<1 in 1,000,000<1 in 2617<1 in 2000<1 in 26171 in 4
DIS3L2Perlman syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 616<1 in 1,000,000<1 in 1,000,000<1 in 2463<1 in 2000<1 in 24631 in 4
DKC1Dyskeratosis congenita, X-linkedX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 250,000
N/A
N/A
N/A
N/A
1 in 459,999
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
DLATPyruvate dehydrogenase E2 deficiencyAutosomal recessiveCaucasian/European population1 in 12651 in 3161<1 in 1,000,000<1 in 1,000,0001 in 126441 in 50601 in 126441 in 4
DLDDihydrolipoamide dehydrogenase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 1,506
1 in 500
1 in 2252
1 in 1183
1 in 1684
1 in 100
1 in 14,549
1 in 4833
1 in 21769
1 in 11436
1 in 16279
1 in 2002
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 801274
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 58197
1 in 19333
1 in 87077
1 in 45743
1 in 65115
1 in 8006
1 in 6024
1 in 2000
1 in 9008
1 in 4732
1 in 6736
1 in 400
1 in 58197
1 in 19333
1 in 87077
1 in 45743
1 in 65115
1 in 8006
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DLG3Mental retardation, X-linked, type 90X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 45,000
N/A
N/A
N/A
N/A
1 in 100,000
N/A
N/A
N/A
N/A
1 in 395995
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
DLL3Spondylocostal dysostosis type 1Autosomal recessiveGeneral population≤1 in 500<1 in 2748<1 in 1,000,000<1 in 1,000,000<1 in 10993<1 in 2000<1 in 109931 in 4
DMDDuchenne/Becker muscular dystrophyX-linkedGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 2,942
N/A
N/A
N/A
N/A
N/A
1 in 58,819
N/A
N/A
N/A
N/A
N/A
1 in 235277
N/A
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
-
-
DMGDHDimethylglycine dehydrogenase deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DMP1Hypophosphatemic rickets, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DMXL2Developmental and epileptic encephalopathy, type 81Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DNAAF1Ciliary dyskinesia, primary, type 13Autosomal recessiveGeneral population≤1 in 500<1 in 864<1 in 1,000,000<1 in 1,000,000<1 in 3455<1 in 2000<1 in 34551 in 4
DNAAF2Ciliary dyskinesia, primary, type 10Autosomal recessiveGeneral population≤1 in 500<1 in 572<1 in 1,000,000<1 in 1,000,000<1 in 2287<1 in 2000<1 in 22871 in 4
DNAAF3Ciliary dyskinesia, primary, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 709<1 in 1,000,000<1 in 1,000,000<1 in 2835<1 in 2000<1 in 28351 in 4
DNAAF4Ciliary dyskinesia, primary, type 25Autosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
DNAAF5Ciliary dyskinesia, primary, type 18Autosomal recessiveGeneral population≤1 in 500<1 in 637<1 in 1,000,000<1 in 1,000,000<1 in 2547<1 in 2000<1 in 25471 in 4
DNAAF6Ciliary dyskinesia, primary, 36, X-linkedX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
DNAH1Spermatogenic failure 18Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DNAH11Ciliary dyskinesia, primary, type 7, with or without situs inversusAutosomal recessiveGeneral population≤1 in 500<1 in 799<1 in 1,000,000<1 in 1,000,000<1 in 3195<1 in 2000<1 in 31951 in 4
DNAH5Ciliary dyskinesia, primary, type 3, with or without situs inversusAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 87
1 in 169
1 in 193
1 in 326
1 in 204
1 in 144
1 in 283
1 in 331
1 in 378
1 in 639
1 in 400
1 in 4567
1 in 58435
1 in 223777
1 in 291848
1 in 832678
1 in 326064
<1 in 1,000,000
1 in 113814
1 in 438326
1 in 571661
<1 in 1,000,000
1 in 638681
<1 in 1,000,000
1 in 675
1 in 1324
1 in 1512
1 in 2554
1 in 1598
1 in 18269
1 in 346
1 in 676
1 in 772
1 in 1304
1 in 816
1 in 548
1 in 675
1 in 1324
1 in 1512
1 in 2554
1 in 1598
1 in 18269
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DNAH9Ciliary dyskinesia, primary, 40Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DNAI1Ciliary dyskinesia, primary, type 1, with or without situs inversusAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 323
1 in 434
N/A
1 in 1184
1 in 1140
1 in 366
1 in 556
1 in 747
N/A
1 in 2039
1 in 1963
1 in 36546
1 in 717778
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2222
1 in 2990
N/A
1 in 8156
1 in 7853
1 in 146186
1 in 1292
1 in 1736
N/A
1 in 4736
1 in 4560
1 in 1462
1 in 2222
1 in 2990
N/A
1 in 8156
1 in 7853
1 in 146186
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DNAI2Ciliary dyskinesia, primary, type 9, with or without situs inversusAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 758
1 in 414
1 in 1437
1 in 669
1 in 632
1 in 200
1 in 1,248
1 in 682
1 in 2367
1 in 1102
1 in 1041
1 in 20000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4991
1 in 2728
1 in 9467
1 in 4408
1 in 4164
1 in 80000
1 in 3032
1 in 1656
1 in 5748
1 in 2676
1 in 2528
1 in 800
1 in 4991
1 in 2728
1 in 9467
1 in 4408
1 in 4164
1 in 80000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DNAJB13Ciliary dyskinesia, primary, 34Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DNAJB2Spinal muscular atrophy, distal, autosomal recessive, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 1666<1 in 1,000,000<1 in 1,000,000<1 in 6664<1 in 2000<1 in 66641 in 4
DNAJC12Hyperphenylalaninemia, mild, non-BH4-deficientAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DNAJC193-methylglutaconic aciduria, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
DNAJC21Bone marrow failure syndrome 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DNAJC6Parkinson disease, type 19A, juvenile-onset; Parkinson disease, type 19B, early-onsetAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
DNAL1Ciliary dyskinesia, primary, type 16Autosomal recessiveGeneral population<1 in 500<1 in 666<1 in 1,000,000<1 in 1,000,000<1 in 2665<1 in 2000<1 in 26651 in 4
DNASE1L3Systemic lupus erythematosus 16Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DNM1LEncephalopathy due to defective mitochondrial and peroxisomal fission, type 1Autosomal recessive*General population≤1 in 500<1 in 695<1 in 1,000,000<1 in 1,000,000<1 in 2779<1 in 2000<1 in 27791 in 4
DNM2Lethal congenital contracture syndrome, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 1562<1 in 1,000,000<1 in 1,000,000<1 in 6248<1 in 2000<1 in 62481 in 4
DNMT3BImmunodeficiency-centromeric instability-facial anomalies syndrome, type 1Autosomal recessiveCaucasian/European population1 in 26841 in 5367<1 in 1,000,000<1 in 1,000,0001 in 214681 in 107361 in 214681 in 4
DOCK2Immunodeficiency 40Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DOCK6Adams-Oliver syndrome 2Autosomal recessiveGeneral population≤1 in 500<1 in 909<1 in 1,000,000<1 in 1,000,000<1 in 3637<1 in 2000<1 in 36371 in 4
DOCK7Epileptic encephalopathy, early infantile, 23Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DOCK8Hyper-IgE recurrent infection syndrome, autosomal recessiveAutosomal recessiveCaucasian/European population1 in 2211 in 5951 in 525980<1 in 1,000,0001 in 23801 in 8841 in 23801 in 4
DOK7Fetal akinesia deformation sequence, type 3; Myasthenic syndrome, congenital, type 10Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 262
1 in 178
1 in 255
1 in 193
1 in 255
1 in 719
1 in 490
1 in 701
1 in 531
1 in 701
1 in 753250
1 in 348524
1 in 715275
1 in 409739
1 in 715275
<1 in 1,000,000
1 in 958441
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2875
1 in 1958
1 in 2805
1 in 2123
1 in 2805
1 in 1048
1 in 712
1 in 1020
1 in 772
1 in 1020
1 in 2875
1 in 1958
1 in 2805
1 in 2123
1 in 2805
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DOLKCongenital disorder of glycosylation, type 1MAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 563
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 2252
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 2252
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DONSONMicrocephaly, short stature, and limb abnormalitiesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DPAGT1Congenital disorder of glycosylation, type 1J; Myasthenic syndrome, congenital, type 13Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 808
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 3232
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 3232
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DPH1Developmental delay with short stature, dysmorphic features, and sparse hairAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DPM1Congenital disorder of glycosylation, type 1EAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 1,750
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 6997
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 6997
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DPM2Congenital disorder of glycosylation, type IuAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DPM3Congenital disorder of glycosylation, type IoAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DPY19L2Male infertility spermatogenic failure, type 9Autosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
DPYDDihydropyrimidine dehydrogenase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 558
1 in 710
1 in 196
1 in 248
1 in 970
1 in 55,701
1 in 71000
1 in 19600
1 in 24800
1 in 97000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 222804
1 in 284000
1 in 78400
1 in 99200
1 in 388000
1 in 2232
1 in 2840
1 in 784
1 in 992
1 in 3880
1 in 222804
1 in 284000
1 in 78400
1 in 99200
1 in 388000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DPYSDihydropyrimidinuriaAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
DRAM2Cone-rod dystrophy 21Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DRC1Ciliary dyskinesia, primary, 21Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DSEEhlers-Danlos syndrome, musculocontractural type 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DSG1Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgEAutosomal recessiveGeneral population≤1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
DSG4Hypotrichosis, type 6Autosomal recessiveGeneral population≤1 in 500<1 in 1167<1 in 1,000,000<1 in 1,000,000<1 in 4666<1 in 2000<1 in 46661 in 4
DSPCardiomyopathy, dilated, with woolly hair and keratoderma; Epidermolysis bullosa, lethal acantholyticAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DSTEpidermolysis bullosa simplex, autosomal recessive, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 723<1 in 1,000,000<1 in 1,000,000<1 in 2890<1 in 2000<1 in 28901 in 4
DSTYKSpastic paraplegia 23Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DTNBP1Hermansky-Pudlak syndrome 7Autosomal recessiveCaucasian/European population1 in 2951 in 29401<1 in 1,000,000<1 in 1,000,0001 in 1176041 in 11801 in 1176041 in 4
DUOX2Thyroid dyshormonogenesis, type 6Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 80
N/A
N/A
N/A
N/A
1 in 170
N/A
N/A
N/A
N/A
1 in 54064
N/A
N/A
N/A
N/A
1 in 115077
N/A
N/A
N/A
N/A
1 in 678
N/A
N/A
N/A
N/A
1 in 319
N/A
N/A
N/A
N/A
1 in 678
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DUOXA2Thyroid dyshormonogenesis, type 5Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 80
N/A
N/A
N/A
N/A
1 in 144
N/A
N/A
N/A
N/A
1 in 45921
N/A
N/A
N/A
N/A
1 in 83021
N/A
N/A
N/A
N/A
1 in 576
N/A
N/A
N/A
N/A
1 in 319
N/A
N/A
N/A
N/A
1 in 576
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DYMSmith-McCort dysplasia; Dyggve-Melchior-Clausen diseaseAutosomal recessiveGeneral population≤1 in 500<1 in 1056<1 in 1,000,000<1 in 1,000,000<1 in 4222<1 in 2000<1 in 42221 in 4
DYNC2H1Short-rib thoracic dysplasia, type 3, with or without polydactylyAutosomal recessiveGeneral population≤1 in 500<1 in 809<1 in 1,000,000<1 in 1,000,000<1 in 3236<1 in 2000<1 in 32361 in 4
DYNC2I1Short-rib thoracic dysplasia 8 with or without polydactylyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DYNC2I2Short-rib thoracic dysplasia 11 with or without polydactylyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DYNC2LI1Short-rib thoracic dysplasia 15 with polydactylyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DYNLT2BShort-rib thoracic dysplasia 17 with or without polydactylyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
DYSFMiyoshi muscular dystrophy, type 1; Limb-girdle muscular dystrophy, type 2 (LGMD R2)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 199
1 in 118
1 in 141
1 in 199
1 in 182
N/A
1 in 13
1 in 1,050
1 in 625
1 in 747
1 in 1054
1 in 964
N/A
1 in 433
1 in 835783
1 in 295070
1 in 421308
1 in 839204
1 in 701947
N/A
1 in 22533
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
1 in 751111
1 in 4200
1 in 2501
1 in 2988
1 in 4217
1 in 3857
N/A
1 in 1733
1 in 796
1 in 472
1 in 564
1 in 796
1 in 728
N/A
1 in 52
1 in 4200
1 in 2501
1 in 2988
1 in 4217
1 in 3857
N/A
1 in 1733
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
DZIP1LPolycystic kidney disease 5Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EARS2Combined oxidative phosphorylation deficiency 12Autosomal recessiveGeneral population≤1 in 500<1 in 559<1 in 1,000,000<1 in 1,000,000<1 in 2237<1 in 2000<1 in 22371 in 4
EBPMEND syndrome; Chondrodysplasia punctataX-linkedGeneral population≤1 in 500<1 in 1095238<1 in 1,000,000 - -1 in 4 - -
ECEL1Arthrogryposis, distal, type 5DAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ECHS1Mitochondrial short-chain enoyl-CoA hydratase 1 deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ECM1Urbach-Wiethe diseaseAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
EDAEctodermal dysplasia, type 1, hypohidrotic, X-linkedX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 5,715
N/A
N/A
N/A
N/A
1 in 10,610
N/A
N/A
N/A
N/A
1 in 42442
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
EDAREctodermal dysplasia 10B, hypohidrotic/hair/tooth typeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 131
1 in 65
N/A
N/A
1 in 65
1 in 252
1 in 125
N/A
N/A
1 in 125
1 in 132544
1 in 32602
N/A
N/A
1 in 32602
1 in 254752
1 in 62892
N/A
N/A
1 in 62892
1 in 1009
1 in 502
N/A
N/A
1 in 502
1 in 525
1 in 260
N/A
N/A
1 in 260
1 in 1009
1 in 502
N/A
N/A
1 in 502
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
EDARADDEctodermal dysplasia 11B, hypohidrotic/hair/tooth typeAutosomal recessiveGeneral population1 in 3851 in 5141 in 791895<1 in 1,000,0001 in 20541 in 15421 in 20541 in 4
EDN1Auriculocondylar syndrome, type 3Autosomal recessiveGeneral population≤1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
EDN3Waardenburg syndrome, type 4BAutosomal recessiveGeneral population≤1 in 500<1 in 1749<1 in 1,000,000<1 in 1,000,000<1 in 6997<1 in 2000<1 in 69971 in 4
EDNRBABCD syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1071<1 in 1,000,000<1 in 1,000,000<1 in 4285<1 in 2000<1 in 42851 in 4
EFEMP2Cutis laxa, autosomal recessive, type 1BAutosomal recessiveCaucasian/European population1 in 24571 in 5220<1 in 1,000,000<1 in 1,000,0001 in 208801 in 98281 in 208801 in 4
EFL1Shwachman-Diamond syndrome 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EFNB1Craniofrontonasal dysplasiaX-linkedGeneral population≤1 in 500<1 in 1178571<1 in 1,000,000 - -1 in 4 - -
EGFHypomagnesemia 4, renalAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EGFR?Inflammatory skin and bowel disease, neonatal, 2 Autosomal recessiveGeneral population≤1 in 500<1 in 550<1 in 1,000,000<1 in 1,000,000<1 in 2202<1 in 2000<1 in 22021 in 4
EGR2Dejerine-Sottas diseaseAutosomal recessive*General population≤1 in 500<1 in 612<1 in 1,000,000<1 in 1,000,000<1 in 2446<1 in 2000<1 in 24461 in 4
EIF2AK3Wolcott-Rallison syndromeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 2,500
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 9984
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
1 in 9984
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
EIF2AK4Pulmonary venoocclusive disease 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EIF2B1Leukoencephalopathy with vanishing white matterAutosomal recessiveCaucasian/European population1 in 153ReducedReducedReducedReduced1 in 612Reduced1 in 4
EIF2B2Leukoencephalopathy with vanishing white matterAutosomal recessiveCaucasian/European population1 in 2271 in 2891 in 2620821 in 3332441 in 11551 in 9081 in 11551 in 4
EIF2B3Leukoencephalopathy with vanishing white matterAutosomal recessiveCaucasian/European population1 in 4141 in 965<1 in 1,000,000<1 in 1,000,0001 in 38591 in 16561 in 38591 in 4
EIF2B4Leukoencephalopathy with vanishing white matterAutosomal recessiveCaucasian/European population1 in 21211 in 2474<1 in 1,000,000<1 in 1,000,0001 in 98971 in 84841 in 98971 in 4
EIF2B5Leukoencephalopathy with vanishing white matterAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 390
1 in 940
1 in 1502
1 in 3078
1 in 458
1 in 974
1 in 2350
1 in 3755
1 in 7695
1 in 1145
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3894
1 in 9400
1 in 15020
1 in 30780
1 in 4580
1 in 1560
1 in 3760
1 in 6008
1 in 12312
1 in 1832
1 in 3894
1 in 9400
1 in 15020
1 in 30780
1 in 4580
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
EIF2S3MEHMO syndromeX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
EIF4A3Robin sequence with cleft mandible and limb anomaliesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ELAC2Combined oxidative phosphorylation deficiency 17Autosomal recessiveGeneral population≤1 in 500<1 in 688<1 in 1,000,000<1 in 1,000,000<1 in 2751<1 in 2000<1 in 27511 in 4
ELMO2Vascular malformation, primary intraosseousAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ELOVL4Ichthyosis, spastic quadriplegia, and mental retardationAutosomal recessiveGeneral population≤1 in 500<1 in 1624<1 in 1,000,000<1 in 1,000,000<1 in 6498<1 in 2000<1 in 64981 in 4
ELP1Familial dysautonomiaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 506
1 in 808
1 in 657
1 in 853
1 in 594
1 in 34
1 in 621
1 in 992
1 in 807
1 in 1047
1 in 729
1 in 2692
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 376923
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2484
1 in 3969
1 in 3227
1 in 4190
1 in 2918
1 in 10769
1 in 2024
1 in 3232
1 in 2628
1 in 3412
1 in 2376
1 in 140
1 in 2484
1 in 3969
1 in 3227
1 in 4190
1 in 2918
1 in 10769
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ELP2Mental retardation, autosomal recessive, type 58Autosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
EMC1Cerebellar atrophy, visual impairment, and psychomotor retardationAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EMDEmery-Dreifuss muscular dystrophy, type 1, X-linkedX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 88,496
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
EMG1Bowen-Conradi syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EML1Band heterotopiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EMP2Nephrotic syndrome, type 10Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ENAMAmelogenesis imperfecta, type 1CAutosomal recessiveGeneral population≤1 in 500<1 in 1333<1 in 1,000,000<1 in 1,000,000<1 in 5332<1 in 2000<1 in 53321 in 4
ENO3?Glycogen storage disease XIIIAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ENPP1Arterial calcification, generalized, of infancy, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 1785<1 in 1,000,000<1 in 1,000,000<1 in 7140<1 in 2000<1 in 71401 in 4
ENTPD1Spastic paraplegia, type 64, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
EOGTAdams-Oliver syndrome 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EPB41Elliptocytosis, type 1Autosomal recessive*General population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
EPB42Spherocytosis, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
EPCAMIntestinal epithelial dysplasia (diarrhea type 5)Autosomal recessiveGeneral population≤1 in 500<1 in 2499<1 in 1,000,000<1 in 1,000,000<1 in 9994<1 in 2000<1 in 99941 in 4
EPG5Vici syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EPM2AEpilepsy, progressive myoclonic, type 2A (Lafora)Autosomal recessiveGeneral population≤1 in 500<1 in 724<1 in 1,000,000<1 in 1,000,000<1 in 2896<1 in 2000<1 in 28961 in 4
EPRS1Leukodystrophy, hypomyelinating, 15Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EPS8L2Deafness autosomal recessive 106Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ERAL1Perrault syndrome 6Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ERBB3Lethal congenital contractural syndrome, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 550<1 in 1,000,000<1 in 1,000,000<1 in 2202<1 in 2000<1 in 22021 in 4
ERCC1Cerebrooculofacioskeletal syndrome, type 4Autosomal recessiveGeneral population≤1 in 500<1 in 1333<1 in 1,000,000<1 in 1,000,000<1 in 5332<1 in 2000<1 in 53321 in 4
ERCC2Trichothiodystrophy, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 154
1 in 243
1 in 49
1 in 54
1 in 222
1 in 1,378
1 in 2187
1 in 441
1 in 486
1 in 1998
1 in 848848
<1 in 1,000,000
1 in 86436
1 in 104976
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 777924
1 in 944784
<1 in 1,000,000
1 in 5512
1 in 8748
1 in 1764
1 in 1944
1 in 7992
1 in 616
1 in 972
1 in 196
1 in 216
1 in 888
1 in 5512
1 in 8748
1 in 1764
1 in 1944
1 in 7992
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ERCC3Trichothiodystrophy, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 436
1 in 363
1 in 486
1 in 958
1 in 533
1 in 1,306
1 in 1089
1 in 1458
1 in 2874
1 in 1599
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5224
1 in 4356
1 in 5832
1 in 11496
1 in 6396
1 in 1744
1 in 1452
1 in 1944
1 in 3832
1 in 2132
1 in 5224
1 in 4356
1 in 5832
1 in 11496
1 in 6396
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ERCC4Fanconi anemia, complementation group QAutosomal recessiveCaucasian/European population1 in 313ReducedReducedReducedReduced1 in 1252Reduced1 in 4
ERCC5Cerebrooculofacioskeletal syndrome, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 970
1 in 909
1 in 703
1 in 279
1 in 878
1 in 96,901
1 in 90900
1 in 70300
1 in 27900
1 in 87800
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 387604
1 in 363600
1 in 281200
1 in 111600
1 in 351200
1 in 3880
1 in 3636
1 in 2812
1 in 1116
1 in 3512
1 in 387604
1 in 363600
1 in 281200
1 in 111600
1 in 351200
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ERCC6Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 335
1 in 214
1 in 241
1 in 431
1 in 419
1 in 3,132
1 in 2006
1 in 2259
1 in 4041
1 in 3928
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 12529
1 in 8025
1 in 9038
1 in 16163
1 in 15713
1 in 1340
1 in 856
1 in 964
1 in 1724
1 in 1676
1 in 12529
1 in 8025
1 in 9038
1 in 16163
1 in 15713
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ERCC6L2Bone marrow failure syndrome 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ERCC8Cockayne syndrome, type AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,080
1 in 1557
1 in 1006
1 in 1387
1 in 218
1 in 2,670
1 in 3852
1 in 2489
1 in 3431
1 in 539
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 470237
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 10680
1 in 15406
1 in 9954
1 in 13724
1 in 2157
1 in 4320
1 in 6228
1 in 4024
1 in 5548
1 in 872
1 in 10680
1 in 15406
1 in 9954
1 in 13724
1 in 2157
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ERLIN1Spastic paraplegia 62Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ERLIN2Spastic paraplegia, type 18, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 786<1 in 1,000,000<1 in 1,000,000<1 in 3144<1 in 2000<1 in 31441 in 4
ESCO2Roberts syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,395
1 in 671
1 in 950
1 in 1378
1 in 3312
1 in 18,820
1 in 9059
1 in 12825
1 in 18603
1 in 44712
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 75280
1 in 36234
1 in 51300
1 in 74412
1 in 178848
1 in 5580
1 in 2684
1 in 3800
1 in 5512
1 in 13248
1 in 75280
1 in 36234
1 in 51300
1 in 74412
1 in 178848
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ESPNDeafness, autosomal recessive, type 36Autosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
ESR1Estrogen resistanceAutosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
ESRRBDeafness, autosomal recessive, type 35Autosomal recessiveGeneral population≤1 in 500<1 in 1125<1 in 1,000,000<1 in 1,000,000<1 in 4500<1 in 2000<1 in 45001 in 4
ETFAGlutaric acidemia, type 2AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 857
1 in 939
1 in 1246
1 in 1099
1 in 3383
1 in 2,284
1 in 2504
1 in 3323
1 in 2931
1 in 9021
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 9135
1 in 10016
1 in 13291
1 in 11723
1 in 36085
1 in 3428
1 in 3756
1 in 4984
1 in 4396
1 in 13532
1 in 9135
1 in 10016
1 in 13291
1 in 11723
1 in 36085
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ETFBGlutaric acidemia, type 2BAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,593
1 in 821
1 in 9195
1 in 1021
1 in 8122
1 in 2,230
1 in 1149
1 in 12873
1 in 1429
1 in 11371
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 8919
1 in 4598
1 in 51492
1 in 5718
1 in 45483
1 in 6372
1 in 3284
1 in 36780
1 in 4084
1 in 32488
1 in 8919
1 in 4598
1 in 51492
1 in 5718
1 in 45483
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ETFDHGlutaric acidemia, type 2CAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 336
1 in 343
1 in 89
1 in 733
1 in 586
1 in 615
1 in 629
1 in 163
1 in 1344
1 in 1074
1 in 826784
1 in 862759
1 in 58087
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 106493
<1 in 1,000,000
<1 in 1,000,000
1 in 2461
1 in 2515
1 in 653
1 in 5375
1 in 4297
1 in 1344
1 in 1372
1 in 356
1 in 2932
1 in 2344
1 in 2461
1 in 2515
1 in 653
1 in 5375
1 in 4297
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ETHE1Ethylmalonic encephalopathyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,279
1 in 1897
N/A
1 in 3848
1 in 934
1 in 4,794
1 in 7114
N/A
1 in 14430
1 in 3503
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 19174
1 in 28455
N/A
1 in 57720
1 in 14010
1 in 5116
1 in 7588
N/A
1 in 15392
1 in 3736
1 in 19174
1 in 28455
N/A
1 in 57720
1 in 14010
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
EVCEllis-van Creveld syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 370
1 in 555
1 in 456
1 in 1486
1 in 1199
1 in 739
1 in 1110
1 in 912
1 in 2972
1 in 2398
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2956
1 in 4440
1 in 3648
1 in 11888
1 in 9592
1 in 1480
1 in 2220
1 in 1824
1 in 5944
1 in 4796
1 in 2956
1 in 4440
1 in 3648
1 in 11888
1 in 9592
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
EVC2Ellis-van Creveld syndromeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 240
N/A
N/A
N/A
N/A
1 in 718
N/A
N/A
N/A
N/A
1 in 689280
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 2872
N/A
N/A
N/A
N/A
1 in 960
N/A
N/A
N/A
N/A
1 in 2872
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
EXOSC2Short stature, hearing loss, retinitis pigmentosa, and distinctive faciesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EXOSC3Pontocerebellar hypoplasia, type 1BAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 139
1 in 287
1 in 336
1 in 213
1 in 507
1 in 300
1 in 622
1 in 728
1 in 462
1 in 1099
1 in 166800
1 in 713865
1 in 978432
1 in 393198
<1 in 1,000,000
1 in 360000
<1 in 1,000,000
<1 in 1,000,000
1 in 851929
<1 in 1,000,000
1 in 1200
1 in 2487
1 in 2912
1 in 1846
1 in 4394
1 in 556
1 in 1148
1 in 1344
1 in 852
1 in 2028
1 in 1200
1 in 2487
1 in 2912
1 in 1846
1 in 4394
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
EXOSC8Pontocerebellar hypoplasia, type 1CAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EXPH5Epidermolysis bullosa, nonspecific, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
EXT1ChondrosarcomaAutosomal recessiveGeneral population≤1 in 500<1 in 616<1 in 1,000,000<1 in 1,000,000<1 in 2464<1 in 2000<1 in 24641 in 4
EXTL3Immunoskeletal dysplasia with neurodevelopmental abnormalitiesAutosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
EYSRetinitis pigmentosa, type 25Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 82
1 in 71
1 in 53
1 in 168
1 in 152
1 in 109
1 in 139
1 in 121
1 in 91
1 in 287
1 in 260
1 in 3633
1 in 45751
1 in 34474
1 in 19210
1 in 193016
1 in 158002
<1 in 1,000,000
1 in 77823
1 in 58939
1 in 32843
1 in 329995
1 in 270132
<1 in 1,000,000
1 in 558
1 in 486
1 in 362
1 in 1149
1 in 1039
1 in 14533
1 in 328
1 in 284
1 in 212
1 in 672
1 in 608
1 in 436
1 in 558
1 in 486
1 in 362
1 in 1149
1 in 1039
1 in 14533
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
F10Factor X deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
F11Factor XI deficiencyAutosomal recessive*General
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 500
1 in 500
1 in 94
1 in 217
1 in 500
1 in 12
N/A
N/A
N/A
N/A
N/A
1 in 230
N/A
N/A
N/A
N/A
N/A
1 in 10580
N/A
N/A
N/A
N/A
N/A
1 in 211600
N/A
N/A
N/A
N/A
N/A
1 in 920
1 in 720
1 in 2000
1 in 376
1 in 868
1 in 2000
1 in 46
N/A
N/A
N/A
N/A
N/A
1 in 920
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
F13A1Factor XIIIA deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 958<1 in 1,000,000<1 in 1,000,000<1 in 3834<1 in 2000<1 in 38341 in 4
F13BFactor XIIIB deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
F2Prothrombin deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 415
N/A
N/A
N/A
N/A
1 in 1,325
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 5300
N/A
N/A
N/A
N/A
1 in 1659
N/A
N/A
N/A
N/A
1 in 5300
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
F5Factor V deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
F7Factor VII deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 653<1 in 1,000,000<1 in 1,000,000<1 in 2610<1 in 2000<1 in 26101 in 4
F8Hemophilia AX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 4,635
N/A
N/A
N/A
N/A
<1 in 16,550
N/A
N/A
N/A
N/A
1 in 66207
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
F9Hemophilia BX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 15,000
1 in 20000
N/A
N/A
1 in 20000
<1 in 29,000
1 in 38289
N/A
N/A
1 in 38289
1 in 114866
1 in 153154
N/A
N/A
1 in 153154
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
FA2HSpastic paraplegia, type 35, autosomal recessiveAutosomal recessiveCaucasian/European population1 in 16691 in 2284<1 in 1,000,000<1 in 1,000,0001 in 91341 in 66761 in 91341 in 4
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FAHTyrosinemia, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 259
1 in 359
N/A
1 in 592
1 in 682
1 in 147
1 in 925
1 in 1285
N/A
1 in 2120
1 in 2442
1 in 4881
1 in 957993
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3699
1 in 5141
N/A
1 in 8478
1 in 9767
1 in 19522
1 in 1036
1 in 1436
N/A
1 in 2368
1 in 2728
1 in 586
1 in 3699
1 in 5141
N/A
1 in 8478
1 in 9767
1 in 19522
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FAM126AHypomyelinating leukodystrophy, type 5Autosomal recessiveCaucasian/European population1 in 8741 in 3057<1 in 1,000,000<1 in 1,000,0001 in 122261 in 34961 in 122261 in 4
FAM161ARetinitis pigmentosa, type 28Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 343
1 in 488
1 in 1450
1 in 716
1 in 1104
1 in 214
1 in 856
1 in 1220
1 in 3625
1 in 1790
1 in 2760
1 in 7133
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3424
1 in 4880
1 in 14500
1 in 7160
1 in 11040
1 in 28533
1 in 1372
1 in 1952
1 in 5800
1 in 2864
1 in 4416
1 in 856
1 in 3424
1 in 4880
1 in 14500
1 in 7160
1 in 11040
1 in 28533
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FAM20AAmelogenesis imperfecta, type 1G (Enamel-renal syndrome)Autosomal recessiveGeneral population≤1 in 500<1 in 2748<1 in 1,000,000<1 in 1,000,000<1 in 10993<1 in 2000<1 in 109931 in 4
FAM20CRaine syndromeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 1,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 4000
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 4000
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FAN1Interstitial nephritis, karyomegalicAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FANCAFanconi anemia, complementation group AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 148
1 in 157
1 in 182
1 in 257
1 in 278
1 in 251
1 in 269
1 in 287
1 in 332
1 in 469
1 in 508
1 in 2510
1 in 159484
1 in 180021
1 in 241917
1 in 482380
1 in 564434
<1 in 1,000,000
1 in 290303
1 in 328690
1 in 441702
1 in 880751
<1 in 1,000,000
<1 in 1,000,000
1 in 1078
1 in 1147
1 in 1329
1 in 1877
1 in 2030
1 in 10040
1 in 592
1 in 628
1 in 728
1 in 1028
1 in 1112
1 in 1004
1 in 1078
1 in 1147
1 in 1329
1 in 1877
1 in 2030
1 in 10040
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FANCBFanconi anemia, complementation group BX-linkedGeneral population≤1 in 500<1 in 562500<1 in 1,000,000 - -1 in 4 - -
FANCCFanconi anemia, complementation group CAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 431
1 in 486
1 in 344
1 in 1025
1 in 1121
1 in 93
1 in 1,514
1 in 1710
1 in 1210
1 in 3606
1 in 3944
1 in 9373
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6056
1 in 6840
1 in 4841
1 in 14426
1 in 15777
1 in 37494
1 in 1724
1 in 1944
1 in 1376
1 in 4100
1 in 4484
1 in 375
1 in 6056
1 in 6840
1 in 4841
1 in 14426
1 in 15777
1 in 37494
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FANCD2Fanconi anemia, complementation group D2Autosomal recessiveCaucasian/European population1 in 1771 in 2501 in 1772361 in 2506671 in 10011 in 7081 in 10011 in 4
FANCEFanconi anemia, complementation group EAutosomal recessiveCaucasian/European population1 in 9161 in 1145<1 in 1,000,000<1 in 1,000,0001 in 45791 in 36641 in 45791 in 4
FANCFFanconi anemia, complementation group FAutosomal recessiveCaucasian/European population1 in 9091 in 1074<1 in 1,000,000<1 in 1,000,0001 in 42961 in 36361 in 42961 in 4
FANCGFanconi anemia, complementation group GAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 563
1 in 494
1 in 336
1 in 1278
1 in 1864
1 in 812
1 in 713
1 in 485
1 in 1844
1 in 2689
<1 in 1,000,000
<1 in 1,000,000
1 in 651465
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 939819
<1 in 1,000,000
<1 in 1,000,000
1 in 3247
1 in 2851
1 in 1939
1 in 7375
1 in 10756
1 in 2252
1 in 1976
1 in 1344
1 in 5112
1 in 7456
1 in 3247
1 in 2851
1 in 1939
1 in 7375
1 in 10756
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FANCIFanconi anemia, complementation group IAutosomal recessiveCaucasian/European population1 in 5571 in 684<1 in 1,000,000<1 in 1,000,0001 in 27361 in 22281 in 27361 in 4
FANCLFanconi anemia, complementation group LAutosomal recessiveCaucasian/European population1 in 1021 in 1301 in 530631 in 676581 in 5201 in 4081 in 5201 in 4
FANCMSpermatogenic failure 28Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FAR1Peroxisomal fatty acyl-CoA reductase 1 disorderAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FARS2Combined oxidative phosphorylation deficiency 14; Spastic paraplegia, type 77, autosomal recessive Autosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
FASTKD2Combined oxidative phosphorylation deficiency 44Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FAT4Hennekam lymphangiectasia-lymphedema syndrome 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FBLN5Cutis laxa, autosomal recessive, type 1AAutosomal recessiveGeneral population≤1 in 500<1 in 1100<1 in 1,000,000<1 in 1,000,000<1 in 4400<1 in 2000<1 in 44001 in 4
FBP1Fructose-1,6-bisphosphatase deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)Autosomal recessiveCaucasian/European population1 in 913ReducedReducedReducedReduced1 in 3652Reduced1 in 4
FBXO7Parkinson disease, type 15, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
FCGR3AImmunodeficiency 20Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FCN3Immunodeficiency due to ficolin 3 deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FDXRAuditory neuropathy and optic atrophyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FECHProtoporphyria, erythropoietic, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 728<1 in 1,000,000<1 in 1,000,000<1 in 2910<1 in 2000<1 in 29101 in 4
FERMT1Kindler syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1444<1 in 1,000,000<1 in 1,000,000<1 in 5776<1 in 2000<1 in 57761 in 4
FERMT3Leukocyte adhesion deficiency, type 3Autosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
FEZF1Hypogonadotropic hypogonadism type 22, with or without anosmiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FGAAfibrinogenemia, congenitalAutosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
FGBCongenital afibrinogenemiaAutosomal recessiveGeneral population≤1 in 500<1 in 1125<1 in 1,000,000<1 in 1,000,000<1 in 4500<1 in 2000<1 in 45001 in 4
FGD1Aarskog-Scott syndrome; Mental retardation, X-linked syndromic, type 16X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500000
N/A
N/A
N/A
N/A
1 in 937,499
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
FGD4Charcot-Marie-Tooth disease, type 4HAutosomal recessiveGeneral population≤1 in 500<1 in 917<1 in 1,000,000<1 in 1,000,000<1 in 3667<1 in 2000<1 in 36671 in 4
FGF16Metacarpal 4-5 fusionX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
FGF23Tumoral calcinosis, hyperphosphatemic, familial, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
FGF3Deafness, congenital with inner ear agenesis, microtia, and microdontiaAutosomal recessiveGeneral population≤1 in 500<1 in 938<1 in 1,000,000<1 in 1,000,000<1 in 3750<1 in 2000<1 in 37501 in 4
FGF5TrichomegalyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FGGAfibrinogenemia, congenital; Hypofibrinogenemia, congenitalAutosomal recessiveGeneral population≤1 in 500<1 in 539<1 in 1,000,000<1 in 1,000,000<1 in 2156<1 in 2000<1 in 21561 in 4
FHFumarase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 252
1 in 561
N/A
1 in 3511
1 in 801
1 in 1,218
1 in 2720
N/A
1 in 17023
1 in 3884
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 4872
1 in 10880
N/A
1 in 68092
1 in 15535
1 in 1008
1 in 2244
N/A
1 in 14044
1 in 3204
1 in 4872
1 in 10880
N/A
1 in 68092
1 in 15535
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FHL1Emery-Dreifuss muscular dystrophy, type 6, X-linkedX-linkedGeneral population1 in 884961 in 1565291 in 626114 - -1 in 4 - -
FIBPThauvin-Robinet-Faivre syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FIG4Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1131<1 in 1,000,000<1 in 1,000,000<1 in 4526<1 in 2000<1 in 45261 in 4
FKBP10Bruck syndrome 1Autosomal recessiveCaucasian/European population1 in 10251 in 2142<1 in 1,000,000<1 in 1,000,0001 in 85681 in 41001 in 85681 in 4
FKBP14Ehlers-Danlos syndrome, kyphoscoliotic type, 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FKRPMuscular dystrophy-dystroglycanopathy, type 5A (Walker-Warburg syndrome); Type 5B; Type 5C (limb-girdle muscular dystrophy, type 9 [LGMDR9])Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 176
1 in 452
1 in 196
1 in 2190
1 in 239
1 in 310
1 in 799
1 in 346
1 in 3869
1 in 422
1 in 218357
<1 in 1,000,000
1 in 271473
<1 in 1,000,000
1 in 403655
1 in 384813
<1 in 1,000,000
1 in 479602
<1 in 1,000,000
1 in 713124
1 in 1241
1 in 3194
1 in 1385
1 in 15476
1 in 1689
1 in 704
1 in 1808
1 in 784
1 in 8760
1 in 956
1 in 1241
1 in 3194
1 in 1385
1 in 15476
1 in 1689
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FKTNMuscular dystrophy-dystroglycanopathy, type 4A (Walker-Warburg syndrome); Type 4B; Type 4C (limb-girdle muscular dystrophy, type 13 [LGMD R13])Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 1,023
1 in 736
1 in 288
1 in 854
1 in 382
1 in 131
1 in 5,841
1 in 4206
1 in 1646
1 in 4880
1 in 2183
1 in 377
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 193489
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 569086
1 in 23364
1 in 16823
1 in 6583
1 in 19520
1 in 8731
1 in 1509
1 in 4092
1 in 2944
1 in 1152
1 in 3416
1 in 1528
1 in 513
1 in 23364
1 in 16823
1 in 6583
1 in 19520
1 in 8731
1 in 1509
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FLAD1Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FLGIchthyosis vulgarisAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FLI1Bleeding disorder, platelet-type, type 21Autosomal recessive*General population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
FLNAFLNA-related disordersX-linkedGeneral population≤1 in 500<1 in 1261905<1 in 1,000,000 - -1 in 4 - -
FLNBSpondylocarpotarsal synostosis syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 2721<1 in 1,000,000<1 in 1,000,000<1 in 10882<1 in 2000<1 in 108821 in 4
FLVCR1Posterior column ataxia-retinitis pigmentosa syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 589<1 in 1,000,000<1 in 1,000,000<1 in 2355<1 in 2000<1 in 23551 in 4
FLVCR2Proliferative vasculopathy and hydranencephaly-hydrocephaly syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
FMN2Mental retardation, autosomal recessive, type 47Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FMO3TrimethylaminuriaAutosomal recessiveGeneral population≤1 in 500<1 in 1416<1 in 1,000,000<1 in 1,000,000<1 in 5665<1 in 2000<1 in 56651 in 4
FMR1Fragile X syndromeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
>1 in 368
1 in 268
<1 in 500
1 in 172
1 in 206
1 in 84
<1 in 37,000
1 in 26800
1 in 222000
1 in 17200
1 in 20600
1 in 8400
1 in 146972
1 in 107200
1 in 888000
1 in 68800
1 in 82400
1 in 33600
-
-
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
-
-
FOLR1Neurodegeneration due to cerebral folate transport deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
FOXE1Bamforth-Lazarus syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FOXE3Anterior segment dysgenesis, type 2, multiple subtypesAutosomal recessiveGeneral population≤1 in 500<1 in 600<1 in 1,000,000<1 in 1,000,000<1 in 2402<1 in 2000<1 in 24021 in 4
FOXI1Deafness, autosomal recessive 4, with enlarged vestibular aqueductAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FOXN1T-cell immunodeficiency, congenital alopecia and nail dystrophyAutosomal recessiveCaucasian/European population1 in 43491 in 4832<1 in 1,000,000<1 in 1,000,0001 in 193281 in 173961 in 193281 in 4
FOXO1Rhabdomyosarcoma 2 (alveolar)Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FOXP3Immunodysregulation, polyendocrinopathy, and enteropathy, X-linkedX-linkedGeneral population≤1 in 500<1 in 714286<1 in 1,000,000 - -1 in 4 - -
FOXRED1Mitochondrial complex I deficiency, nuclear type 19 Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 439
1 in 482
1 in 180
1 in 145
1 in 2646
1 in 822
1 in 904
1 in 338
1 in 272
1 in 4961
<1 in 1,000,000
<1 in 1,000,000
1 in 243000
1 in 157688
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 455625
1 in 295664
<1 in 1,000,000
1 in 3289
1 in 3615
1 in 1350
1 in 1088
1 in 19845
1 in 1756
1 in 1928
1 in 720
1 in 580
1 in 10584
1 in 3289
1 in 3615
1 in 1350
1 in 1088
1 in 19845
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FRAS1Fraser syndrome, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 300
1 in 111
1 in 156
1 in 174
1 in 259
1 in 576
1 in 213
1 in 300
1 in 335
1 in 498
1 in 691200
1 in 94777
1 in 187200
1 in 232892
1 in 516008
<1 in 1,000,000
1 in 182263
1 in 360000
1 in 447870
1 in 992322
1 in 2304
1 in 854
1 in 1200
1 in 1338
1 in 1992
1 in 1200
1 in 444
1 in 624
1 in 696
1 in 1036
1 in 2304
1 in 854
1 in 1200
1 in 1338
1 in 1992
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FREM1Manitoba oculotrichoanal syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 688<1 in 1,000,000<1 in 1,000,000<1 in 2751<1 in 2000<1 in 27511 in 4
FREM2Fraser syndrome, type 2Autosomal recessiveCaucasian/European population1 in 1151 in 1441 in 660101 in 823691 in 5741 in 4601 in 5741 in 4
FRMD7Nystagmus 1, congenital, X-linkedX-linkedGeneral population≤1 in 500<1 in 1062500<1 in 1,000,000 - -1 in 4 - -
FRMPD4Mental retardation, X-linked, type 104X-linkedGeneral population≤1 in 500<1 in 625000<1 in 1,000,000 - -1 in 4 - -
FRRS1LEpileptic encephalopathy, early infantile, 37Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FSHBHypogonadotropic hypogonadism, type 24, without anosmiaAutosomal recessiveGeneral population≤1 in 500<1 in 2499<1 in 1,000,000<1 in 1,000,000<1 in 9994<1 in 2000<1 in 99941 in 4
FSHROvarian dysgenesis 1Autosomal recessiveGeneral population≤1 in 500<1 in 1333<1 in 1,000,000<1 in 1,000,000<1 in 5332<1 in 2000<1 in 53321 in 4
FTCDGlutamate formiminotransferase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 355
N/A
N/A
N/A
N/A
1 in 591
N/A
N/A
N/A
N/A
1 in 839220
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 2364
N/A
N/A
N/A
N/A
1 in 1420
N/A
N/A
N/A
N/A
1 in 2364
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FTLL-ferritin deficiencyAutosomal recessive*General population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
FTOGrowth retardation, developmental delay, facial dysmorphismAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
FTSJ1Mental retardation, X-linked 44X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 45,000
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
FUCA1FucosidosisAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,149
1 in 1233
1 in 2875
1 in 2554
1 in 2032
1 in 4,880
1 in 5240
1 in 12219
1 in 10855
1 in 8636
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 19520
1 in 20961
1 in 48875
1 in 43418
1 in 34544
1 in 4596
1 in 4932
1 in 11500
1 in 10216
1 in 8128
1 in 19520
1 in 20961
1 in 48875
1 in 43418
1 in 34544
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
FUT8Congenital disorder of glycosylation with defective fucosylation, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
FXNFriedreich ataxiaAutosomal recessiveCaucasian/European population1 in 851 in 8401<1 in 1,000,000<1 in 1,000,0001 in 336041 in 3401 in 336041 in 4
FYB1Thrombocytopenia 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
FYCO1Cataract 18, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 857<1 in 1,000,000<1 in 1,000,000<1 in 3429<1 in 2000<1 in 34291 in 4
FZD6Nail disorder, nonsyndromic congenital, type 10 (claw-shaped nails)Autosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
G6PCGlycogen storage disease, type 1AAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 212
1 in 830
1 in 116
1 in 5128
1 in 346
1 in 68
1 in 471
1 in 1852
1 in 259
1 in 11439
1 in 772
1 in 3366
1 in 399154
<1 in 1,000,000
1 in 120069
<1 in 1,000,000
<1 in 1,000,000
1 in 906357
1 in 888101
<1 in 1,000,000
1 in 267846
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1885
1 in 7406
1 in 1035
1 in 45758
1 in 3087
1 in 13464
1 in 847
1 in 3320
1 in 464
1 in 20512
1 in 1384
1 in 269
1 in 1885
1 in 7406
1 in 1035
1 in 45758
1 in 3087
1 in 13464
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
G6PC3Dursun syndromeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 1,170
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 4666
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 4666
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
G6PDHemolytic anemia, G6PD deficient (favism)X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 25
1 in 5
N/A
N/A
1 in 19
<1 in 241
1 in 50
N/A
N/A
1 in 190
1 in 964
1 in 200
N/A
N/A
1 in 760
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
GAAGlycogen storage disease, type 2Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 159
1 in 60
1 in 63
1 in 133
1 in 95
1 in 67
1 in 1,577
1 in 600
1 in 630
1 in 1330
1 in 950
1 in 2193
<1 in 1,000,000
1 in 144000
1 in 158760
1 in 707560
1 in 361000
1 in 577128
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6309
1 in 2400
1 in 2520
1 in 5320
1 in 3800
1 in 8772
1 in 634
1 in 240
1 in 252
1 in 532
1 in 380
1 in 263
1 in 6309
1 in 2400
1 in 2520
1 in 5320
1 in 3800
1 in 8772
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GALCKrabbe diseaseAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 67
1 in 119
1 in 40
1 in 35
1 in 181
1 in 120
1 in 215
1 in 72
1 in 63
1 in 327
1 in 32257
1 in 102441
1 in 11574
1 in 8862
1 in 236994
1 in 57948
1 in 185266
1 in 20933
1 in 16026
1 in 428607
1 in 481
1 in 861
1 in 289
1 in 253
1 in 1309
1 in 268
1 in 476
1 in 160
1 in 140
1 in 724
1 in 481
1 in 861
1 in 289
1 in 253
1 in 1309
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GALEGalactose epimerase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,011
1 in 1217
1 in 369
1 in 2541
1 in 2624
1 in 9,381
1 in 5679
1 in 1722
1 in 11858
1 in 12245
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 37524
1 in 22717
1 in 6888
1 in 47432
1 in 48981
1 in 8044
1 in 4868
1 in 1476
1 in 10164
1 in 10496
1 in 37524
1 in 22717
1 in 6888
1 in 47432
1 in 48981
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GALK1Galactokinase deficiency with cataractsAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 747
1 in 388
1 in 723
1 in 400
1 in 663
1 in 1,091
1 in 567
1 in 1057
1 in 585
1 in 969
<1 in 1,000,000
1 in 880103
<1 in 1,000,000
1 in 935385
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4365
1 in 2268
1 in 4227
1 in 2338
1 in 3876
1 in 2988
1 in 1552
1 in 2892
1 in 1600
1 in 2652
1 in 4365
1 in 2268
1 in 4227
1 in 2338
1 in 3876
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GALNSMucopolysaccharidosis, type 4AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 311
1 in 317
1 in 263
1 in 317
1 in 548
1 in 657
1 in 671
1 in 557
1 in 671
1 in 1160
1 in 817893
1 in 851201
1 in 585902
1 in 851201
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2630
1 in 2685
1 in 2228
1 in 2685
1 in 4642
1 in 1244
1 in 1268
1 in 1052
1 in 1268
1 in 2192
1 in 2630
1 in 2685
1 in 2228
1 in 2685
1 in 4642
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GALNT3Tumoral calcinosis, hyperphosphatemic, familial, type 1Autosomal recessiveGeneral population1 in 5001 in 3744<1 in 1,000,000<1 in 1,000,0001 in 149741 in 20001 in 149741 in 4
GALTGalactosemiaAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 102
1 in 94
1 in 208
1 in 342
1 in 219
1 in 145
1 in 2,021
1 in 1880
1 in 4160
1 in 6840
1 in 4380
1 in 176
1 in 824219
1 in 706880
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 98901
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 123626
1 in 8082
1 in 7520
1 in 16640
1 in 27360
1 in 17520
1 in 703
1 in 408
1 in 376
1 in 832
1 in 1368
1 in 876
1 in 563
1 in 8082
1 in 7520
1 in 16640
1 in 27360
1 in 17520
1 in 703
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GAMTCerebral creatine deficiency syndrome, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 435
1 in 545
1 in 1150
1 in 2601
1 in 4223
1 in 815
1 in 1022
1 in 2156
1 in 4877
1 in 7918
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3259
1 in 4088
1 in 8625
1 in 19508
1 in 31673
1 in 1740
1 in 2180
1 in 4600
1 in 10404
1 in 16892
1 in 3259
1 in 4088
1 in 8625
1 in 19508
1 in 31673
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GANGiant axonal neuropathy, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
GAS8Ciliary dyskinesia, primary, 33Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GATA1Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Thrombocytopenia with beta-thalassemia, X-linked; Thrombocytopenia, X-linked, with or without dyserythropoietic anemiaX-linkedGeneral population≤1 in 500<1 in 964286<1 in 1,000,000 - -1 in 4 - -
GATMCerebral creatine deficiency syndrome, type 3Autosomal recessiveCaucasian/European population1 in 67471 in 13493<1 in 1,000,000<1 in 1,000,0001 in 539721 in 269881 in 539721 in 4
GBAGaucher disease Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 105
1 in 35
1 in 220
N/A
1 in 120
1 in 16
1 in 744
1 in 250
1 in 1571
N/A
1 in 857
1 in 284
1 in 312420
1 in 35000
<1 in 1,000,000
N/A
1 in 411429
1 in 17465
<1 in 1,000,000
1 in 250000
<1 in 1,000,000
N/A
<1 in 1,000,000
1 in 323417
1 in 2975
1 in 1000
1 in 6286
N/A
1 in 3429
1 in 1137
1 in 420
1 in 140
1 in 880
N/A
1 in 480
1 in 61
1 in 2975
1 in 1000
1 in 6286
N/A
1 in 3429
1 in 1137
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GBA2Spastic paraplegia 46, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GBE1Glycogen storage disease, type 4Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 192
1 in 523
1 in 1282
1 in 417
1 in 222
1 in 62
1 in 446
1 in 1219
1 in 2987
1 in 972
1 in 517
1 in 3041
1 in 342584
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 459372
1 in 739644
1 in 795925
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1784
1 in 4875
1 in 11949
1 in 3887
1 in 2069
1 in 12163
1 in 768
1 in 2092
1 in 5128
1 in 1668
1 in 888
1 in 243
1 in 1784
1 in 4875
1 in 11949
1 in 3887
1 in 2069
1 in 12163
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GCDHGlutaricaciduria, type 1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 100
1 in 93
1 in 204
1 in 261
1 in 271
1 in 1,981
1 in 1860
1 in 4080
1 in 5220
1 in 5420
1 in 792400
1 in 691920
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7924
1 in 7440
1 in 16320
1 in 20880
1 in 21680
1 in 400
1 in 372
1 in 816
1 in 1044
1 in 1084
1 in 7924
1 in 7440
1 in 16320
1 in 20880
1 in 21680
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GCH1Hyperphenylalaninemia, BH4-deficient, type BAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 250
N/A
N/A
N/A
N/A
1 in 436
N/A
N/A
N/A
N/A
1 in 436788
N/A
N/A
N/A
N/A
1 in 759324
N/A
N/A
N/A
N/A
1 in 1743
N/A
N/A
N/A
N/A
1 in 1003
N/A
N/A
N/A
N/A
1 in 1743
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GCKPermanent neonatal diabetes mellitus (PNDM)Autosomal recessive*General population≤1 in 500<1 in 1666<1 in 1,000,000<1 in 1,000,000<1 in 6664<1 in 2000<1 in 66641 in 4
GCLCHemolytic anemia due to gamma-glutamylcysteine synthetase deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GCM2Hypoparathyroidism, familial isolated (FIH) 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GCNT2Cataract 13, with adult i phenotypeAutosomal recessiveGeneral population≤1 in 500<1 in 572<1 in 1,000,000<1 in 1,000,000<1 in 2287<1 in 2000<1 in 22871 in 4
GCSH?Glycine encephalopathyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GDAP1Charcot-Marie-Tooth disease, recessive intermediate, type AAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 130
N/A
N/A
N/A
N/A
1 in 298
N/A
N/A
N/A
N/A
1 in 154804
N/A
N/A
N/A
N/A
1 in 354501
N/A
N/A
N/A
N/A
1 in 1191
N/A
N/A
N/A
N/A
1 in 520
N/A
N/A
N/A
N/A
1 in 1191
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GDF1Right atrial isomerism (Ivemark syndrome)Autosomal recessiveGeneral population≤1 in 500<1 in 723<1 in 1,000,000<1 in 1,000,000<1 in 2890<1 in 2000<1 in 28901 in 4
GDF5Chondrodysplasia, Grebe typeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GDF6Leber congenital amaurosis 17Autosomal recessiveGeneral population≤1 in 500<1 in 572<1 in 1,000,000<1 in 1,000,000<1 in 2287<1 in 2000<1 in 22871 in 4
GDI1Mental retardation, X-linked, type 41X-linkedGeneral population1 in 450011 in 1012511 in 405004 - -1 in 4 - -
GEMIN4Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalitiesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GFERMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delayAutosomal recessiveGeneral population≤1 in 500<1 in 715<1 in 1,000,000<1 in 1,000,000<1 in 2858<1 in 2000<1 in 28581 in 4
GFM1Combined oxidative phosphorylation deficiency, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 480
1 in 515
1 in 1113
1 in 769
1 in 1318
1 in 731
1 in 785
1 in 1696
1 in 1172
1 in 2008
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2924
1 in 3139
1 in 6784
1 in 4687
1 in 8034
1 in 1920
1 in 2060
1 in 4452
1 in 3076
1 in 5272
1 in 2924
1 in 3139
1 in 6784
1 in 4687
1 in 8034
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GFPT1Myasthenia, congenital, type 12, with tubular aggregatesAutosomal recessiveCaucasian/European population1 in 1921 in 2431 in 1865731 in 2360661 in 9721 in 7681 in 9721 in 4
GGCXVitamin K-dependent clotting factors, combined deficiency of, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
GGT1GlutathioninuriaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GH1Growth hormone deficiency, isolated, type 1A; Kowarski syndromeAutosomal recessiveGeneral population1 in 2241 in 5971 in 535769<1 in 1,000,0001 in 23871 in 8981 in 23871 in 4
GHRLaron dwarfismAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GHRHRGrowth hormone deficiency, isolated, type 1BAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 50
1 in 50
N/A
N/A
1 in 50
1 in 83
1 in 83
N/A
N/A
1 in 83
1 in 16533
1 in 16667
N/A
N/A
1 in 16667
1 in 27335
1 in 27778
N/A
N/A
1 in 27778
1 in 331
1 in 333
N/A
N/A
1 in 333
1 in 200
1 in 200
N/A
N/A
1 in 200
1 in 331
1 in 333
N/A
N/A
1 in 333
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GHSRGrowth hormone deficiency, isolated partialAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
GINS1Immunodeficiency 55Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GIPC3Deafness, autosomal recessive, type 15Autosomal recessiveGeneral population≤1 in 500<1 in 600<1 in 1,000,000<1 in 1,000,000<1 in 2402<1 in 2000<1 in 24021 in 4
GJA1Craniometaphyseal dysplasia, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1307<1 in 1,000,000<1 in 1,000,000<1 in 5230<1 in 2000<1 in 52301 in 4
GJB1Charcot-Marie-Tooth neuropathy, X-linked dominant, type 1X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 15,161
N/A
N/A
N/A
N/A
1 in 44,254
N/A
N/A
N/A
N/A
1 in 177017
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
GJB2Deafness, autosomal recessive, type 1A; Deafness, digenic, GJB2/GJB6Autosomal recessive; Digenic inheritance (GJB6 gene)Caucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 40
1 in 37
N/A
1 in 58
1 in 100
1 in 21
1 in 489
1 in 463
N/A
1 in 725
1 in 1250
1 in 2100
1 in 78160
1 in 68450
N/A
1 in 168200
1 in 500000
1 in 176400
1 in 954529
1 in 855625
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1954
1 in 1850
N/A
1 in 2900
1 in 5000
1 in 8400
1 in 160
1 in 148
N/A
1 in 232
1 in 400
1 in 84
1 in 1954
1 in 1850
N/A
1 in 2900
1 in 5000
1 in 8400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GJB6Deafness, autosomal recessive, type 1B; Deafness, digenic GJB2/GJB6Autosomal recessive; Digenic inheritance (GJB2 gene)Caucasian/European
African/African American
East Asian
South Asian
Latino
1 in 421
1 in 2161
1 in 214
1 in 1531
1 in 1626
1 in 42,000
1 in 216100
1 in 21400
1 in 153100
1 in 162600
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 168004
1 in 864400
1 in 85600
1 in 612400
1 in 650400
1 in 1684
1 in 8644
1 in 856
1 in 6124
1 in 6504
1 in 168004
1 in 864400
1 in 85600
1 in 612400
1 in 650400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GJC2Spastic paraplegia, type 44, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 682<1 in 1,000,000<1 in 1,000,000<1 in 2729<1 in 2000<1 in 27291 in 4
GKGlycerol kinase deficiencyX-linkedGeneral population≤1 in 500<1 in 1250000<1 in 1,000,000 - -1 in 4 - -
GLAFabry diseaseX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 35,031
1 in 50000
N/A
N/A
1 in 50000
<1 in 217,000
1 in 309593
N/A
N/A
1 in 309593
1 in 867596
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
GLB1GM1-gangliosidosis, types 1-3; Mucopolysaccharidosis, type 4B (Morquio)Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 277
1 in 356
1 in 305
1 in 285
1 in 431
1 in 1,320
1 in 1701
1 in 1457
1 in 1362
1 in 2059
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5279
1 in 6804
1 in 5829
1 in 5447
1 in 8237
1 in 1108
1 in 1424
1 in 1220
1 in 1140
1 in 1724
1 in 5279
1 in 6804
1 in 5829
1 in 5447
1 in 8237
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GLDCGlycine encephalopathyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 255
1 in 515
1 in 137
1 in 570
1 in 323
1 in 509
1 in 1030
1 in 274
1 in 1140
1 in 646
1 in 519180
<1 in 1,000,000
1 in 150152
<1 in 1,000,000
1 in 834632
<1 in 1,000,000
<1 in 1,000,000
1 in 300304
<1 in 1,000,000
<1 in 1,000,000
1 in 2036
1 in 4120
1 in 1096
1 in 4560
1 in 2584
1 in 1020
1 in 2060
1 in 548
1 in 2280
1 in 1292
1 in 2036
1 in 4120
1 in 1096
1 in 4560
1 in 2584
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GLDNLethal congenital contracture syndrome 11Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GLE1Lethal congenital contracture syndrome, type 1; Congenital arthrogryposis with anterior horn cell diseaseAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 453
1 in 1148
1 in 2302
1 in 669
1 in 1201
1 in 582
1 in 1476
1 in 2960
1 in 860
1 in 1544
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2329
1 in 5904
1 in 11839
1 in 3441
1 in 6177
1 in 1812
1 in 4592
1 in 9208
1 in 2676
1 in 4804
1 in 2329
1 in 5904
1 in 11839
1 in 3441
1 in 6177
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GLIS2Nephronophthisis, type 7Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
GLIS3Diabetes mellitus, neonatal, with congenital hypothyroidismAutosomal recessiveGeneral population≤1 in 500<1 in 2499<1 in 1,000,000<1 in 1,000,000<1 in 9994<1 in 2000<1 in 99941 in 4
GLRA1Hyperekplexia, type 1Autosomal recessive*General population≤1 in 500<1 in 1075<1 in 1,000,000<1 in 1,000,000<1 in 4300<1 in 2000<1 in 43001 in 4
GLRBHyperekplexia, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 572<1 in 1,000,000<1 in 1,000,000<1 in 2287<1 in 2000<1 in 22871 in 4
GLRX5Anemia, sideroblastic, type 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemiaAutosomal recessiveGeneral population≤1 in 500<1 in 584<1 in 1,000,000<1 in 1,000,000<1 in 2335<1 in 2000<1 in 23351 in 4
GLULGlutamine deficiency, congenitalAutosomal recessiveGeneral population≤1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
GLYCTKD-glyceric aciduriaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GM2AGM2-gangliosidosis, AB variantAutosomal recessiveGeneral population≤1 in 500<1 in 2249<1 in 1,000,000<1 in 1,000,000<1 in 8995<1 in 2000<1 in 89951 in 4
GMPPAAlacrima, achalasia, and mental retardation syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GMPPBMuscular dystrophy-dystroglycanopathy 14Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GNAT1Night blindness, congenital stationary, type 1GAutosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
GNAT2Achromatopsia, type 4Autosomal recessiveGeneral population≤1 in 500<1 in 600<1 in 1,000,000<1 in 1,000,000<1 in 2402<1 in 2000<1 in 24021 in 4
GNB3Night blindness, congenital stationary, type 1HAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GNB5Intellectual developmental disorder with cardiac arrhythmia; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmiaAutosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
GNEInclusion body myopathy, type 2 (Nonaka myopathy) Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 279
1 in 379
1 in 271
1 in 36
1 in 765
<1 in 500
1 in 1,593
1 in 2171
1 in 1552
1 in 206
1 in 4381
1 in 5470
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 29690
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 170044
<1 in 1,000,000
<1 in 1,000,000
1 in 6373
1 in 8683
1 in 6208
1 in 825
1 in 17525
1 in 21880
1 in 1116
1 in 1516
1 in 1084
1 in 144
1 in 3060
1 in 6564
1 in 6373
1 in 8683
1 in 6208
1 in 825
1 in 17525
1 in 21880
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GNMTGlycine N-methyltransferase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
1 in 24,951
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 99804
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
1 in 99804
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GNPATRhizomelic chondrodysplasia punctata, type 2Autosomal recessiveCaucasian/European population1 in 31361 in 3763<1 in 1,000,000<1 in 1,000,0001 in 150521 in 125441 in 150521 in 4
GNPTABMucolipidosis 2 alpha/beta; Mucolipidosis 3 alpha/betaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 176
1 in 328
1 in 368
1 in 321
1 in 287
1 in 17,522
1 in 32800
1 in 36800
1 in 32100
1 in 28700
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 70090
1 in 131200
1 in 147200
1 in 128400
1 in 114800
1 in 705
1 in 1312
1 in 1472
1 in 1284
1 in 1148
1 in 70090
1 in 131200
1 in 147200
1 in 128400
1 in 114800
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GNPTGMucolipidosis III gammaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 684
1 in 486
1 in 2133
1 in 1398
1 in 735
1 in 2,232
1 in 1588
1 in 6968
1 in 4567
1 in 2401
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 8929
1 in 6350
1 in 27871
1 in 18267
1 in 9604
1 in 2736
1 in 1944
1 in 8532
1 in 5592
1 in 2940
1 in 8929
1 in 6350
1 in 27871
1 in 18267
1 in 9604
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GNRHRHypogonadotropic hypogonadism, type 7, without anosmiaAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
1 in 2,097
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 8387
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
1 in 8387
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GNSMucopolysaccharidosis, type 3D (Sanfilippo syndrome D)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,731
1 in 793
1 in 4588
1 in 4145
1 in 4197
1 in 273,001
1 in 79300
1 in 458800
1 in 414500
1 in 419700
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1092004
1 in 317200
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 10924
1 in 3172
1 in 18352
1 in 16580
1 in 16788
1 in 1092004
1 in 317200
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GORABGeroderma osteodysplasticumAutosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
GOSR2Epilepsy, progressive myoclonic, type 6Autosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
GOT2Epileptic encephalopathy, early infantile, 82Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GP1BABernard-Soulier syndrome, type A1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,677
1 in 2035
1 in 1725
N/A
1 in 4198
1 in 3,074
1 in 3731
1 in 3163
N/A
1 in 7696
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
1 in 12295
1 in 14923
1 in 12650
N/A
1 in 30785
1 in 6708
1 in 8140
1 in 6900
N/A
1 in 16792
1 in 12295
1 in 14923
1 in 12650
N/A
1 in 30785
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GP1BBBernard-Soulier syndrome, type BAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 500
1 in 500
N/A
N/A
1 in 500
1 in 531
1 in 556
N/A
N/A
1 in 556
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
1 in 2125
1 in 2222
N/A
N/A
1 in 2222
1 in 2000
1 in 2000
N/A
N/A
1 in 2000
1 in 2125
1 in 2222
N/A
N/A
1 in 2222
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GP6Bleeding disorder, platelet-type, type 11Autosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
GP9Bernard-Soulier syndrome, type CAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 451
1 in 500
N/A
1 in 848
1 in 500
1 in 1,576
1 in 1750
N/A
1 in 2968
1 in 1750
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 6304
1 in 7000
N/A
1 in 11872
1 in 7000
1 in 1804
1 in 2000
N/A
1 in 3392
1 in 2000
1 in 6304
1 in 7000
N/A
1 in 11872
1 in 7000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GPAA1Glycosylphosphatidylinositol biosynthesis defect 15Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GPC3Simpson-Golabi-Behmel syndrome, type 1X-linkedGeneral population≤1 in 500<1 in 823530<1 in 1,000,000 - -1 in 4 - -
GPC6Omodysplasia, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
GPD1Hypertriglyceridemia, transient infantileAutosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
GPHNMolybdenum cofactor deficiency CAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
GPIHemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 612<1 in 1,000,000<1 in 1,000,000<1 in 2446<1 in 2000<1 in 24461 in 4
GPIHBP1Hyperlipoproteinemia, type 1DAutosomal recessiveGeneral population≤1 in 500<1 in 1666<1 in 1,000,000<1 in 1,000,000<1 in 6664<1 in 2000<1 in 66641 in 4
GPR143Ocular albinism, type 1 (Nettleship-Falls type)X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 42,858
N/A
N/A
N/A
N/A
<1 in 48,000
N/A
N/A
N/A
N/A
1 in 192079
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
GPR179Night blindness, congenital stationary (complete), type 1E, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 945<1 in 1,000,000<1 in 1,000,000<1 in 3778<1 in 2000<1 in 37781 in 4
GPR68Amelogenesis imperfecta, type 2A6 (hypomaturation type)Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
GPSM2Chudley-McCullough syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 900<1 in 1,000,000<1 in 1,000,000<1 in 3600<1 in 2000<1 in 36001 in 4
GPT2Mental retardation, autosomal recessive 49Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GPX1Hemolytic anemia due to glutathione peroxidase deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GPX4Spondylometaphyseal dysplasia, Sedaghatian typeAutosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
GRHL2Ectodermal dysplasia/short stature syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
GRHPRHyperoxaluria, primary, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 433
1 in 605
1 in 681
1 in 327
1 in 1881
1 in 43,201
1 in 60500
1 in 68100
1 in 32700
1 in 188100
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 172804
1 in 242000
1 in 272400
1 in 130800
1 in 752400
1 in 1732
1 in 2420
1 in 2724
1 in 1308
1 in 7524
1 in 172804
1 in 242000
1 in 272400
1 in 130800
1 in 752400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GRIA3Mental retardation, X-linked, type 94X-linkedGeneral population1 in 5000001 in 600000<1 in 1,000,000 - -1 in 4 - -
GRID2Spinocerebellar ataxia, autosomal recessive, type 18Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GRIK2Mental retardation, autosomal recessive, type, 6Autosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
GRIN1Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 728<1 in 1,000,000<1 in 1,000,000<1 in 2910<1 in 2000<1 in 29101 in 4
GRIP1Fraser syndrome 3Autosomal recessiveCaucasian/European population1 in 3331 in 5541 in 738372<1 in 1,000,0001 in 22171 in 13321 in 22171 in 4
GRK1Oguchi disease-2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GRM1Spinocerebellar ataxia, autosomal recessive, type 13Autosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
GRM6Night blindness, congenital stationary (complete), type 1B, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
GRNCeroid lipofuscinosis, neuronal, 11Autosomal recessiveGeneral population≤1 in 500<1 in 967<1 in 1,000,000<1 in 1,000,000<1 in 3867<1 in 2000<1 in 38671 in 4
GRXCR1Deafness, autosomal recessive, type 25Autosomal recessiveGeneral population≤1 in 500<1 in 800<1 in 1,000,000<1 in 1,000,000<1 in 3201<1 in 2000<1 in 32011 in 4
GSCShort stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalitiesAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
GSSGlutathione synthetase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 992
1 in 618
1 in 297
1 in 1703
1 in 49
1 in 2,974
1 in 1854
1 in 891
1 in 5109
1 in 147
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 28812
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 86436
1 in 11896
1 in 7416
1 in 3564
1 in 20436
1 in 588
1 in 3968
1 in 2472
1 in 1188
1 in 6812
1 in 196
1 in 11896
1 in 7416
1 in 3564
1 in 20436
1 in 588
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GTF2E2Trichothiodystrophy 6, nonphotosensitiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GTF2H5Trichothiodystrophy, type 3, photosensitiveAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
GTPBP2Jaberi-Elahi syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GTPBP3Combined oxidative phosphorylation deficiency 23Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GUCY1A1Moyamoya 6 with achalasiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GUCY2CMeconium ileusAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
GUCY2DLeber congenital amaurosis, type 1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 248
N/A
N/A
N/A
N/A
1 in 305
N/A
N/A
N/A
N/A
1 in 302560
N/A
N/A
N/A
N/A
1 in 372100
N/A
N/A
N/A
N/A
1 in 1220
N/A
N/A
N/A
N/A
1 in 992
N/A
N/A
N/A
N/A
1 in 1220
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GUF1?Epileptic encephalopathy, early infantile, 40Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
GUSBMucopolysaccharidosis, type 7Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 552
1 in 685
1 in 1760
1 in 914
1 in 463
1 in 1,6531
1 in 20550
1 in 52800
1 in 27420
1 in 13890
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 66124
1 in 82200
1 in 211200
1 in 109680
1 in 55560
1 in 2208
1 in 2740
1 in 7040
1 in 3656
1 in 1852
1 in 66124
1 in 82200
1 in 211200
1 in 109680
1 in 55560
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
GYG1Polyglucosan body myopathy, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 1100<1 in 1,000,000<1 in 1,000,000<1 in 4400<1 in 2000<1 in 44001 in 4
GYS1Glycogen storage disease, type 0, muscleAutosomal recessiveGeneral population≤1 in 500<1 in 688<1 in 1,000,000<1 in 1,000,000<1 in 2751<1 in 2000<1 in 27511 in 4
GYS2Glycogen storage disease, type 0, liverAutosomal recessiveGeneral population≤1 in 500<1 in 808<1 in 1,000,000<1 in 1,000,000<1 in 3232<1 in 2000<1 in 32321 in 4
GZF1Joint laxity, short stature, and myopiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
H6PDCortisone reductase deficiency 1Autosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
HAAOVertebral, cardiac, renal, and limb defects syndrome 1Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
HACE1Spastic paraplegia and psychomotor retardation with or without seizuresAutosomal recessiveGeneral population≤1 in 500<1 in 1143<1 in 1,000,000<1 in 1,000,000<1 in 4571<1 in 2000<1 in 45711 in 4
HADH3-hydroxyacyl-CoA dehydrogenase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 415
N/A
N/A
N/A
N/A
1 in 622
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 2486
N/A
N/A
N/A
N/A
1 in 1659
N/A
N/A
N/A
N/A
1 in 2486
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HADHALong-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) deficiency; Mitochondrial trifunctional protein deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 251
1 in 482
1 in 1006
1 in 733
1 in 407
1 in 833
1 in 1607
1 in 3353
1 in 2443
1 in 1357
1 in 834339
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3331
1 in 6427
1 in 13413
1 in 9773
1 in 5427
1 in 1002
1 in 1928
1 in 4024
1 in 2932
1 in 1628
1 in 3331
1 in 6427
1 in 13413
1 in 9773
1 in 5427
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HADHBMitochondrial trifunctional protein deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,379
1 in 827
1 in 742
1 in 1033
1 in 1095
1 in 3,008
1 in 1804
1 in 1619
1 in 2254
1 in 2389
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 12030
1 in 7217
1 in 6476
1 in 9015
1 in 9556
1 in 5516
1 in 3308
1 in 2968
1 in 4132
1 in 4380
1 in 12030
1 in 7217
1 in 6476
1 in 9015
1 in 9556
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HAL[Histidinemia]Autosomal recessive*General population1 in 72ReducedReducedReducedReduced1 in 288Reduced1 in 4
HAMPHemochromatosis, type 2BAutosomal recessiveCaucasian/European population1 in 81241 in 10832<1 in 1,000,000<1 in 1,000,0001 in 433271 in 324961 in 433271 in 4
HARS1Usher syndrome, type 3BAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
HAX1Neutropenia, severe congenital, type 3, autosomal recessiveAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 219
1 in 800
1 in 1263
1 in 5130
1 in 2798
1 in 306
1 in 1120
1 in 1768
1 in 7182
1 in 3917
1 in 267195
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 373584
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1222
1 in 4480
1 in 7073
1 in 28728
1 in 15669
1 in 874
1 in 3200
1 in 5052
1 in 20520
1 in 11192
1 in 1222
1 in 4480
1 in 7073
1 in 28728
1 in 15669
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HBA1Thalassemia, alpha-Autosomal recessiveCaucasian/European
African/African American
Asian
Latino
Ashkenazi Jewish
1 in 30
1 in 30
1 in 20
N/A
N/A
1 in 194
1 in 300
1 in 400
N/A
N/A
1 in 23320
1 in 36000
1 in 32000
N/A
N/A
1 in 151062
1 in 360000
1 in 640000
N/A
N/A
1 in 777
1 in 1200
1 in 1600
N/A
N/A
1 in 120
1 in 120
1 in 80
N/A
N/A
1 in 777
1 in 1200
1 in 1600
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HBA2Thalassemia, alpha-Autosomal recessiveCaucasian/European
African/African American
Asian
Latino
1 in 30
1 in 30
1 in 20
N/A
1 in 194
1 in 300
1 in 400
N/A
1 in 23320
1 in 36000
1 in 32000
N/A
1 in 151062
1 in 360000
1 in 640000
N/A
1 in 777
1 in 1200
1 in 1600
N/A
1 in 120
1 in 120
1 in 80
N/A
1 in 777
1 in 1200
1 in 1600
N/A
1 in 4
1 in 4
1 in 4
1 in 4
HBBHBB-related hemoglobinopathyAutosomal recessiveCaucasian/European
African/African American (Sickle cell anemia)
East Asian (b-thalassemia)
South Asian (b-thalassemia)
Latino
Ashkenazi Jewish
1 in 67
1 in 11
1 in 87
1 in 25
1 in 128
Varied
1 in 411
1 in 220
1 in 1020
1 in 500
1 in 1280
N/A
1 in 109711
1 in 9680
1 in 208080
1 in 50000
1 in 655360
N/A
1 in 677055
1 in 193600
<1 in 1,000,000
1 in 1000000
<1 in 1,000,000
N/A
1 in 1646
1 in 880
1 in 4080
1 in 2000
1 in 5120
N/A
1 in 267
1 in 44
1 in 204
1 in 100
1 in 512
N/A
1 in 1646
1 in 880
1 in 4080
1 in 2000
1 in 5120
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HCCSLinear skin defects with multiple congenital anomalies, type 1X-linkedGeneral population≤1 in 500<1 in 750000<1 in 1,000,000 - -1 in 4 - -
HCFC1Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500,000
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
HDAC8Cornelia de Lange syndrome 5X-linkedGeneral population≤1 in 500<1 in 765625<1 in 1,000,000 - -1 in 4 - -
HELLSImmunodeficiency-centromeric instability-facial anomalies syndrome 4Autosomal recessiveCaucasian/European population1 in 240ReducedReducedReducedReduced1 in 960Reduced1 in 4
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts 2AAutosomal recessiveGeneral population≤1 in 500<1 in 591<1 in 1,000,000<1 in 1,000,000<1 in 2365<1 in 2000<1 in 23651 in 4
HERC1Macrocephaly, dysmorphic facies, and psychomotor retardationAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
HERC2Mental retardation, autosomal recessive, type 38Autosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
HES7Spondylocostal dysostosis, type 4, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
HESX1Growth hormone deficiency with pituitary anomaliesAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
HEXATay-Sachs diseaseAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 90
1 in 216
1 in 210
1 in 416
1 in 243
1 in 26
1 in 743
1 in 1800
1 in 1750
1 in 3467
1 in 2025
1 in 519
1 in 267360
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 53920
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2971
1 in 7200
1 in 7000
1 in 13867
1 in 8100
1 in 2077
1 in 360
1 in 864
1 in 840
1 in 1664
1 in 972
1 in 104
1 in 2971
1 in 7200
1 in 7000
1 in 13867
1 in 8100
1 in 2077
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HEXBSandhoff disease, infantile, juvenile, and adult formsAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 202
1 in 895
1 in 385
1 in 513
1 in 248
1 in 743
1 in 3305
1 in 1422
1 in 1894
1 in 916
1 in 600468
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 908367
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2973
1 in 13218
1 in 5686
1 in 7577
1 in 3663
1 in 808
1 in 3580
1 in 1540
1 in 2052
1 in 992
1 in 2973
1 in 13218
1 in 5686
1 in 7577
1 in 3663
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HFEHemochromatosis, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 10
1 in 13
N/A
N/A
1 in 13
1 in 181
1 in 260
N/A
N/A
1 in 260
1 in 7240
1 in 13520
N/A
N/A
1 in 13520
1 in 131044
1 in 270400
N/A
N/A
1 in 270400
1 in 724
1 in 1040
N/A
N/A
1 in 1040
1 in 40
1 in 52
N/A
N/A
1 in 52
1 in 724
1 in 1040
N/A
N/A
1 in 1040
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HFM1Premature ovarian failure 9Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
HGDAlkaptonuriaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 250
N/A
N/A
N/A
N/A
1 in 1,708
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 6834
N/A
N/A
N/A
N/A
1 in 1000
N/A
N/A
N/A
N/A
1 in 6834
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HGFDeafness, autosomal recessive, type 39Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
HGSNATMucopolysaccharidosis type 3C (Sanfilippo syndrome C)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 345
1 in 604
1 in 836
1 in 1483
1 in 922
1 in 809
1 in 1418
1 in 1963
1 in 3482
1 in 2165
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3235
1 in 5672
1 in 7851
1 in 13927
1 in 8659
1 in 1380
1 in 2416
1 in 3344
1 in 5932
1 in 3688
1 in 3235
1 in 5672
1 in 7851
1 in 13927
1 in 8659
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HIBCH3-hydroxyisobutryl-CoA hydrolase deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
HIKESHILeukodystrophy, hypomyelinating, 13Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
HINT1Neuromyotonia and axonal neuropathy, autosomal recessiveAutosomal recessiveCaucasian/European population1 in 766ReducedReducedReducedReduced1 in 3064Reduced1 in 4
HJVHemochromatosis, type 2AAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 1,894
1 in 3456
1 in 2225
1 in 766
1 in 1865
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 7576
1 in 13824
1 in 8900
1 in 3064
1 in 7460
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HK1Charcot-Marie-Tooth disease, type 4GAutosomal recessiveGeneral population≤1 in 500<1 in 800<1 in 1,000,000<1 in 1,000,000<1 in 3201<1 in 2000<1 in 32011 in 4
HLCSHolocarboxylase synthetase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 703
1 in 570
1 in 342
1 in 1099
1 in 706
1 in 2,185
1 in 1773
1 in 1064
1 in 3419
1 in 2196
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 8740
1 in 7093
1 in 4256
1 in 13676
1 in 8786
1 in 2812
1 in 2280
1 in 1368
1 in 4396
1 in 2824
1 in 8740
1 in 7093
1 in 4256
1 in 13676
1 in 8786
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HMGCLHMG-CoA lyase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 875
1 in 964
1 in 2253
1 in 1283
1 in 1123
1 in 2,623
1 in 2892
1 in 6759
1 in 3849
1 in 3369
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 10492
1 in 11568
1 in 27036
1 in 15396
1 in 13476
1 in 3500
1 in 3856
1 in 9012
1 in 5132
1 in 4492
1 in 10492
1 in 11568
1 in 27036
1 in 15396
1 in 13476
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HMGCS2HMG-CoA synthase-2 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 786<1 in 1,000,000<1 in 1,000,000<1 in 3144<1 in 2000<1 in 31441 in 4
HMOX1Heme oxygenase-1 deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HMX1Oculoauricular syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
HNMTMental retardation, autosomal recessive, type 51Autosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
HNRNPH2Mental retardation, X-linked, syndromic, Bain typeX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
HOGA1Hyperoxaluria, primary, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 169
1 in 267
1 in 182
1 in 265
1 in 287
1 in 37
1 in 309
1 in 490
1 in 334
1 in 486
1 in 526
1 in 1233
1 in 208884
1 in 522786
1 in 242909
1 in 514983
1 in 604039
1 in 182533
1 in 381924
1 in 958441
1 in 445334
1 in 944136
<1 in 1,000,000
<1 in 1,000,000
1 in 1236
1 in 1958
1 in 1335
1 in 1943
1 in 2105
1 in 4933
1 in 676
1 in 1068
1 in 728
1 in 1060
1 in 1148
1 in 148
1 in 1236
1 in 1958
1 in 1335
1 in 1943
1 in 2105
1 in 4933
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HOXA1Athabaskan brainstem dysgenesis syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
HOXB1Facial paresis, hereditary congenital, 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
HOXC13Ectodermal dysplasia 9, hair/nail typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
HPCADystonia 2, torsion, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
HPDTyrosinemia, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,453
1 in 5764
1 in 9196
1 in 1026
1 in 4064
1 in 5,518
1 in 12969
1 in 20691
1 in 2309
1 in 9144
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 22072
1 in 51876
1 in 82764
1 in 9234
1 in 36576
1 in 9812
1 in 23056
1 in 36784
1 in 4104
1 in 16256
1 in 22072
1 in 51876
1 in 82764
1 in 9234
1 in 36576
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HPGDHypertrophic osteoarthropathy, primary, type 1 (pachydermoperiostosis)Autosomal recessiveGeneral population≤1 in 500<1 in 3498<1 in 1,000,000<1 in 1,000,000<1 in 13990<1 in 2000<1 in 139901 in 4
HPRT1Lesch-Nyhan syndromeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 145,204
N/A
N/A
N/A
N/A
1 in 382,808
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
HPS1Hermansky-Pudlak syndrome, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 493
1 in 906
1 in 2863
1 in 1539
1 in 999
1 in 1,448
1 in 2665
1 in 8421
1 in 4526
1 in 2938
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5792
1 in 10659
1 in 33682
1 in 18106
1 in 11753
1 in 1972
1 in 3624
1 in 11452
1 in 6156
1 in 3996
1 in 5792
1 in 10659
1 in 33682
1 in 18106
1 in 11753
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HPS3Hermansky-Pudlak syndrome, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 491
1 in 799
1 in 219
1 in 393
1 in 3365
1 in 248
1 in 589
1 in 959
1 in 263
1 in 472
1 in 4038
1 in 24954
<1 in 1,000,000
<1 in 1,000,000
1 in 230213
1 in 741355
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 276255
1 in 889626
<1 in 1,000,000
<1 in 1,000,000
1 in 2356
1 in 3835
1 in 1051
1 in 1886
1 in 16152
1 in 99816
1 in 1964
1 in 3196
1 in 876
1 in 1572
1 in 13460
1 in 998
1 in 2356
1 in 3835
1 in 1051
1 in 1886
1 in 16152
1 in 99816
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HPS4Hermansky-Pudlak syndrome 4Autosomal recessiveCaucasian/European population1 in 7031 in 1756<1 in 1,000,000<1 in 1,000,0001 in 70241 in 28121 in 70241 in 4
HPS5Hermansky-Pudlak syndrome 5Autosomal recessiveCaucasian/European population1 in 891 in 2101 in 747601 in 1764001 in 8401 in 3561 in 8401 in 4
HPS6Hermansky-Pudlak syndrome 6Autosomal recessiveCaucasian/European population1 in 7451 in 1043<1 in 1,000,000<1 in 1,000,0001 in 41701 in 29801 in 41701 in 4
HPSE2Urofacial syndrome, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 2499<1 in 1,000,000<1 in 1,000,000<1 in 9994<1 in 2000<1 in 99941 in 4
HRAlopecia universalis; Atrichia with papular lesionsAutosomal recessiveGeneral population≤1 in 500<1 in 1333<1 in 1,000,000<1 in 1,000,000<1 in 5332<1 in 2000<1 in 53321 in 4
HSD11B2Apparent mineralocorticoid excessAutosomal recessiveGeneral population≤1 in 500<1 in 1375<1 in 1,000,000<1 in 1,000,000<1 in 5499<1 in 2000<1 in 54991 in 4
HSD17B10HSD10 mitochondrial diseaseX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500,000
N/A
N/A
N/A
N/A
1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
HSD17B346,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 2,750
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 10993
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 10993
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HSD17B4D-bifunctional protein deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 534
1 in 375
1 in 516
1 in 1282
1 in 1123
1 in 11,727
1 in 8250
1 in 11352
1 in 28204
1 in 24706
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 46908
1 in 33000
1 in 45408
1 in 112816
1 in 98824
1 in 2136
1 in 1500
1 in 2064
1 in 5128
1 in 4492
1 in 46908
1 in 33000
1 in 45408
1 in 112816
1 in 98824
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HSD3B2Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 862
1 in 2853
1 in 2258
1 in 1183
1 in 1151
1 in 1,831
1 in 6063
1 in 4798
1 in 2514
1 in 2446
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7323
1 in 24251
1 in 19193
1 in 10056
1 in 9784
1 in 3448
1 in 11412
1 in 9032
1 in 4732
1 in 4604
1 in 7323
1 in 24251
1 in 19193
1 in 10056
1 in 9784
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HSD3B7Bile acid synthesis defect, congenital, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 1375<1 in 1,000,000<1 in 1,000,000<1 in 5499<1 in 2000<1 in 54991 in 4
HSPA9Even-plus syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 700<1 in 1,000,000<1 in 1,000,000<1 in 2801<1 in 2000<1 in 28011 in 4
HSPD1Leukodystrophy, hypomyelinating, type 4Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
HSPG2Dyssegmental dysplasia, Silverman-Handmaker typeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 1,625
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 6498
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 6498
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HTRA1CARASIL syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 893<1 in 1,000,000<1 in 1,000,000<1 in 3572<1 in 2000<1 in 35721 in 4
HTRA23-methylglutaconic aciduria, type 8Autosomal recessiveGeneral population≤1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
HTTLopes-Maciel-Rodan syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
HUWE1Mental retardation, X-linked syndromic, Turner typeX-linkedGeneral population1 in 500001 in 538461 in 215384 - -1 in 4 - -
HYAL1?Mucopolysaccharidosis, type 9Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,811
1 in 1708
1 in 2296
1 in 1691
1 in 2692
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 11244
1 in 6832
1 in 9184
1 in 6764
1 in 10768
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HYDINCiliary dyskinesia, primary, 5Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
HYLS1Hydrolethalus syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 522
1 in 1092
1 in 2959
1 in 2199
1 in 885
1 in 587
1 in 1229
1 in 3329
1 in 2474
1 in 996
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2349
1 in 4914
1 in 13316
1 in 9896
1 in 3983
1 in 2088
1 in 4368
1 in 11836
1 in 8796
1 in 3540
1 in 2349
1 in 4914
1 in 13316
1 in 9896
1 in 3983
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
HYOU1?Immunodeficiency 59 and hypoglycemiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IARS1Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IBA57Multiple mitochondrial dysfunctions syndrome 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ICOSImmunodeficiency, common variable, 1Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IDH3BRetinitis pigmentosa, type 46Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
1 in 999
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 3996
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
1 in 3996
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
IDSMucopolysaccharidosis, type 2X-linkedCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 38,000
1 in 100000
1 in 24000
N/A
1 in 100000
1 in 90,827
1 in 239022
1 in 57365
N/A
1 in 239022
1 in 363307
1 in 956087
1 in 229461
N/A
1 in 956087
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
IDUAMucopolysaccharidosis type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 153
1 in 376
1 in 236
1 in 114
1 in 416
1 in 340
1 in 838
1 in 526
1 in 254
1 in 927
1 in 207844
<1 in 1,000,000
1 in 496301
1 in 115806
<1 in 1,000,000
1 in 461350
<1 in 1,000,000
<1 in 1,000,000
1 in 257984
<1 in 1,000,000
1 in 1358
1 in 3350
1 in 2103
1 in 1016
1 in 3707
1 in 612
1 in 1504
1 in 944
1 in 456
1 in 1664
1 in 1358
1 in 3350
1 in 2103
1 in 1016
1 in 3707
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
IER3IP1Microcephaly, epilepsy, and diabetes syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
IFNGR1Immunodeficiency, type 27A, mycobacteriosisAutosomal recessiveGeneral population≤1 in 500<1 in 2249<1 in 1,000,000<1 in 1,000,000<1 in 8995<1 in 2000<1 in 89951 in 4
IFNGR2Immunodeficiency, type 28, mycobacteriosisAutosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
IFT122Cranioectodermal dysplasia 1Autosomal recessiveGeneral population≤1 in 500<1 in 1749<1 in 1,000,000<1 in 1,000,000<1 in 6997<1 in 2000<1 in 69971 in 4
IFT140Retinitis pigmentosa, type 80; Short-rib thoracic dysplasia 9 with or without polydactylyAutosomal recessiveCaucasian/European population1 in 3811 in 5331 in 812292<1 in 1,000,0001 in 21321 in 15241 in 21321 in 4
IFT172Short-rib thoracic dysplasia 10 with or without polydactylyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IFT43Short-rib thoracic dysplasia 18 with polydactylyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IFT52Short-rib thoracic dysplasia 16 with or without polydactylyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IFT80Short-rib thoracic dysplasia, type 2, with or without polydactylyAutosomal recessiveGeneral population≤1 in 500<1 in 917<1 in 1,000,000<1 in 1,000,000<1 in 3667<1 in 2000<1 in 36671 in 4
IFT81Short-rib thoracic dysplasia 19 with or without polydactylyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IGBP1Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathiaX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
IGF1Growth retardation with deafness and mental retardation due to IGF1 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
IGF1RInsulin-like growth factor I, resistance toAutosomal recessive*General population≤1 in 500<1 in 569<1 in 1,000,000<1 in 1,000,000<1 in 2274<1 in 2000<1 in 22741 in 4
IGFALSAcid-labile subunit deficiency Autosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
IGFBP7Retinal arterial macroaneurysm with supravalvular pulmonic stenosisAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IGHMAgammaglobulinemia 1Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IGHMBP2Charcot-Marie-Tooth disease, axonal, type 2SAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 4,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 15988
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 15988
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
IGKCKappa light chain deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IGLL1Agammaglobulinemia 2Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
IGSF1Hypothyroidism, central, and testicular enlargementX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
IHHAcrocapitofemoral dysplasiaAutosomal recessiveGeneral population≤1 in 500<1 in 2998<1 in 1,000,000<1 in 1,000,000<1 in 11992<1 in 2000<1 in 119921 in 4
IKBKBImmunodeficiency 15Autosomal recessiveCaucasian/European population1 in 324ReducedReducedReducedReduced1 in 1296Reduced1 in 4
IKBKGImmunodeficiency, type 33X-linkedGeneral population≤1 in 500<1 in 510870<1 in 1,000,000 - -1 in 4 - -
IL10RAInflammatory bowel disease, type 28, early onset, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 700<1 in 1,000,000<1 in 1,000,000<1 in 2801<1 in 2000<1 in 28011 in 4
IL10RBInflammatory bowel disease, type 25, early onset, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 700<1 in 1,000,000<1 in 1,000,000<1 in 2801<1 in 2000<1 in 28011 in 4
IL11RACraniosynostosis and dental anomaliesAutosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
IL12BImmunodeficiency, type 29, mycobacteriosisAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
IL12RB1Immunodeficiency, type 30Autosomal recessiveGeneral population≤1 in 500<1 in 657<1 in 1,000,000<1 in 1,000,000<1 in 2626<1 in 2000<1 in 26261 in 4
IL17RAImmunodeficiency, type 51Autosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
IL17RCCandidiasis, familial, 9Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IL1RAPL1Mental retardation, X-linked, type 21/34X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 45,000
N/A
N/A
N/A
N/A
1 in 90,000
N/A
N/A
N/A
N/A
1 in 359996
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
IL1RNSterile multifocal osteomyelitis with periostitis and pustulosisAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
IL21RImmunodeficiency, type 56Autosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
IL2RAImmunodeficiency, type 41 with lymphoproliferation and autoimmunityAutosomal recessiveCaucasian/European population1 in 113271 in 22653<1 in 1,000,000<1 in 1,000,0001 in 906121 in 453081 in 906121 in 4
IL2RGSevere combined immunodeficiency, X-linkedX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 33,334
N/A
N/A
N/A
N/A
<1 in 84,000
N/A
N/A
N/A
N/A
1 in 334228
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
IL36RNPsoriasis, type 14, pustularAutosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
IL7RSevere combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive typeAutosomal recessiveCaucasian/European population1 in 5221 in 783<1 in 1,000,000<1 in 1,000,0001 in 31301 in 20881 in 31301 in 4
ILDR1Deafness, autosomal recessive, type 42Autosomal recessiveGeneral population≤1 in 500<1 in 900<1 in 1,000,000<1 in 1,000,000<1 in 3600<1 in 2000<1 in 36001 in 4
IMPA1Mental retardation, autosomal recessive 59Autosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
IMPG2Retinitis pigmentosa, type 56Autosomal recessiveGeneral population≤1 in 500<1 in 800<1 in 1,000,000<1 in 1,000,000<1 in 3201<1 in 2000<1 in 32011 in 4
INPP5EJoubert syndrome, type 1Autosomal recessiveCaucasian/European population1 in 1561 in 4011 in 2504841 in 6445411 in 16061 in 6241 in 16061 in 4
INPP5KMuscular dystrophy, congenital, with cataracts and intellectual disabilityAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
INPPL1OpsismodysplasiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
INSPermanent neonatal diabetes mellitus (PNDM)Autosomal recessive*General population≤1 in 500<1 in 2061<1 in 1,000,000<1 in 1,000,000<1 in 8246<1 in 2000<1 in 82461 in 4
INSRDiabetes mellitus, insulin-resistant, with acanthosis nigricans, type AAutosomal recessiveGeneral population≤1 in 500<1 in 1576<1 in 1,000,000<1 in 1,000,000<1 in 6305<1 in 2000<1 in 63051 in 4
INTS1Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic faciesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
INVSNephronophthisis, type 2, infantileAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
IQCB1Senior-Loken syndrome, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 2499<1 in 1,000,000<1 in 1,000,000<1 in 9994<1 in 2000<1 in 99941 in 4
IQCEPolydactyly, postaxial, type A7Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
IQSEC2Mental retardation, X-linked, type 1/78X-linkedGeneral population1 in 450001 in 573281 in 229314 - -1 in 4 - -
IRAK4IRAK4 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 778<1 in 1,000,000<1 in 1,000,000<1 in 3112<1 in 2000<1 in 31121 in 4
IRF8Immunodeficiency, type 32B, monocyte and dendritic cell deficiency, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
IRS4Hypothyroidism, congenital, nongoitrous, 9X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
IRX5Hamamy syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
ISCA1Multiple mitochondrial dysfunctions syndrome 5Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ISCA2Multiple mitochondrial dysfunctions syndrome 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ISCUMyopathy with lactic acidosis, hereditaryAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
ISG15Immunodeficiency 38Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ITCHAutoimmune disease, multisystem, with facial dysmorphismAutosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
ITGA2BGlanzmann thrombastheniaAutosomal recessiveGeneral population≤1 in 500<1 in 573<1 in 1,000,000<1 in 1,000,000<1 in 2292<1 in 2000<1 in 22921 in 4
ITGA3Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenitalAutosomal recessiveGeneral population≤1 in 500<1 in 700<1 in 1,000,000<1 in 1,000,000<1 in 2801<1 in 2000<1 in 28011 in 4
ITGA6Epidermolysis bullosa, junctional, with pyloric stenosisAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
ITGA7Muscular dystrophy, congenital, due to ITGA7 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 792<1 in 1,000,000<1 in 1,000,000<1 in 3168<1 in 2000<1 in 31681 in 4
ITGA8Renal hypodysplasia/aplasia 1Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ITGB2Leukocyte adhesion deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1392<1 in 1,000,000<1 in 1,000,000<1 in 5570<1 in 2000<1 in 55701 in 4
ITGB3Glanzmann thrombastheniaAutosomal recessiveGeneral population≤1 in 500<1 in 706<1 in 1,000,000<1 in 1,000,000<1 in 2825<1 in 2000<1 in 28251 in 4
ITGB4Epidermolysis bullosa, junctional, with pyloric atresiaAutosomal recessiveGeneral population≤1 in 500<1 in 3831<1 in 1,000,000<1 in 1,000,000<1 in 15322<1 in 2000<1 in 153221 in 4
ITGB6Amelogenesis imperfecta, type 1HAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ITKLymphoproliferative syndrome 1Autosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
ITPAEpileptic encephalopathy, early infantile, type 35Autosomal recessiveCaucasian/European population1 in 20931 in 2616<1 in 1,000,000<1 in 1,000,0001 in 104641 in 83721 in 104641 in 4
ITPR1Gillespie syndromeAutosomal recessive*General population≤1 in 500<1 in 825<1 in 1,000,000<1 in 1,000,000<1 in 3301<1 in 2000<1 in 33011 in 4
IVDIsovaleric acidemiaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 115
1 in 100
1 in 901
1 in 733
1 in 532
1 in 1,749
1 in 1533
1 in 13815
1 in 11239
1 in 8157
1 in 804540
1 in 613333
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6996
1 in 6133
1 in 55261
1 in 44957
1 in 32629
1 in 460
1 in 400
1 in 3604
1 in 2932
1 in 2128
1 in 6996
1 in 6133
1 in 55261
1 in 44957
1 in 32629
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
IYDThyroid dyshormonogenesis, type 4Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 159
N/A
N/A
N/A
N/A
1 in 633
N/A
N/A
N/A
N/A
1 in 402588
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 2532
N/A
N/A
N/A
N/A
1 in 636
N/A
N/A
N/A
N/A
1 in 2532
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
JAGN1Neutropenia, severe congenital, 6, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
JAK3Severe Combined Immunodeficiency, autosomal recessive, T-negative/B-positive typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 475
1 in 174
1 in 1661
1 in 686
1 in 803
1 in 732
1 in 268
1 in 2561
1 in 1058
1 in 1238
<1 in 1,000,000
1 in 186702
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 287832
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2927
1 in 1073
1 in 10243
1 in 4230
1 in 4952
1 in 1900
1 in 696
1 in 6644
1 in 2744
1 in 3212
1 in 2927
1 in 1073
1 in 10243
1 in 4230
1 in 4952
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
JAM3Hemorrhagic destruction of the brain, subependymal calcification, and cataractsAutosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
JUPNaxos diseaseAutosomal recessiveGeneral population≤1 in 500<1 in 857<1 in 1,000,000<1 in 1,000,000<1 in 3429<1 in 2000<1 in 34291 in 4
KANK2Nephrotic syndrome, type 16Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KARS1Deafness, autosomal recessive, type 89Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
KATNB1Lissencephaly 6, with microcephalyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KATNIPJoubert syndrome 26Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KCNE1Jervell and Lange-Nielsen syndrome 2Autosomal recessiveGeneral population≤1 in 500<1 in 591<1 in 1,000,000<1 in 1,000,000<1 in 2365<1 in 2000<1 in 23651 in 4
KCNJ1Bartter syndrome, type 2Autosomal recessiveCaucasian/European population1 in 11671 in 3110<1 in 1,000,000<1 in 1,000,0001 in 124411 in 46681 in 124411 in 4
KCNJ10SESAME syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 938<1 in 1,000,000<1 in 1,000,000<1 in 3750<1 in 2000<1 in 37501 in 4
KCNJ11Hyperinsulinemic hypoglycemia, type 2 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)Autosomal recessive; Autosomal recessive*Caucasian/European
African/African American
East Asian
South Asian
Latino
1 in 232
1 in 2899
1 in 420
1 in 1924
1 in 773
1 in 478
1 in 5985
1 in 867
1 in 3972
1 in 1596
1 in 443494
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 913566
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1912
1 in 23940
1 in 3468
1 in 15889
1 in 6383
1 in 928
1 in 11596
1 in 1680
1 in 7696
1 in 3092
1 in 1912
1 in 23940
1 in 3468
1 in 15889
1 in 6383
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
KCNJ13Leber congenital amaurosis, type 16Autosomal recessiveGeneral population≤1 in 500<1 in 643<1 in 1,000,000<1 in 1,000,000<1 in 2573<1 in 2000<1 in 25731 in 4
KCNV2Retinal cone dystrophy, type 3BAutosomal recessiveGeneral population≤1 in 500<1 in 720<1 in 1,000,000<1 in 1,000,000<1 in 2881<1 in 2000<1 in 28811 in 4
KCTD7Epilepsy, progressive myoclonic, type 3, with or without intracellular inclusionsAutosomal recessiveCaucasian/European population1 in 10831 in 1840<1 in 1,000,000<1 in 1,000,0001 in 73621 in 43321 in 73621 in 4
KDM5CMental retardation, X-linked, syndromic, Claes-Jensen typeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500,000
N/A
N/A
N/A
N/A
1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
KDM6AKabuki syndrome, type 2X-linkedGeneral population≤1 in 500<1 in 800000<1 in 1,000,000 - -1 in 4 - -
KDSRErythrokeratodermia variabilis et progressiva 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KERACornea plana 2, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
KHDC3LHydatidiform mole, recurrent, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
KIAA0586Short-rib thoracic dysplasia 14 with polydactylyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KIAA0753?Orofaciodigital syndrome, type 15Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KIAA1109Alkuraya-Kucinskas syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KIAA1549Retinitis pigmentosa, type 86Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KIF14Microcephaly 20, primary, autosomal recessiveAutosomal recessiveCaucasian/European population1 in 1010ReducedReducedReducedReduced1 in 4040Reduced1 in 4
KIF1ANeuropathy, hereditary sensory, type 2C; Spastic paraplegia, type 30, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 849<1 in 1,000,000<1 in 1,000,000<1 in 3396<1 in 2000<1 in 33961 in 4
KIF1CSpastic ataxia 2, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KIF7Acrocallosal syndrome; Joubert syndrome, type 12Autosomal recessiveGeneral population≤1 in 500<1 in 2332<1 in 1,000,000<1 in 1,000,000<1 in 9328<1 in 2000<1 in 93281 in 4
KIFBPGoldberg-Shprintzen megacolon syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
KISS1RHypogonadotropic hypogonadism, type 8, with or without anosmiaAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
KIZRetinitis pigmentosa 69Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KLC2Spastic paraplegia, optic atrophy, and neuropathyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KLHL15Mental retardation, X-linked 103X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
KLHL3Pseudohypoaldosteronism, type 2DAutosomal recessiveGeneral population≤1 in 500<1 in 3997<1 in 1,000,000<1 in 1,000,000<1 in 15988<1 in 2000<1 in 159881 in 4
KLHL40Nemaline myopathy 8, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KLHL41Nemaline myopathy 9Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KLHL7Cold-induced sweating syndrome 3Autosomal recessiveGeneral population≤1 in 500<1 in 900<1 in 1,000,000<1 in 1,000,000<1 in 3600<1 in 2000<1 in 36001 in 4
KLK4Amelogenesis imperfecta, type 2A1 (hypomaturation type)Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
KLKB1Fletcher factor (prekallikrein) deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
KNL1Microcephaly 4, primary, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 546<1 in 1,000,000<1 in 1,000,000<1 in 2184<1 in 2000<1 in 21841 in 4
KPTNMental retardation, autosomal recessive 41Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KREMEN1Ectodermal dysplasia 13, hair/tooth typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KRT10Epidermolytic hyperkeratosisAutosomal recessive*General population≤1 in 500<1 in 2099<1 in 1,000,000<1 in 1,000,000<1 in 8396<1 in 2000<1 in 83961 in 4
KRT14Epidermolysis bullosa simplex, autosomal recessive, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
KRT18Cirrhosis, cryptogenicAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KRT25Woolly hair, autosomal recessive 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KRT5Epidermolysis bullosa simplex, autosomal recessive, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 771<1 in 1,000,000<1 in 1,000,000<1 in 3084<1 in 2000<1 in 30841 in 4
KRT8Cirrhosis, cryptogenicAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KRT83Erythrokeratodermia variabilis et progressiva 5Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KRT85Ectodermal dysplasia 4, hair/nail typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KYMyopathy, myofibrillar, 7Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
KYNUVertebral, cardiac, renal, and limb defects syndrome, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
L1CAML1 SyndromeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 15,000
N/A
N/A
N/A
N/A
<1 in 49,000
N/A
N/A
N/A
N/A
1 in 196259
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
L2HGDHL-2-hydroxyglutaric aciduriaAutosomal recessiveGeneral population≤1 in 500<1 in 2124<1 in 1,000,000<1 in 1,000,000<1 in 8496<1 in 2000<1 in 84961 in 4
LAGE3Galloway-Mowat syndrome 2, X-linkedX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
LAMA1Poretti-Boltshauser syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1178<1 in 1,000,000<1 in 1,000,000<1 in 4714<1 in 2000<1 in 47141 in 4
LAMA2LAMA2-related muscular dystrophyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 125
1 in 159
<1 in 610
1 in 306
1 in 114
1 in 656
1 in 840
1 in 3224
1 in 1617
1 in 603
1 in 328214
1 in 534513
<1 in 1,000,000
<1 in 1,000,000
1 in 274773
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2626
1 in 3362
1 in 12897
1 in 6470
1 in 2410
1 in 500
1 in 636
1 in 2440
1 in 1224
1 in 456
1 in 2626
1 in 3362
1 in 12897
1 in 6470
1 in 2410
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LAMA3Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 606
1 in 782
1 in 495
1 in 810
1 in 1416
1 in 60,501
1 in 78200
1 in 49500
1 in 81000
1 in 141600
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 242004
1 in 312800
1 in 198000
1 in 324000
1 in 566400
1 in 2424
1 in 3128
1 in 1980
1 in 3240
1 in 5664
1 in 242004
1 in 312800
1 in 198000
1 in 324000
1 in 566400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LAMB1Lissencephaly, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
LAMB2Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalitiesAutosomal recessiveGeneral population<1 in 500<1 in 1200<1 in 1,000,000<1 in 1,000,000<1 in 4799<1 in 2000<1 in 47991 in 4
LAMB3Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 222
1 in 268
1 in 877
1 in 629
1 in 1122
1 in 22,101
1 in 26800
1 in 87700
1 in 62900
1 in 112200
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 88404
1 in 107200
1 in 350800
1 in 251600
1 in 448800
1 in 888
1 in 1072
1 in 3508
1 in 2516
1 in 4488
1 in 88404
1 in 107200
1 in 350800
1 in 251600
1 in 448800
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LAMC2Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 772
1 in 823
1 in 285
1 in 1707
1 in 4197
1 in 5,949
1 in 6349
1 in 2199
1 in 13168
1 in 32377
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 23795
1 in 25395
1 in 8794
1 in 52673
1 in 129507
1 in 3088
1 in 3292
1 in 1140
1 in 6828
1 in 16788
1 in 23795
1 in 25395
1 in 8794
1 in 52673
1 in 129507
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LAMC3Cortical malformations, occipitalAutosomal recessiveGeneral population≤1 in 500<1 in 643<1 in 1,000,000<1 in 1,000,000<1 in 2573<1 in 2000<1 in 25731 in 4
LAMP2Danon diseaseX-linkedGeneral population≤1 in 500<1 in 1649999<1 in 1,000,000 - -1 in 4 - -
LAMTOR2Immunodeficiency due to defect in MAPBP-interacting proteinAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LARGE1Muscular dystrophy-dystroglycanopathy, type 6A and 6BAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 123
N/A
N/A
N/A
N/A
1 in 287
N/A
N/A
N/A
N/A
1 in 141663
N/A
N/A
N/A
N/A
1 in 329017
N/A
N/A
N/A
N/A
1 in 1147
N/A
N/A
N/A
N/A
1 in 494
N/A
N/A
N/A
N/A
1 in 1147
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LARP7Alazami syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LARS1?Infantile liver failure syndrome 1Autosomal recessiveCaucasian/European population1 in 1000ReducedReducedReducedReduced1 in 4000Reduced1 in 4
LARS2Perrault syndrome, type 4Autosomal recessiveGeneral population≤1 in 500<1 in 700<1 in 1,000,000<1 in 1,000,000<1 in 2801<1 in 2000<1 in 28011 in 4
LAS1LWilson-Turner syndromeX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
LATImmunodeficiency 52Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LBRGreenberg skeletal dysplasiaAutosomal recessiveGeneral population≤1 in 500<1 in 850<1 in 1,000,000<1 in 1,000,000<1 in 3401<1 in 2000<1 in 34011 in 4
LCA5Leber congenital amaurosis, type 5Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,811
1 in 1862
1 in 1310
1 in 1899
1 in 8124
1 in 2,237
1 in 2300
1 in 1618
1 in 2346
1 in 10036
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 8948
1 in 9200
1 in 6473
1 in 9383
1 in 40142
1 in 7244
1 in 7448
1 in 5240
1 in 7596
1 in 32496
1 in 8948
1 in 9200
1 in 6473
1 in 9383
1 in 40142
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LCATFamilial LCAT deficiency; Fish-eye diseaseAutosomal recessiveGeneral population≤1 in 500<1 in 1357<1 in 1,000,000<1 in 1,000,000<1 in 5427<1 in 2000<1 in 54271 in 4
LCK?Immunodeficiency 22Autosomal recessiveCaucasian/European population1 in 3606ReducedReducedReducedReduced1 in 14424Reduced1 in 4
LCTLactase deficiency, congenitalAutosomal recessiveGeneral population≤1 in 500<1 in 1666<1 in 1,000,000<1 in 1,000,000<1 in 6664<1 in 2000<1 in 66641 in 4
LDHAGlycogen storage disease type 11Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
LDLRAP1Hypercholesterolemia, familial, autosomal recessiveAutosomal recessiveCaucasian/European population1 in 27211 in 3710<1 in 1,000,000<1 in 1,000,0001 in 148401 in 108841 in 148401 in 4
LEMD2Cataract 46, juvenile-onsetAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LEPObesity, morbid, due to leptin deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
LEPRObesity, morbid, due to leptin receptor deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
LGI4Arthrogryposis multiplex congenita, neurogenic, with myelin defectAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LHBHypogonadotropic hypogonadism, type 23, with or without anosmiaAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
LHCGRLeydig cell hypoplasiaAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 1,060
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 4250
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 4250
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LHFPL5Deafness, autosomal recessive type 67Autosomal recessiveGeneral population≤1 in 500<1 in 1333<1 in 1,000,000<1 in 1,000,000<1 in 5332<1 in 2000<1 in 53321 in 4
LHX3Pituitary hormone deficiency, combined, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,398
N/A
1 in 1210
N/A
N/A
1 in 9,780
N/A
1 in 8470
N/A
N/A
<1 in 1,000,000
N/A
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
N/A
<1 in 1,000,000
N/A
N/A
1 in 39120
N/A
1 in 33880
N/A
N/A
1 in 5592
N/A
1 in 4840
N/A
N/A
1 in 39120
N/A
1 in 33880
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LIASHyperglycinemia, lactic acidosis, and seizuresAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
LIFRStuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 848
1 in 1444
1 in 1719
1 in 512
1 in 1670
1 in 2,881
1 in 4910
1 in 5845
1 in 1741
1 in 5678
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 11523
1 in 19638
1 in 23378
1 in 6963
1 in 22712
1 in 3392
1 in 5776
1 in 6876
1 in 2048
1 in 6680
1 in 11523
1 in 19638
1 in 23378
1 in 6963
1 in 22712
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LIG4LIG4 syndromeAutosomal recessiveCaucasian/European population1 in 5801 in 1114<1 in 1,000,000<1 in 1,000,0001 in 44581 in 23201 in 44581 in 4
LIM2Cataract 19, multiple typesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LIMS2?Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongueAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LINS1Mental retardation, autosomal recessive, type 27Autosomal recessiveGeneral population≤1 in 500<1 in 857<1 in 1,000,000<1 in 1,000,000<1 in 3429<1 in 2000<1 in 34291 in 4
LIPALysosomal acid lipase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 112
1 in 565
1 in 635
1 in 769
1 in 329
1 in 634
1 in 26
1 in 176
1 in 890
1 in 1000
1 in 1211
1 in 518
1 in 31700
1 in 867
1 in 78770
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 681918
<1 in 1,000,000
1 in 90133
1 in 123658
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 703
1 in 3560
1 in 4001
1 in 4845
1 in 2073
1 in 126800
1 in 3467
1 in 448
1 in 2260
1 in 2540
1 in 3076
1 in 1316
1 in 2536
1 in 104
1 in 703
1 in 3560
1 in 4001
1 in 4845
1 in 2073
1 in 126800
1 in 3467
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LIPCHepatic lipase deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LIPELipodystrophy, familial partial, type 6Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
LIPHHypotrichosis, type 7 or woolly hair, autosomal recessive, type 2, with or without hypotrichosis Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 500
1 in 500
N/A
N/A
1 in 500
1 in 2,995
1 in 3000
N/A
N/A
1 in 3000
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
1 in 11980
1 in 12000
N/A
N/A
1 in 12000
1 in 2000
1 in 2000
N/A
N/A
1 in 2000
1 in 11980
1 in 12000
N/A
N/A
1 in 12000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LIPNIchthyosis, congenital, autosomal recessive 8Autosomal recessiveCaucasian/European population1 in 335ReducedReducedReducedReduced1 in 1340Reduced1 in 4
LIPT1Lipoyltransferase 1 deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LIPT2Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalitiesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LMAN1Combined deficiency of factor V and factor VIII, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 2998<1 in 1,000,000<1 in 1,000,000<1 in 11992<1 in 2000<1 in 119921 in 4
LMBR1AcheiropodyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LMBRD1Methylmalonic aciduria and homocystinuria, cblF typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 414
1 in 1035
1 in 1835
1 in 2536
1 in 363
1 in 552
1 in 1380
1 in 2447
1 in 3381
1 in 484
1 in 913560
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 702768
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 937024
1 in 2207
1 in 5520
1 in 9787
1 in 13525
1 in 1936
1 in 1656
1 in 4140
1 in 7340
1 in 10144
1 in 1452
1 in 2207
1 in 5520
1 in 9787
1 in 13525
1 in 1936
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LMF1Lipase deficiency, combinedAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
LMNALMNA-related disorders, autosomal recessiveAutosomal recessiveGeneral population1 in 3741 in 3891 in 5827661 in 6060271 in 15571 in 14971 in 15571 in 4
LMOD3Nemaline myopathy 10Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LONP1CODAS syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LOXHD1Deafness, autosomal recessive, type 77Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 150
1 in 282
1 in 358
1 in 353
1 in 341
1 in 180
1 in 293
1 in 552
1 in 701
1 in 691
1 in 668
1 in 6000
1 in 175675
1 in 622938
<1 in 1,000,000
1 in 976104
1 in 910868
<1 in 1,000,000
1 in 342908
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1171
1 in 2209
1 in 2804
1 in 2765
1 in 2671
1 in 24000
1 in 600
1 in 1128
1 in 1432
1 in 1412
1 in 1364
1 in 720
1 in 1171
1 in 2209
1 in 2804
1 in 2765
1 in 2671
1 in 24000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LPAR6Hypotrichosis, type 8 or woolly hair, autosomal recessive, type 1, with or without hypotrichosisAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
LPIN1Myoglobinuria, acute recurrent, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1125<1 in 1,000,000<1 in 1,000,000<1 in 4500<1 in 2000<1 in 45001 in 4
LPIN2Majeed syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1300<1 in 1,000,000<1 in 1,000,000<1 in 5199<1 in 2000<1 in 51991 in 4
LPLLipoprotein lipase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 374
1 in 68
1 in 1452
1 in 214
1 in 145
1 in 1,120
1 in 204
1 in 4356
1 in 642
1 in 435
<1 in 1,000,000
1 in 55488
<1 in 1,000,000
1 in 549552
1 in 252300
<1 in 1,000,000
1 in 166464
<1 in 1,000,000
<1 in 1,000,000
1 in 756900
1 in 4480
1 in 816
1 in 17424
1 in 2568
1 in 1740
1 in 1496
1 in 272
1 in 5808
1 in 856
1 in 580
1 in 4480
1 in 816
1 in 17424
1 in 2568
1 in 1740
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LRATLeber congenital amaurosis type 14Autosomal recessiveCaucasian/European population1 in 70351 in 11431<1 in 1,000,000<1 in 1,000,0001 in 457251 in 281401 in 457251 in 4
LRBAImmunodeficiency, common variable, 8, with autoimmunityAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LRIG2Urofacial syndrome 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LRIT3Night blindness, congenital stationary (complete), 1F, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LRMDAAlbinism, oculocutaneous, type 7Autosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
LRP2Donnai-Barrow syndromeAutosomal recessiveCaucasian/European population1 in 2601 in 1253<1 in 1,000,000<1 in 1,000,0001 in 50111 in 10401 in 50111 in 4
LRP4Cenani-Lenz syndactyly syndromeAutosomal recessiveGeneral population<1 in 500<1 in 1624<1 in 1,000,000<1 in 1,000,000<1 in 6498<1 in 2000<1 in 64981 in 4
LRP5Osteoporosis-pseudoglioma syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1177<1 in 1,000,000<1 in 1,000,000<1 in 4709<1 in 2000<1 in 47091 in 4
LRPAP1Myopia, type 23, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
LRPPRCLeigh syndrome, French-Canadian typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 768
1 in 655
1 in 222
1 in 758
1 in 1786
1 in 1,560
1 in 1331
1 in 451
1 in 1540
1 in 3630
<1 in 1,000,000
<1 in 1,000,000
1 in 400631
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 814186
<1 in 1,000,000
<1 in 1,000,000
1 in 6239
1 in 5325
1 in 1805
1 in 6162
1 in 14518
1 in 3072
1 in 2620
1 in 888
1 in 3032
1 in 7144
1 in 6239
1 in 5325
1 in 1805
1 in 6162
1 in 14518
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LRRC6Ciliary dyskinesia, primary, type 19Autosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
LRSAM1Charcot-Marie-Tooth disease, axonal, type 2PAutosomal recessiveGeneral population≤1 in 500<1 in 646<1 in 1,000,000<1 in 1,000,000<1 in 2585<1 in 2000<1 in 25851 in 4
LRTOMTDeafness, autosomal recessive type 63Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
LSSCataract 44Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LTBP2Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaAutosomal recessiveGeneral population1 in 801 in 1741 in 554981 in 1212591 in 6961 in 3191 in 6961 in 4
LTBP3Dental anomalies and short statureAutosomal recessiveGeneral population≤1 in 500<1 in 1624<1 in 1,000,000<1 in 1,000,000<1 in 6498<1 in 2000<1 in 64981 in 4
LTBP4Cutis laxa, autosomal recessive, type 1CAutosomal recessiveCaucasian/European population1 in 641 in 1181 in 302081 in 556961 in 4721 in 2561 in 4721 in 4
LTC4SLeukotriene C4 synthase deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LYRM7Mitochondrial complex III deficiency, nuclear type 8Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
LYSTChediak-Higashi syndromeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
LZTFL1Bardet-Biedl syndrome, type 17Autosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
LZTR1Noonan syndrome, type 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MAGSpastic paraplegia 75, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MAGED2Bartter syndrome, type 5, antenatal, transientX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
MAGI2Nephrotic syndrome, type 15Autosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
MAGT1Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasiaX-linkedGeneral population<1 in 500,000<1 in 558824<1 in 1,000,000 - -1 in 4 - -
MAKRetinitis pigmentosa type 62Autosomal recessiveCaucasian/European population1 in 10101 in 1709<1 in 1,000,000<1 in 1,000,0001 in 68341 in 40401 in 68341 in 4
MALT1Immunodeficiency 12Autosomal recessiveCaucasian/European population1 in 680ReducedReducedReducedReduced1 in 2720Reduced1 in 4
MAMLD1Hypospadias 2, X-linkedX-linkedGeneral population≤1 in 500<1 in 49999951<1 in 1,000,000 - -1 in 4 - -
MAN1B1Mental retardation, autosomal recessive, type 15Autosomal recessiveGeneral population≤1 in 500<1 in 778<1 in 1,000,000<1 in 1,000,000<1 in 3112<1 in 2000<1 in 31121 in 4
MAN2B1Alpha-mannosidosisAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 274
1 in 290
1 in 982
1 in 795
1 in 665
1 in 1,247
1 in 1323
1 in 4480
1 in 3627
1 in 3034
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4986
1 in 5293
1 in 17922
1 in 14509
1 in 12136
1 in 1096
1 in 1160
1 in 3928
1 in 3180
1 in 2660
1 in 4986
1 in 5293
1 in 17922
1 in 14509
1 in 12136
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MANBAMannosidosis, betaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 684
1 in 1057
1 in 1513
1 in 1028
1 in 345
1 in 1,709
1 in 2643
1 in 3783
1 in 2570
1 in 863
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6834
1 in 10570
1 in 15130
1 in 10280
1 in 3450
1 in 2736
1 in 4228
1 in 6052
1 in 4112
1 in 1380
1 in 6834
1 in 10570
1 in 15130
1 in 10280
1 in 3450
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MAOABrunner syndromeX-linkedGeneral population≤1 in 500<1 in 1000000<1 in 1,000,000 - -1 in 4 - -
MAP3K20Centronuclear myopathy 6 with fiber-type disproportionAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MAPKBP1Nephronophthisis 20Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MAPTSupranuclear palsy, progressive atypical (parkinsonism syndrome)Autosomal recessiveGeneral population≤1 in 500<1 in 572<1 in 1,000,000<1 in 1,000,000<1 in 2287<1 in 2000<1 in 22871 in 4
MARS1Interstitial lung and liver diseaseAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MARS2Spastic ataxia, type 3, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
MARVELD2Deafness, autosomal recessive type 49Autosomal recessiveGeneral population≤1 in 500<1 in 786<1 in 1,000,000<1 in 1,000,000<1 in 3144<1 in 2000<1 in 31441 in 4
MASP13MC syndrome 1Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
MASP2MASP2 deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MAT1AMethionine adenosyltransferase deficiency, autosomal recessiveAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 708
N/A
N/A
N/A
N/A
1 in 1,920
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 7680
N/A
N/A
N/A
N/A
1 in 2832
N/A
N/A
N/A
N/A
1 in 7680
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MATN3?Spondyloepimetaphyseal dysplasiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MBOAT7Mental retardation, autosomal recessive 57Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MBTPS2IFAP/BRESHECK syndrome; Osteogenesis imperfecta, type 19X-linkedGeneral population≤1 in 500<1 in 1375000<1 in 1,000,000 - -1 in 4 - -
MC2RGlucocorticoid deficiency, due to ACTH unresponsivenessAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
MCCC13-Methylcrotonyl-CoA carboxylase deficiency, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 353
1 in 904
1 in 1157
1 in 417
1 in 370
1 in 705
1 in 1808
1 in 2314
1 in 834
1 in 740
1 in 995460
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2820
1 in 7232
1 in 9256
1 in 3336
1 in 2960
1 in 1412
1 in 3616
1 in 4628
1 in 1668
1 in 1480
1 in 2820
1 in 7232
1 in 9256
1 in 3336
1 in 2960
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MCCC23-Methylcrotonyl-CoA carboxylase deficiency, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 204
1 in 407
1 in 192
1 in 308
1 in 125
1 in 788
1 in 1577
1 in 744
1 in 1194
1 in 484
1 in 642702
<1 in 1,000,000
1 in 571392
<1 in 1,000,000
1 in 242188
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 938477
1 in 3151
1 in 6309
1 in 2976
1 in 4774
1 in 1938
1 in 816
1 in 1628
1 in 768
1 in 1232
1 in 500
1 in 3151
1 in 6309
1 in 2976
1 in 4774
1 in 1938
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MCEEMethylmalonyl-CoA epimerase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
1 in 1878
1 in 2277
1 in 7646
N/A
1 in 50,000
1 in 187800
1 in 227700
1 in 764600
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
1 in 199804
1 in 751200
1 in 910800
<1 in 1,000,000
N/A
1 in 2002
1 in 7512
1 in 9108
1 in 30584
N/A
1 in 199804
1 in 751200
1 in 910800
<1 in 1,000,000
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MCFD2Combined deficiency of factor V and factor VIII, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 900<1 in 1,000,000<1 in 1,000,000<1 in 3600<1 in 2000<1 in 36001 in 4
MCIDASCiliary dyskinesia, primary, 42Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MCM3APPeripheral neuropathy, autosomal recessive, with or without impaired intellectual developmentAutosomal recessiveGeneral population≤1 in 500<1 in 643<1 in 1,000,000<1 in 1,000,000<1 in 2573<1 in 2000<1 in 25731 in 4
MCM4Immunodeficiency 54Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MCM9Ovarian dysgenesis 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MCOLN1Mucolipidosis type 4Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 1,166
1 in 2037
N/A
1 in 2565
1 in 1537
1 in 115
1 in 4,850
1 in 8479
N/A
1 in 10677
1 in 6398
1 in 483
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 214707
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 933511
1 in 19402
1 in 33917
N/A
1 in 42709
1 in 25592
1 in 1932
1 in 4664
1 in 8148
N/A
1 in 10260
1 in 6148
1 in 444
1 in 19402
1 in 33917
N/A
1 in 42709
1 in 25592
1 in 1932
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MCPH1Microcephaly type 1, primary, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 2998<1 in 1,000,000<1 in 1,000,000<1 in 11992<1 in 2000<1 in 119921 in 4
MDH2Epileptic encephalopathy, early infantile, 51Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MECP2Encephalopathy, neonatal severe; Rett syndromeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500,000
N/A
N/A
N/A
N/A
1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
MECRDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalitiesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MED12Lujan-Fryns syndromeX-linkedGeneral population≤1 in 500<1 in 629630<1 in 1,000,000 - -1 in 4 - -
MED17Microcephaly, postnatal progressive, with seizures and brain atrophyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 1,287
N/A
N/A
N/A
N/A
N/A
1 in 20
N/A
N/A
N/A
N/A
N/A
N/A
1 in 667
N/A
N/A
N/A
N/A
N/A
N/A
1 in 53333
N/A
N/A
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
N/A
N/A
1 in 2667
1 in 5148
N/A
N/A
N/A
N/A
N/A
1 in 80
N/A
N/A
N/A
N/A
N/A
N/A
1 in 2667
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MED23Mental retardation, autosomal recessive, type 18Autosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
MED25Basel-Vanagait-Smirin-Yosef syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 2998<1 in 1,000,000<1 in 1,000,000<1 in 11992<1 in 2000<1 in 119921 in 4
MEFVFamilial Mediterranean feverAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 40
1 in 230
1 in 141
1 in 56
1 in 74
1 in 8-13
1 in 95
1 in 552
1 in 338
1 in 134
1 in 178
N/A
1 in 15136
1 in 507840
1 in 190858
1 in 30106
1 in 52570
N/A
1 in 35797
<1 in 1,000,000
1 in 458058
1 in 72253
1 in 126167
N/A
1 in 378
1 in 2208
1 in 1354
1 in 538
1 in 710
N/A
1 in 160
1 in 920
1 in 564
1 in 224
1 in 296
1 in 40
1 in 378
1 in 2208
1 in 1354
1 in 538
1 in 710
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MEGF10Myopathy, areflexia, respiratory distress, and dysphagia, early-onsetAutosomal recessiveGeneral population≤1 in 500<1 in 1642<1 in 1,000,000<1 in 1,000,000<1 in 6569<1 in 2000<1 in 65691 in 4
MEGF8Carpenter syndrome 2Autosomal recessiveCaucasian/European population1 in 375ReducedReducedReducedReduced1 in 1500Reduced1 in 4
MEOX1Klippel-Feil syndrome 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MERTKRetinitis pigmentosa type 38Autosomal recessiveGeneral population≤1 in 500<1 in 730<1 in 1,000,000<1 in 1,000,000<1 in 2920<1 in 2000<1 in 29201 in 4
MESP2Spondylocostal dysostosis, type 2, autosomal recessiveAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 3,820
1 in 145
1 in 237
1 in 168
1 in 216
1 in 4,457
1 in 169
1 in 277
1 in 196
1 in 252
<1 in 1,000,000
1 in 98117
1 in 262122
1 in 131712
1 in 217728
<1 in 1,000,000
1 in 114469
1 in 305809
1 in 153664
1 in 254016
1 in 17826
1 in 677
1 in 1106
1 in 784
1 in 1008
1 in 15280
1 in 580
1 in 948
1 in 672
1 in 864
1 in 17826
1 in 677
1 in 1106
1 in 784
1 in 1008
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
METTL23Mental retardation, autosomal recessive 44Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MFFEncephalopathy due to defective mitochondrial and peroxisomal fission, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 2499<1 in 1,000,000<1 in 1,000,000<1 in 9994<1 in 2000<1 in 99941 in 4
MFN2Charcot-Marie-Tooth disease, axonal, type 2A2BAutosomal recessiveGeneral population≤1 in 500<1 in 951<1 in 1,000,000<1 in 1,000,000<1 in 3804<1 in 2000<1 in 38041 in 4
MFRPMicrophthalmia, isolated type 5Autosomal recessiveGeneral population≤1 in 500<1 in 1363<1 in 1,000,000<1 in 1,000,000<1 in 5453<1 in 2000<1 in 54531 in 4
MFSD2AMicrocephaly 15, primary, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
MFSD8Ceroid lipofuscinosis, neuronal, type 7Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 555
1 in 1351
1 in 869
1 in 480
1 in 1289
1 in 1,272
1 in 3099
1 in 1994
1 in 1101
1 in 2957
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5088
1 in 12397
1 in 7974
1 in 4405
1 in 11828
1 in 2220
1 in 5404
1 in 3476
1 in 1920
1 in 5156
1 in 5088
1 in 12397
1 in 7974
1 in 4405
1 in 11828
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MGAT2Congenital disorder of glycosylation, type 2aAutosomal recessiveGeneral population<1 in 500<1 in 857<1 in 1,000,000<1 in 1,000,000<1 in 3429<1 in 2000<1 in 34291 in 4
MGME1Mitochondrial DNA depletion syndrome 11Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MGPKeutel syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MICU1Myopathy with extrapyramidal signsAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MID1Opitz GBBB syndrome, type 1X-linkedGeneral population≤1 in 500<1 in 964286<1 in 1,000,000 - -1 in 4 - -
MIPEPCombined oxidative phosphorylation deficiency 31Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MITFCOMMAD syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 905<1 in 1,000,000<1 in 1,000,000<1 in 3619<1 in 2000<1 in 36191 in 4
MKKSBardet-Biedl syndrome type 6Autosomal recessiveCaucasian/European population1 in 491 in 761 in 149221 in 231831 in 3051 in 1961 in 3051 in 4
MKS1Bardet-Biedl syndrome type 13; Meckel syndrome, type 1; Joubert syndrome, type 28Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 246
1 in 750
1 in 283
1 in 355
1 in 1066
1 in 859
1 in 2625
1 in 991
1 in 1243
1 in 3731
1 in 844764
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3434
1 in 10500
1 in 3962
1 in 4970
1 in 14924
1 in 984
1 in 3000
1 in 1132
1 in 1420
1 in 4264
1 in 3434
1 in 10500
1 in 3962
1 in 4970
1 in 14924
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MLC1Megalencephalic leukoencephalopathy with subcortical cystsAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 884
1 in 737
1 in 1710
1 in 1280
1 in 5597
1 in 196
1 in 4,416
1 in 3685
1 in 8550
1 in 6400
1 in 27985
1 in 19600
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 17664
1 in 14740
1 in 34200
1 in 25600
1 in 111940
1 in 78400
1 in 3536
1 in 2948
1 in 6840
1 in 5120
1 in 22388
1 in 784
1 in 17664
1 in 14740
1 in 34200
1 in 25600
1 in 111940
1 in 78400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MLPHGriscelli syndrome, type 3Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
MLYCDMalonyl-CoA decarboxylase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
1 in 1,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 4000
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 4000
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MMAAMethylmalonic aciduria, vitamin B12-responsiveAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 677
1 in 280
1 in 2156
1 in 1167
1 in 2098
1 in 2,619
1 in 1084
1 in 8349
1 in 4519
1 in 8124
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 10475
1 in 4337
1 in 33396
1 in 18077
1 in 32497
1 in 2708
1 in 1120
1 in 8624
1 in 4668
1 in 8392
1 in 10475
1 in 4337
1 in 33396
1 in 18077
1 in 32497
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MMABMethylmalonic aciduria, vitamin B12-responsive, type cblBAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 672
1 in 542
N/A
1 in 640
1 in 1411
1 in 3,220
1 in 2600
N/A
1 in 3070
1 in 6769
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 12879
1 in 10400
N/A
1 in 12280
1 in 27075
1 in 2688
1 in 2168
N/A
1 in 2560
1 in 5644
1 in 12879
1 in 10400
N/A
1 in 12280
1 in 27075
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MMACHCMethylmalonic aciduria and homocystinuria, cblC typeAutosomal recessive, digenic inheritance (PRDX1 gene)General
African/African American
East Asian
South Asian
Latino
1 in 224
1 in 280
1 in 184
1 in 230
1 in 102
1 in 2,232
1 in 2800
1 in 1840
1 in 2300
1 in 1020
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 416160
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 8928
1 in 11200
1 in 7360
1 in 9200
1 in 4080
1 in 896
1 in 1120
1 in 736
1 in 920
1 in 408
1 in 8928
1 in 11200
1 in 7360
1 in 9200
1 in 4080
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MMADHCHomocystinuria, cblD type, variant 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,194
1 in 3366
1 in 1720
1 in 1282
1 in 5641
1 in 6,215
1 in 9537
1 in 4873
1 in 3632
1 in 15983
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 24858
1 in 38148
1 in 19493
1 in 14529
1 in 63931
1 in 8776
1 in 13464
1 in 6880
1 in 5128
1 in 22564
1 in 24858
1 in 38148
1 in 19493
1 in 14529
1 in 63931
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MMECharcot-Marie-Tooth disease, axonal, type 2TAutosomal recessive*General population≤1 in 500<1 in 792<1 in 1,000,000<1 in 1,000,000<1 in 3168<1 in 2000<1 in 31681 in 4
MMP1{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MMP13Metaphyseal dysplasia, Spahr typeAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
MMP2Multicentric osteolysis, nodulosis, and arthropathy (MONA)Autosomal recessiveGeneral population≤1 in 500<1 in 1999<1 in 1,000,000<1 in 1,000,000<1 in 7996<1 in 2000<1 in 79961 in 4
MMP20Amelogenesis imperfecta, type 2A2 (hypomaturation type)Autosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
MMP21Heterotaxy, visceral, 7, autosomalAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MMP9Metaphyseal anadysplasia 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MMUTMethylmalonic aciduria, mut(0) typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 296
1 in 145
1 in 110
1 in 72
1 in 180
1 in 1,169
1 in 574
1 in 435
1 in 285
1 in 712
<1 in 1,000,000
1 in 332861
1 in 191563
1 in 82071
1 in 512946
<1 in 1,000,000
<1 in 1,000,000
1 in 758191
1 in 324831
<1 in 1,000,000
1 in 4674
1 in 2296
1 in 1741
1 in 1140
1 in 2850
1 in 1184
1 in 580
1 in 440
1 in 288
1 in 720
1 in 4674
1 in 2296
1 in 1741
1 in 1140
1 in 2850
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MOCOSXanthinuria, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
MOCS1Molybdenum cofactor deficiency AAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
MOCS2Molybdenum cofactor deficiency BAutosomal recessiveGeneral population≤1 in 500<1 in 2998<1 in 1,000,000<1 in 1,000,000<1 in 11992<1 in 2000<1 in 119921 in 4
MOGSCongenital disorder of glycosylation, type 2BAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 667
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 2668
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 2668
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MPC1Mitochondrial pyruvate carrier deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MPDU1Congenital disorder of glycosylation, type 1FAutosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
MPDZHydrocephalus, congenital, type 2, with or without brain or eye anomaliesAutosomal recessiveGeneral population≤1 in 500<1 in 945<1 in 1,000,000<1 in 1,000,000<1 in 3778<1 in 2000<1 in 37781 in 4
MPICongenital disorder of glycosylation, type 1BAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 473
1 in 688
1 in 442
1 in 1924
1 in 1139
1 in 9441
1 in 13760
1 in 8840
1 in 38480
1 in 22780
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 37764
1 in 55040
1 in 35360
1 in 153920
1 in 91120
1 in 1892
1 in 2752
1 in 1768
1 in 7696
1 in 4556
1 in 37764
1 in 55040
1 in 35360
1 in 153920
1 in 91120
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MPIG6BThrombocytopenia, anemia, and myelofibrosisAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MPLThrombocytopenia, congenital amegakaryocyticAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 241
1 in 496
1 in 681
1 in 617
1 in 602
1 in 56
1 in 433
1 in 893
1 in 1226
1 in 1111
1 in 1084
1 in 1866
1 in 417412
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 417867
1 in 749956
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1732
1 in 3571
1 in 4903
1 in 4442
1 in 4334
1 in 7464
1 in 964
1 in 1984
1 in 2724
1 in 2468
1 in 2408
1 in 224
1 in 1732
1 in 3571
1 in 4903
1 in 4442
1 in 4334
1 in 7464
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MPLKIPTrichothiodystrophy, type 4, nonphotosensitiveAutosomal recessiveGeneral population≤1 in 500<1 in 1333<1 in 1,000,000<1 in 1,000,000<1 in 5332<1 in 2000<1 in 53321 in 4
MPOMyeloperoxidase deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
MPV17Mitochondrial DNA depletion syndrome type 6 (hepatocerebral); Charcot-Marie-Tooth disease, axonal, type 2EEAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 612
1 in 566
N/A
1 in 1399
N/A
1 in 1,783
1 in 1651
N/A
1 in 4080
N/A
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
N/A
1 in 7132
1 in 6603
N/A
1 in 16322
N/A
1 in 2448
1 in 2264
N/A
1 in 5596
N/A
1 in 7132
1 in 6603
N/A
1 in 16322
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MPZDejerine-Sottas diseaseAutosomal recessive*General population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MRAPGlucocorticoid deficiency, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
MRE11Ataxia-telangiectasia-like disorder 1Autosomal recessiveGeneral Population1 in 5001 in 1099<1 in 1,000,000<1 in 1,000,0001 in 43951 in 20001 in 43951 in 4
MRPL3Combined oxidative phosphorylation deficiency 9Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MRPS16Combined oxidative phosphorylation deficiency 2Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
MRPS2Combined oxidative phosphorylation deficiency 36Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MRPS22Combined oxidative phosphorylation deficiency type 5Autosomal recessiveGeneral population≤1 in 500<1 in 1167<1 in 1,000,000<1 in 1,000,000<1 in 4666<1 in 2000<1 in 46661 in 4
MRPS34Combined oxidative phosphorylation deficiency 32Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MS4A1Immunodeficiency, common variable, 5Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MSH3Familial adenomatous polyposis, type 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MSMO1Microcephaly, congenital cataract, and psoriasiform dermatitisAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
MSNImmunodeficiency 50X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
MSRB3Deafness, autosomal recessive, type 74Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MSTNMuscle hypertrophyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MSTO1Myopathy, mitochondrial, and ataxiaAutosomal recessive*General population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MTFMTCombined oxidative phosphorylation deficiency 15Autosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
MTHFD1Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemiaAutosomal recessiveCaucasian/European population1 in 2011 in 2581 in 2075471 in 2665511 in 10331 in 8041 in 10331 in 4
MTHFRHomocystinuria due to MTHFR deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 1,119
N/A
N/A
N/A
N/A
N/A
1 in 39
N/A
N/A
N/A
N/A
N/A
N/A
1 in 1300
N/A
N/A
N/A
N/A
N/A
N/A
1 in 202800
N/A
N/A
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
N/A
N/A
1 in 5200
1 in 4476
N/A
N/A
N/A
N/A
N/A
1 in 156
N/A
N/A
N/A
N/A
N/A
N/A
1 in 5200
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MTM1Myotubular myopathy, X-linkedX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 29,412
N/A
N/A
N/A
N/A
<1 in 140,000
N/A
N/A
N/A
N/A
1 in 561248
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
MTMR2Charcot-Marie-Tooth disease, type 4B1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
1 in 1,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 4000
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 4000
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MTO1Combined oxidative phosphorylation deficiency 10Autosomal recessiveGeneral population≤1 in 500<1 in 769<1 in 1,000,000<1 in 1,000,000<1 in 3078<1 in 2000<1 in 30781 in 4
MTRHomocystinuria-megaloblastic anemia, cblG complementation typeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 864
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 3455
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 3455
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MTRRHomocystinuria-megaloblastic anemia, cbl E typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 642
1 in 759
N/A
1 in 2565
1 in 489
1 in 875
1 in 1035
N/A
1 in 3498
1 in 667
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 3500
1 in 4140
N/A
1 in 13991
1 in 2667
1 in 2568
1 in 3036
N/A
1 in 10260
1 in 1956
1 in 3500
1 in 4140
N/A
1 in 13991
1 in 2667
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MTTPAbetalipoproteinemiaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 655
1 in 1354
1 in 1437
1 in 3078
1 in 2131
1 in 186
1 in 1,496
1 in 3095
1 in 3285
1 in 7035
1 in 4871
1 in 6200
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5983
1 in 12379
1 in 13138
1 in 28142
1 in 19483
1 in 24800
1 in 2620
1 in 5416
1 in 5748
1 in 12312
1 in 8524
1 in 744
1 in 5983
1 in 12379
1 in 13138
1 in 28142
1 in 19483
1 in 24800
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MUSKFetal akinesia deformation sequence, type 1; Myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiencyAutosomal recessiveGeneral population<1 in 500<1 in 818<1 in 1,000,000<1 in 1,000,000<1 in 3273<1 in 2000<1 in 32731 in 4
MUTYHAdenomas, multiple colorectalAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MVKMevalonic aciduriaAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 286
N/A
N/A
N/A
N/A
1 in 2,261
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 9043
N/A
N/A
N/A
N/A
1 in 1143
N/A
N/A
N/A
N/A
1 in 9043
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MYBPC1Lethal congenital contracture syndrome, type 4Autosomal recessiveGeneral population≤1 in 500<1 in 563<1 in 1,000,000<1 in 1,000,000<1 in 2252<1 in 2000<1 in 22521 in 4
MYD88Pyogenic bacterial infections, recurrent, due to MYD88 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 667<1 in 1,000,000<1 in 1,000,000<1 in 2668<1 in 2000<1 in 26681 in 4
MYH2Proximal myopathy and ophthalmoplegiaAutosomal recessiveGeneral population≤1 in 500<1 in 950<1 in 1,000,000<1 in 1,000,000<1 in 3800<1 in 2000<1 in 38001 in 4
MYMKCarey-Fineman-Ziter syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MYO15ADeafness, autosomal recessive, type 3Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MYO18BKlippel-Feil syndrome, type 4, autosomal recessive, with myopathy and facial dysmorphismAutosomal recessiveGeneral population≤1 in 500<1 in 584<1 in 1,000,000<1 in 1,000,000<1 in 2335<1 in 2000<1 in 23351 in 4
MYO1EGlomerulosclerosis, focal segmental, 6Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MYO3ADeafness, autosomal recessive type 30Autosomal recessiveGeneral population≤1 in 500<1 in 2499<1 in 1,000,000<1 in 1,000,000<1 in 9994<1 in 2000<1 in 99941 in 4
MYO5AGriscelli syndrome, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
MYO5BMicrovillus inclusion diseaseAutosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
MYO6Deafness, autosomal recessive type 37Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
MYO7AUsher syndrome, type 1B; Deafness, autosomal recessive, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 129
1 in 174
1 in 119
1 in 61
1 in 300
1 in 371
1 in 503
1 in 344
1 in 176
1 in 867
1 in 191339
1 in 349888
1 in 163653
1 in 43002
<1 in 1,000,000
1 in 550004
<1 in 1,000,000
1 in 472818
1 in 124240
<1 in 1,000,000
1 in 1483
1 in 2011
1 in 1375
1 in 705
1 in 3467
1 in 516
1 in 696
1 in 476
1 in 244
1 in 1200
1 in 1483
1 in 2011
1 in 1375
1 in 705
1 in 3467
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
MYPNNemaline myopathy, type 11, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
NAA10Ogden syndromeX-linkedGeneral population≤1 in 500<1 in 909091<1 in 1,000,000 - -1 in 4 - -
NADK22,4-dienoyl-CoA reductase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NAGASchindler disease, type IAutosomal recessiveGeneral population≤1 in 500<1 in 2998<1 in 1,000,000<1 in 1,000,000<1 in 11992<1 in 2000<1 in 119921 in 4
NAGLUMucopolysaccharidosis, type 3B (Sanfilippo B)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 346
1 in 216
1 in 324
1 in 442
1 in 647
1 in 644
1 in 403
1 in 604
1 in 824
1 in 1207
1 in 891820
1 in 348029
1 in 783064
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 649026
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2578
1 in 1611
1 in 2417
1 in 3297
1 in 4826
1 in 1384
1 in 864
1 in 1296
1 in 1768
1 in 2588
1 in 2578
1 in 1611
1 in 2417
1 in 3297
1 in 4826
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NAGSN-acetylglutamate synthase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 920
1 in 701
N/A
1 in 2850
1 in 2493
1 in 1,755
1 in 1338
N/A
1 in 5441
1 in 4759
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
1 in 7022
1 in 5353
N/A
1 in 21764
1 in 19037
1 in 3680
1 in 2804
N/A
1 in 11400
1 in 9972
1 in 7022
1 in 5353
N/A
1 in 21764
1 in 19037
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NALCNHypotonia, infantile, with psychomotor retardation and characteristic facies 1Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NANSSpondyloepimetaphyseal dysplasia, Camera-Genevieve typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NARS2Combined oxidative phosphorylation deficiency 24Autosomal recessiveGeneral population≤1 in 500<1 in 693<1 in 1,000,000<1 in 1,000,000<1 in 2770<1 in 2000<1 in 27701 in 4
NAXEEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NBASInfantile liver failure syndrome, type 2; Short stature, optic nerve atrophy, and Pelger-Huet anomalyAutosomal recessiveCaucasian/European population1 in 2281 in 3421 in 3114481 in 4664891 in 13661 in 9121 in 13661 in 4
NBEAL2Gray platelet syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 786<1 in 1,000,000<1 in 1,000,000<1 in 3144<1 in 2000<1 in 31441 in 4
NBNNijmegen breakage syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 525
1 in 503
1 in 2137
1 in 1025
1 in 1403
1 in 1,667
1 in 1600
1 in 6796
1 in 3260
1 in 4462
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6669
1 in 6398
1 in 27183
1 in 13038
1 in 17846
1 in 2100
1 in 2012
1 in 8548
1 in 4100
1 in 5612
1 in 6669
1 in 6398
1 in 27183
1 in 13038
1 in 17846
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NCAPD3Microcephaly 22, primary, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NCF1Chronic granulomatous disease, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 343
1 in 358
1 in 1110
1 in 437
1 in 220
1 in 1,027
1 in 1074
1 in 3330
1 in 1311
1 in 660
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 580800
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4108
1 in 4296
1 in 13320
1 in 5244
1 in 2640
1 in 1372
1 in 1432
1 in 4440
1 in 1748
1 in 880
1 in 4108
1 in 4296
1 in 13320
1 in 5244
1 in 2640
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NCF2Chronic granulomatous disease, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,883
1 in 556
1 in 2262
1 in 2189
1 in 8129
1 in 3,953
1 in 1168
1 in 4750
1 in 4597
1 in 17071
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 15813
1 in 4670
1 in 19001
1 in 18388
1 in 68284
1 in 7532
1 in 2224
1 in 9048
1 in 8756
1 in 32516
1 in 15813
1 in 4670
1 in 19001
1 in 18388
1 in 68284
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NCF4Chronic granulomatous disease, type 3Autosomal recessiveCaucasian/European population1 in 540ReducedReducedReducedReduced1 in 2160Reduced1 in 4
NDE1Lissencephaly, type 4 (with microcephaly)Autosomal recessiveGeneral population≤1 in 500<1 in 616<1 in 1,000,000<1 in 1,000,000<1 in 2463<1 in 2000<1 in 24631 in 4
NDPNorrie diseaseX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 50,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
NDRG1Charcot-Marie-Tooth disease, type 4DAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 7,299
N/A
1 in 2252
1 in 4789
N/A
1 in 29,193
N/A
1 in 9008
1 in 19156
N/A
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
N/A
1 in 116772
N/A
1 in 36032
1 in 76624
N/A
1 in 29196
N/A
1 in 9008
1 in 19156
N/A
1 in 116772
N/A
1 in 36032
1 in 76624
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NDST1Mental retardation, autosomal recessive, type 46Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NDUFA1Mitochondrial complex I deficiencyX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
NDUFA10Mitochondrial complex I deficiency, nuclear type 22Autosomal recessiveGeneral population≤1 in 500<1 in 625<1 in 1,000,000<1 in 1,000,000<1 in 2502<1 in 2000<1 in 25021 in 4
NDUFA11Mitochondrial complex I deficiency, nuclear type 14Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
NDUFA12?Mitochondrial complex I deficiency, nuclear type 23Autosomal recessiveGeneral population≤1 in 500<1 in 750<1 in 1,000,000<1 in 1,000,000<1 in 3001<1 in 2000<1 in 30011 in 4
NDUFA2Mitochondrial complex I deficiency, nuclear type 13Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NDUFA9Mitochondrial complex I deficiency, nuclear type 26Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NDUFAF1Mitochondrial complex I deficiency, nuclear type 11Autosomal recessiveGeneral population≤1 in 500<1 in 1749<1 in 1,000,000<1 in 1,000,000<1 in 6997<1 in 2000<1 in 69971 in 4
NDUFAF2Mitochondrial complex I deficiency, nuclear type 10Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,014
1 in 796
1 in 889
1 in 1326
1 in 1625
1 in 2,365
1 in 1857
1 in 2074
1 in 3094
1 in 3792
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 9459
1 in 7429
1 in 8297
1 in 12376
1 in 15167
1 in 4056
1 in 3184
1 in 3556
1 in 5304
1 in 6500
1 in 9459
1 in 7429
1 in 8297
1 in 12376
1 in 15167
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NDUFAF3Mitochondrial complex I deficiency, nuclear type 18Autosomal recessiveGeneral population≤1 in 500<1 in 700<1 in 1,000,000<1 in 1,000,000<1 in 2801<1 in 2000<1 in 28011 in 4
NDUFAF4Mitochondrial complex I deficiency, ARAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NDUFAF5Mitochondrial complex I deficiency, nuclear type 16Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 982
1 in 861
1 in 309
1 in 1180
1 in 1625
≤1 in 157
1 in 1,262
1 in 1107
1 in 397
1 in 1517
1 in 2089
1 in 6790
<1 in 1,000,000
<1 in 1,000,000
1 in 491045
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 631344
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5049
1 in 4428
1 in 1589
1 in 6069
1 in 8357
1 in 27162
1 in 3928
1 in 3444
1 in 1236
1 in 4720
1 in 6500
1 in 815
1 in 5049
1 in 4428
1 in 1589
1 in 6069
1 in 8357
1 in 27162
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NDUFAF6Mitochondrial complex I deficiency, nuclear type 17Autosomal recessiveGeneral population≤1 in 500<1 in 769<1 in 1,000,000<1 in 1,000,000<1 in 3078<1 in 2000<1 in 30781 in 4
NDUFB11Linear skin defects with multiple congenital anomalies, type 3; ?Mitochondrial complex I deficiencyX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
NDUFB3Mitochondrial complex I deficiency, nuclear type 25Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
NDUFB9Mitochondrial complex I deficiency, ARAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NDUFS1Mitochondrial complex I deficiency, nuclear type 5Autosomal recessiveGeneral population≤1 in 500<1 in 806<1 in 1,000,000<1 in 1,000,000<1 in 3223<1 in 2000<1 in 32231 in 4
NDUFS2Mitochondrial complex I deficiency, nuclear type 6Autosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
NDUFS3Mitochondrial complex I deficiency, nuclear type 8Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
NDUFS4Mitochondrial complex I deficiency, nuclear type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,738
1 in 1103
1 in 4597
1 in 1914
1 in 1207
1 in 5,212
1 in 3309
1 in 13791
1 in 5742
1 in 3621
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 20848
1 in 13236
1 in 55164
1 in 22968
1 in 14484
1 in 6952
1 in 4412
1 in 18388
1 in 7656
1 in 4828
1 in 20848
1 in 13236
1 in 55164
1 in 22968
1 in 14484
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NDUFS6Mitochondrial complex I deficiency, nuclear type 9Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 3,535
1 in 1896
1 in 1473
1 in 1398
1 in 2452
1 in 1113
1 in 24
1 in 4,419
1 in 2370
1 in 1841
1 in 1748
1 in 3065
1 in 37100
1 in 800
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 76800
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 17674
1 in 9480
1 in 7365
1 in 6990
1 in 12260
1 in 148400
1 in 3200
1 in 14140
1 in 7584
1 in 5892
1 in 5592
1 in 9808
1 in 4452
1 in 96
1 in 17674
1 in 9480
1 in 7365
1 in 6990
1 in 12260
1 in 148400
1 in 3200
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NDUFS7Mitochondrial complex I deficiency, nuclear type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 839
1 in 2327
1 in 3320
1 in 180
1 in 1552
1 in 1,049
1 in 2909
1 in 4150
1 in 225
1 in 1940
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 162000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 202500
<1 in 1,000,000
1 in 4194
1 in 11635
1 in 16600
1 in 900
1 in 7760
1 in 3356
1 in 9308
1 in 13280
1 in 720
1 in 6208
1 in 4194
1 in 11635
1 in 16600
1 in 900
1 in 7760
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NDUFS8Mitochondrial complex I deficiency, nuclear type 2Autosomal recessiveGeneral population≤1 in 500<1 in 612<1 in 1,000,000<1 in 1,000,000<1 in 2446<1 in 2000<1 in 24461 in 4
NDUFV1Mitochondrial complex I deficiency, nuclear type 4Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 469
1 in 441
1 in 2260
1 in 319
1 in 157
1 in 736
1 in 693
1 in 3551
1 in 501
1 in 247
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 639641
1 in 154937
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 243472
1 in 2946
1 in 2772
1 in 14206
1 in 2005
1 in 987
1 in 1876
1 in 1764
1 in 9040
1 in 1276
1 in 628
1 in 2946
1 in 2772
1 in 14206
1 in 2005
1 in 987
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NDUFV2Mitochondrial complex I deficiency, ARAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NEBNemaline myopathy type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 175
1 in 368
1 in 123
1 in 200
1 in 172
1 in 124
1 in 517
1 in 1091
1 in 365
1 in 593
1 in 510
1 in 123
1 in 361754
<1 in 1,000,000
1 in 179389
1 in 474291
1 in 350786
1 in 60074
<1 in 1,000,000
<1 in 1,000,000
1 in 531765
<1 in 1,000,000
<1 in 1,000,000
1 in 60681
1 in 2067
1 in 4363
1 in 1458
1 in 2371
1 in 2039
1 in 493
1 in 700
1 in 1472
1 in 492
1 in 800
1 in 688
1 in 488
1 in 2067
1 in 4363
1 in 1458
1 in 2371
1 in 2039
1 in 493
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NECTIN1Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NECTIN4Ectodermal dysplasia-syndactyly syndrome, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 3498<1 in 1,000,000<1 in 1,000,000<1 in 13990<1 in 2000<1 in 139901 in 4
NEFLCharcot-Marie-Tooth disease, type 1FAutosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
NEK1Short-rib thoracic dysplasia, type 6, with or without polydactylyAutosomal recessiveGeneral population≤1 in 500<1 in 2299<1 in 1,000,000<1 in 1,000,000<1 in 9195<1 in 2000<1 in 91951 in 4
NEK8Renal-hepatic-pancreatic dysplasia, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 938<1 in 1,000,000<1 in 1,000,000<1 in 3750<1 in 2000<1 in 37501 in 4
NEK9Lethal congenital contracture syndrome 10Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NEU1Sialidosis, type 1 and type 2 Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,666
1 in 2833
1 in 279
1 in 3045
1 in 636
1 in 2,841
1 in 4833
1 in 476
1 in 5194
1 in 1085
<1 in 1,000,000
<1 in 1,000,000
1 in 531150
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 906080
<1 in 1,000,000
<1 in 1,000,000
1 in 11365
1 in 19331
1 in 1904
1 in 20778
1 in 4340
1 in 6664
1 in 11332
1 in 1116
1 in 12180
1 in 2544
1 in 11365
1 in 19331
1 in 1904
1 in 20778
1 in 4340
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NEUROG3Diarrhea type 4, malabsorptive, congenitalAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
NEXMIFMental retardation, X-linked 98X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
NFU1Multiple mitochondrial dysfunctions syndrome 1Autosomal recessiveGeneral population≤1 in 500<1 in 600<1 in 1,000,000<1 in 1,000,000<1 in 2402<1 in 2000<1 in 24021 in 4
NGFNeuropathy, hereditary sensory and autonomic, type 5Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NGLY1Congenital disorder of deglycosylationAutosomal recessiveCaucasian/European population1 in 610ReducedReducedReducedReduced1 in 2440Reduced1 in 4
NHEJ1Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiationAutosomal recessiveCaucasian/European population1 in 27501 in 10310<1 in 1,000,000<1 in 1,000,0001 in 412391 in 110001 in 412391 in 4
NHLRC1Epilepsy, progressive myoclonic, type 2B (Lafora)Autosomal recessiveGeneral population≤1 in 500<1 in 761<1 in 1,000,000<1 in 1,000,000<1 in 3044<1 in 2000<1 in 30441 in 4
NHP2Dyskeratosis congenita, autosomal recessive type 2Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 250
N/A
N/A
N/A
N/A
1 in 24,964
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 99855
N/A
N/A
N/A
N/A
1 in 1003
N/A
N/A
N/A
N/A
1 in 99855
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NHSCataract 40, X-linkedX-linkedGeneral population≤1 in 500<1 in 880953<1 in 1,000,000 - -1 in 4 - -
NINSeckel syndrome, type 7Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NIPAL4Ichthyosis, congenital, autosomal recessive, type 6Autosomal recessiveCaucasian/European population1 in 3721 in 4181 in 6225421 in 7001511 in 16741 in 14881 in 16741 in 4
NKX2-6Conotruncal heart malformationsAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
NKX3-2Spondylo-megaepiphyseal-metaphyseal dysplasiaAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NKX6-2Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NLGN4XMental retardation, X-linkedX-linked, Multifactorial, Isolated casesGeneral population1 in 450001 in 675001 in 269998 - -1 in 4 - -
NLRP1Autoinflammation with arthritis and dyskeratosisAutosomal recessive*General population≤1 in 500<1 in 2499<1 in 1,000,000<1 in 1,000,000<1 in 9994<1 in 2000<1 in 99941 in 4
NLRP7Hydatidiform mole, recurrent, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 500
1 in 500
N/A
N/A
1 in 500
1 in 722
1 in 722
N/A
N/A
1 in 722
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
1 in 2887
1 in 2889
N/A
N/A
1 in 2889
1 in 2000
1 in 2000
N/A
N/A
1 in 2000
1 in 2887
1 in 2889
N/A
N/A
1 in 2889
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NME8Ciliary dyskinesia, primary, type 6Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
NMNAT1Leber congenital amaurosis type 9Autosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
NNTGlucocorticoid deficiency 4, with or without mineralocorticoid deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NONOMental retardation, X-linked, syndromic 34X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
NOP10Dyskeratosis congenita, autosomal recessive type 1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 250
N/A
N/A
N/A
N/A
1 in 500
N/A
N/A
N/A
N/A
1 in 501507
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 2001
N/A
N/A
N/A
N/A
1 in 1003
N/A
N/A
N/A
N/A
1 in 2001
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NPC1Niemann-Pick disease, type C1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 163
1 in 233
1 in 211
1 in 334
1 in 272
1 in 954
1 in 1371
1 in 1242
1 in 1965
1 in 1601
1 in 622209
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3817
1 in 5484
1 in 4967
1 in 7862
1 in 6402
1 in 652
1 in 932
1 in 844
1 in 1336
1 in 1088
1 in 3817
1 in 5484
1 in 4967
1 in 7862
1 in 6402
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NPC2Niemann-pick disease, type C2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 945
1 in 1214
N/A
N/A
1 in 3089
1 in 3,588
1 in 4613
N/A
N/A
1 in 11738
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
1 in 14353
1 in 18453
N/A
N/A
1 in 46953
1 in 3780
1 in 4856
N/A
N/A
1 in 12356
1 in 14353
1 in 18453
N/A
N/A
1 in 46953
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NPHP1Joubert syndrome type 4Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 418
1 in 315
1 in 164
1 in 536
1 in 218
1 in 825
1 in 623
1 in 324
1 in 1060
1 in 431
<1 in 1,000,000
1 in 784570
1 in 212666
<1 in 1,000,000
1 in 375771
<1 in 1,000,000
<1 in 1,000,000
1 in 420386
<1 in 1,000,000
1 in 742803
1 in 3301
1 in 2491
1 in 1297
1 in 4238
1 in 1724
1 in 1672
1 in 1260
1 in 656
1 in 2144
1 in 872
1 in 3301
1 in 2491
1 in 1297
1 in 4238
1 in 1724
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NPHP3Meckel syndrome type 7Autosomal recessiveCaucasian/European population1 in 731 in 1231 in 359691 in 606951 in 4931 in 2921 in 4931 in 4
NPHP4Nephronophthisis type 4Autosomal recessiveGeneral population≤1 in 500<1 in 1154<1 in 1,000,000<1 in 1,000,000<1 in 4615<1 in 2000<1 in 46151 in 4
NPHS1Nephrotic syndrome, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 190
1 in 191
1 in 398
1 in 145
1 in 298
1 in 1,993
1 in 2013
1 in 4194
1 in 1528
1 in 3140
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 886285
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7971
1 in 8051
1 in 16777
1 in 6112
1 in 12562
1 in 760
1 in 764
1 in 1592
1 in 580
1 in 1192
1 in 7971
1 in 8051
1 in 16777
1 in 6112
1 in 12562
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NPHS2Nephrotic syndrome, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 226
1 in 456
1 in 595
1 in 733
1 in 884
1 in 601
1 in 1216
1 in 1587
1 in 1955
1 in 2357
1 in 543304
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2404
1 in 4864
1 in 6347
1 in 7819
1 in 9429
1 in 904
1 in 1824
1 in 2380
1 in 2932
1 in 3536
1 in 2404
1 in 4864
1 in 6347
1 in 7819
1 in 9429
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NPPAAtrial standstill 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NPR2Acromesomelic dysplasia, Maroteaux typeAutosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
NR0B1Adrenal hypoplasia, congenitalX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 35,000
N/A
N/A
N/A
N/A
<1 in 66,000
N/A
N/A
N/A
N/A
1 in 265694
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
NR1H4Cholestasis, progressive familial intrahepatic, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 1167<1 in 1,000,000<1 in 1,000,000<1 in 4666<1 in 2000<1 in 46661 in 4
NR2E3Enhanced S-cone syndrome (Goldmann-Favre); Retinitis pigmentosa, type 37Autosomal recessive; Autosomal recessive*Caucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 278
1 in 389
1 in 488
1 in 874
1 in 536
1 in 81
1 in 417
1 in 584
1 in 732
1 in 1311
1 in 804
1 in 2700
1 in 463148
1 in 907926
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 874800
1 in 693889
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1666
1 in 2334
1 in 2928
1 in 5244
1 in 3216
1 in 10800
1 in 1112
1 in 1556
1 in 1952
1 in 3496
1 in 2144
1 in 324
1 in 1666
1 in 2334
1 in 2928
1 in 5244
1 in 3216
1 in 10800
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NRLRetinal degeneration, autosomal recessive, clumped pigment typeAutosomal recessive*General population≤1 in 500<1 in 643<1 in 1,000,000<1 in 1,000,000<1 in 2573<1 in 2000<1 in 25731 in 4
NRXN1Pitt-Hopkins-like syndrome, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 834<1 in 1,000,000<1 in 1,000,000<1 in 3334<1 in 2000<1 in 33341 in 4
NSDHLCHILD syndromeX-linkedGeneral population≤1 in 500<1 in 1416666<1 in 1,000,000 - -1 in 4 - -
NSMCE2Seckel syndrome, type 10Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NSMCE3Lung disease, immunodeficiency, and chromosome breakage syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NSUN2Mental retardation, autosomal recessive, type 5Autosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
NT5C2Spastic paraplegia 45, autosomal recessiveAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NT5C3AAnemia, hemolytic, due to UMPH1 deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 5496<1 in 1,000,000<1 in 1,000,000<1 in 21982<1 in 2000<1 in 219821 in 4
NT5ECalcification of joints and arteriesAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
NTHL1Familial adenomatous polyposis, type 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NTRK1Insensitivity to pain, congenital, with anhidrosisAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 1,122
1 in 713
1 in 280
1 in 3539
1 in 2105
<1 in 500
1 in 1,974
1 in 1255
1 in 493
1 in 6229
1 in 3705
1 in 60900
<1 in 1,000,000
<1 in 1,000,000
1 in 551936
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 971407
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7896
1 in 5020
1 in 1971
1 in 24915
1 in 14819
1 in 243600
1 in 4488
1 in 2852
1 in 1120
1 in 14156
1 in 8420
1 in 7308
1 in 7896
1 in 5020
1 in 1971
1 in 24915
1 in 14819
1 in 243600
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
NUBPLMitochondrial complex I deficiency, nuclear type 21Autosomal recessiveGeneral population≤1 in 500<1 in 917<1 in 1,000,000<1 in 1,000,000<1 in 3667<1 in 2000<1 in 36671 in 4
NUP107Nephrotic syndrome, type 11Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NUP62Striatonigral degeneration, infantileAutosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
NUP93Nephrotic syndrome, type 12Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
NYXNight blindness, congenital stationary (complete), type 1A, X-linkedX-linkedGeneral population≤1 in 500<1 in 600000<1 in 1,000,000 - -1 in 4 - -
OATGyrate atrophy of choroid and retinaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 749
1 in 2898
N/A
1 in 905
1 in 1291
1 in 615
1 in 177
1 in 5,071
1 in 19642
N/A
1 in 6134
1 in 8750
1 in 20500
1 in 5900
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 20283
1 in 78568
N/A
1 in 24536
1 in 35000
1 in 82000
1 in 23600
1 in 2996
1 in 11592
N/A
1 in 3620
1 in 5164
1 in 2460
1 in 708
1 in 20283
1 in 78568
N/A
1 in 24536
1 in 35000
1 in 82000
1 in 23600
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
OBSL13M syndrome 2Autosomal recessiveCaucasian/European population1 in 1031 in 2731 in 1124761 in 2981161 in 10921 in 4121 in 10921 in 4
OCA2Oculocutaneous albinism type 2Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 101
N/A
N/A
N/A
N/A
1 in 204
N/A
N/A
N/A
N/A
1 in 82071
N/A
N/A
N/A
N/A
1 in 166710
N/A
N/A
N/A
N/A
1 in 817
N/A
N/A
N/A
N/A
1 in 402
N/A
N/A
N/A
N/A
1 in 817
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
OCLNPseudo-TORCH syndrome, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 786<1 in 1,000,000<1 in 1,000,000<1 in 3144<1 in 2000<1 in 31441 in 4
OCRLLowe Syndrome; Dent disease type 2X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 357,144
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
ODAD1Ciliary dyskinesia, primary, 20Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ODAD2Ciliary dyskinesia, primary, 23Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ODAD3Ciliary dyskinesia, primary, 30Autosomal recessiveGeneral Population1 in 365ReducedReducedReducedReduced1 in 1460Reduced1 in 4
ODAD4Ciliary dyskinesia, primary, 35Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ODAPHAmelogenesis imperfecta, type 2A4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
OFD1Orofaciodigital syndrome, type 1; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome, type 10X-linkedGeneral population≤1 in 500<1 in 1112717<1 in 1,000,000 - -1 in 4 - -
OGDHAlpha-ketoglutarate dehydrogenase deficiencyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
OGTMental retardation, X-linked 106X-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
OPA1Behr syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 1284<1 in 1,000,000<1 in 1,000,000<1 in 5135<1 in 2000<1 in 51351 in 4
OPA33-methylglutaconic aciduria, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 4,808
1 in 500
N/A
N/A
1 in 3349
N/A
1 in 12
1 in 6,010
1 in 625
N/A
N/A
1 in 4186
N/A
1 in 400
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
N/A
1 in 19200
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
N/A
1 in 640000
1 in 24039
1 in 2500
N/A
N/A
1 in 16745
N/A
1 in 1600
1 in 19232
1 in 2000
N/A
N/A
1 in 13396
N/A
1 in 48
1 in 24039
1 in 2500
N/A
N/A
1 in 16745
N/A
1 in 1600
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
OPHN1Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearanceX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500,000
N/A
N/A
N/A
N/A
1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
OPN1LWBlue cone monochromacyX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
OPN1MWBlue cone monochromacyX-linkedGeneral population≤1 in 500ReducedReduced - -1 in 4 - -
OPTNAmyotrophic lateral sclerosis, type 12Autosomal recessiveGeneral population≤1 in 500<1 in 875<1 in 1,000,000<1 in 1,000,000<1 in 3501<1 in 2000<1 in 35011 in 4
ORAI1Immunodeficiency 9Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
ORC1Meier-Gorlin syndrome, type 1Autosomal recessiveGeneral population≤1 in 500<1 in 2249<1 in 1,000,000<1 in 1,000,000<1 in 8995<1 in 2000<1 in 89951 in 4
ORC4Meier-Gorlin syndrome, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
ORC6Meier-Gorlin syndrome, type 3Autosomal recessiveGeneral population≤1 in 500<1 in 800<1 in 1,000,000<1 in 1,000,000<1 in 3201<1 in 2000<1 in 32011 in 4
OSGEPGalloway-Mowat syndrome 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
OSTM1Osteopetrosis, autosomal recessive type 5Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 6,173
N/A
1 in 9197
1 in 6619
N/A
1 in 9,259
N/A
1 in 13796
1 in 9929
N/A
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
N/A
<1 in 1,000,000
<1 in 1,000,000
N/A
1 in 37036
N/A
1 in 55182
1 in 39714
N/A
1 in 24692
N/A
1 in 36788
1 in 26476
N/A
1 in 37036
N/A
1 in 55182
1 in 39714
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
OTCOrnithine transcarbamylase deficiencyX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 37,667
1 in 35000
N/A
N/A
1 in 35000
<1 in 96,000
1 in 89077
N/A
N/A
1 in 89077
1 in 383453
1 in 356306
N/A
N/A
1 in 356306
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
OTOADeafness, autosomal recessive type 22Autosomal recessiveGeneral population≤1 in 500<1 in 1071<1 in 1,000,000<1 in 1,000,000<1 in 4285<1 in 2000<1 in 42851 in 4
OTOFDeafness, autosomal recessive, type 9Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 228
1 in 258
1 in 52
1 in 240
1 in 201
1 in 22,701
1 in 25800
1 in 5200
1 in 24000
1 in 20100
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 90804
1 in 103200
1 in 20800
1 in 96000
1 in 80400
1 in 912
1 in 1032
1 in 208
1 in 960
1 in 804
1 in 90804
1 in 103200
1 in 20800
1 in 96000
1 in 80400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
OTOGDeafness, autosomal recessive 18BAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
OTOGLDeafness, autosomal recessive 84BAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
OTUD6BIntellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomaliesAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
OTULINAutoinflammation, panniculitis, and dermatosis syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
OXCT1Succinyl CoA:3-oxoacid CoA transferase deficiencyAutosomal recessiveGeneral population≤1 in 500<1 in 786<1 in 1,000,000<1 in 1,000,000<1 in 3144<1 in 2000<1 in 31441 in 4
P2RY12Bleeding disorder, platelet-type, type 8Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
P3H1Osteogenesis imperfecta, type 8Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 567
1 in 278
1 in 206
1 in 765
1 in 136
1 in 1,447
1 in 710
1 in 526
1 in 1955
1 in 348
<1 in 1,000,000
1 in 790014
1 in 433790
<1 in 1,000,000
1 in 189070
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 483179
1 in 5790
1 in 2842
1 in 2106
1 in 7820
1 in 1390
1 in 2268
1 in 1112
1 in 824
1 in 3060
1 in 544
1 in 5790
1 in 2842
1 in 2106
1 in 7820
1 in 1390
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
P3H2Myopia, high, with cataract and vitreoretinal degenerationAutosomal recessiveGeneral population≤1 in 500<1 in 723<1 in 1,000,000<1 in 1,000,000<1 in 2890<1 in 2000<1 in 28901 in 4
PADI3Uncombable hair syndromeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PADI6Preimplantation embryonic lethality 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PAHPhenylketonuriaAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 51
1 in 143
1 in 68
1 in 121
1 in 70
≤1 in 17
1 in 1,239
1 in 3575
1 in 1700
1 in 3025
1 in 1750
1 in 1052
1 in 250228
<1 in 1,000,000
1 in 462400
<1 in 1,000,000
1 in 490000
1 in 132814
1 in 6136780
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4955
1 in 14300
1 in 6800
1 in 12100
1 in 7000
1 in 4208
1 in 202
1 in 572
1 in 272
1 in 484
1 in 280
1 in 126
1 in 1324
1 in 14300
1 in 6800
1 in 12100
1 in 7000
1 in 4208
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PAK3Mental retardation, X-linked, type 30X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 45,000
N/A
N/A
N/A
N/A
1 in 90,000
N/A
N/A
N/A
N/A
1 in 359996
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
PALB2Fanconi anemia, complementation group NAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PAM16Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike typeAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PANK2Neurodegeneration with brain iron accumulation type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 700
1 in 845
1 in 655
1 in 427
1 in 1027
1 in 1,175
1 in 1420
1 in 1100
1 in 717
1 in 1725
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4701
1 in 5678
1 in 4402
1 in 2869
1 in 6901
1 in 2800
1 in 3380
1 in 2620
1 in 1708
1 in 4108
1 in 4701
1 in 5678
1 in 4402
1 in 2869
1 in 6901
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PAPSS2Brachyolmia, type 4, with mild epiphyseal and metaphyseal changesAutosomal recessiveGeneral population≤1 in 500<1 in 1500<1 in 1,000,000<1 in 1,000,000<1 in 5998<1 in 2000<1 in 59981 in 4
PARK7Parkinson disease, type 7, autosomal recessive, early-onsetAutosomal recessiveGeneral population≤1 in 500<1 in 1125<1 in 1,000,000<1 in 1,000,000<1 in 4500<1 in 2000<1 in 45001 in 4
PARNDyskeratosis congenita, autosomal recessive 6Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PATL2Oocyte maturation defect 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PAX7Rhabdomyosarcoma 2, alveolarAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PCPyruvate carboxylase deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 251
N/A
N/A
N/A
N/A
1 in 636
N/A
N/A
N/A
N/A
1 in 637368
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 2544
N/A
N/A
N/A
N/A
1 in 1002
N/A
N/A
N/A
N/A
1 in 2544
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PCARERetinitis pigmentosa, type 54Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PCBD1Hyperphenylalaninemia, BH4-deficient, type DAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 984
1 in 1306
1 in 1314
1 in 7638
1 in 169
1 in 1,312
1 in 1741
1 in 1752
1 in 10184
1 in 225
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 152325
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 203100
1 in 5247
1 in 6965
1 in 7008
1 in 40736
1 in 901
1 in 3936
1 in 5224
1 in 5256
1 in 30552
1 in 676
1 in 5247
1 in 6965
1 in 7008
1 in 40736
1 in 901
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PCCAPropionic acidemiaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 636
1 in 393
1 in 419
1 in 507
1 in 429
1 in 1,237
1 in 765
1 in 816
1 in 987
1 in 835
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4948
1 in 3060
1 in 3262
1 in 3947
1 in 3340
1 in 2544
1 in 1572
1 in 1676
1 in 2028
1 in 1716
1 in 4948
1 in 3060
1 in 3262
1 in 3947
1 in 3340
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PCCBPropionic acidemiaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 635
1 in 257
1 in 192
1 in 1490
1 in 688
1 in 1,816
1 in 736
1 in 550
1 in 4265
1 in 1969
<1 in 1,000,000
1 in 756163
1 in 422038
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7262
1 in 2942
1 in 2198
1 in 17058
1 in 7877
1 in 2540
1 in 1028
1 in 768
1 in 5960
1 in 2752
1 in 7262
1 in 2942
1 in 2198
1 in 17058
1 in 7877
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PCDH12Microcephaly, seizures, spasticity, and brain calcificationAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PCDH15Deafness, autosomal recessive, type 23; Usher syndrome, type 1D/F digenicAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 497
1 in 548
1 in 191
1 in 805
1 in 545
≤1 in 72
1 in 1,034
1 in 1142
1 in 398
1 in 1677
1 in 1135
1 in 381
<1 in 1,000,000
<1 in 1,000,000
1 in 304008
<1 in 1,000,000
<1 in 1,000,000
1 in 145386
<1 in 1,000,000
<1 in 1,000,000
1 in 633351
<1 in 1,000,000
<1 in 1,000,000
1 in 581546
1 in 4137
1 in 4567
1 in 1592
1 in 6708
1 in 4542
1 in 1525
1 in 1988
1 in 2192
1 in 764
1 in 3220
1 in 2180
1 in 381
1 in 4137
1 in 4567
1 in 1592
1 in 6708
1 in 4542
1 in 1525
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PCDH19Epileptic encephalopathy, early infantile, type 9X-linkedGeneral population≤1 in 500<1 in 646342<1 in 1,000,000 - -1 in 4 - -
PCK2PEPCK deficiency, mitochondrialAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PCNTMicrocephalic osteodysplastic primordial dwarfism, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 1588<1 in 1,000,000<1 in 1,000,000<1 in 6351<1 in 2000<1 in 63511 in 4
PCSK1Obesity with impaired prohormone processingAutosomal recessiveGeneral population≤1 in 500<1 in 584<1 in 1,000,000<1 in 1,000,000<1 in 2335<1 in 2000<1 in 23351 in 4
PCYT1ASpondylometaphyseal dysplasia with cone-rod dystrophyAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PDE10ADyskinesia, limb and orofacial, infantile-onsetAutosomal recessiveGeneral population≤1 in 500<1 in 1333<1 in 1,000,000<1 in 1,000,000<1 in 5332<1 in 2000<1 in 53321 in 4
PDE6ARetinitis pigmentosa type 43Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
1 in 863
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 3452
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
1 in 3452
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PDE6BRetinitis pigmentosa type 40Autosomal recessiveGeneral population≤1 in 500<1 in 783<1 in 1,000,000<1 in 1,000,000<1 in 3131<1 in 2000<1 in 31311 in 4
PDE6CCone dystrophy type 4Autosomal recessiveGeneral population≤1 in 500<1 in 1305<1 in 1,000,000<1 in 1,000,000<1 in 5221<1 in 2000<1 in 52211 in 4
PDE6GRetinitis pigmentosa type 57Autosomal recessiveGeneral population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
PDE6HRetinal cone dystrophy 3 and achromatopsia 6Autosomal recessive*General population≤1 in 500<1 in 49951<1 in 1,000,000<1 in 1,000,000<1 in 199804<1 in 2000<1 in 1998041 in 4
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyX-linkedGeneral
African/African American
East Asian
South Asian
Latino
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
PDHBPyruvate dehydrogenase E1-beta deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,529
1 in 1352
1 in 9197
1 in 1797
1 in 8128
1 in 4,214
1 in 2253
1 in 15328
1 in 2995
1 in 13547
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 16857
1 in 9013
1 in 61313
1 in 11980
1 in 54187
1 in 10116
1 in 5408
1 in 36788
1 in 7188
1 in 32512
1 in 16857
1 in 9013
1 in 61313
1 in 11980
1 in 54187
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PDHXLacticacidemia due to PDX1 deficiencyAutosomal recessiveCaucasian/European population1 in 15241 in 3301<1 in 1,000,000<1 in 1,000,0001 in 132031 in 60961 in 132031 in 4
PDP1Pyruvate dehydrogenase phosphatase deficiencyAutosomal recessiveCaucasian/European population1 in 46511 in 13951<1 in 1,000,000<1 in 1,000,0001 in 558041 in 186041 in 558041 in 4
PDSS1Coenzyme Q10 deficiency, primary, type 2Autosomal recessiveGeneral population≤1 in 500<1 in 2499<1 in 1,000,000<1 in 1,000,000<1 in 9994<1 in 2000<1 in 99941 in 4
PDSS2Coenzyme Q10 deficiency, primary, type 3Autosomal recessiveGeneral population≤1 in 500<1 in 1250<1 in 1,000,000<1 in 1,000,000<1 in 4999<1 in 2000<1 in 49991 in 4
PDX1Pancreatic agenesis type 1Autosomal recessiveGeneral population≤1 in 500<1 in 1100<1 in 1,000,000<1 in 1,000,000<1 in 4400<1 in 2000<1 in 44001 in 4
PDXKNeuropathy, hereditary motor and sensory, type VIC, with optic atrophy Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PDZD7Deafness, autosomal recessive, type 57; Usher syndrome, type 2C, digenicAutosomal recessive; Digenic inheritance (ADGRV1 gene)General population≤1 in 500<1 in 800<1 in 1,000,000<1 in 1,000,000<1 in 3201<1 in 2000<1 in 32011 in 4
PEPDProlidase deficiencyAutosomal recessiveGeneral population1 in 5001 in 1213<1 in 1,000,000<1 in 1,000,0001 in 48511 in 20001 in 48511 in 4
PET100Mitochondrial complex IV deficiencyAutosomal recessiveGeneral population1 in 500ReducedReducedReducedReduced1 in 2000Reduced1 in 4
PEX1Heimler syndrome type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 191
1 in 366
1 in 153
1 in 556
1 in 601
1 in 19,000
1 in 36600
1 in 15300
1 in 55600
1 in 60100
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 76004
1 in 146400
1 in 61200
1 in 222400
1 in 240400
1 in 764
1 in 1464
1 in 612
1 in 2224
1 in 2404
1 in 76004
1 in 146400
1 in 61200
1 in 222400
1 in 240400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PEX10Peroxisome biogenesis disorder, type 6A (Zellweger syndrome); Peroxisome biogenesis disorder, type 6BAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,287
1 in 952
1 in 2025
1 in 917
1 in 3744
1 in 4,245
1 in 3142
1 in 6683
1 in 3026
1 in 12355
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 16979
1 in 12566
1 in 26730
1 in 12104
1 in 49421
1 in 5148
1 in 3808
1 in 8100
1 in 3668
1 in 14976
1 in 16979
1 in 12566
1 in 26730
1 in 12104
1 in 49421
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PEX11B?Peroxisome biogenesis disorder 14BAutosomal recessiveCaucasian/European population1 in 1419ReducedReducedReducedReduced1 in 5676Reduced1 in 4
PEX12Peroxisome biogenesis disorder type 3A (Zellweger)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 718
1 in 527
1 in 2875
1 in 1278
1 in 552
1 in 71,701
1 in 52700
1 in 287500
1 in 127800
1 in 55200
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 286804
1 in 210800
<1 in 1,000,000
1 in 511200
1 in 220800
1 in 2872
1 in 2108
1 in 11500
1 in 5112
1 in 2208
1 in 286804
1 in 210800
<1 in 1,000,000
1 in 511200
1 in 220800
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PEX13Peroxisome biogenesis disorder, type 11A (Zellweger syndrome); Peroxisome biogenesis disorder, type 11BAutosomal recessiveCaucasian/European population1 in 51851 in 31105<1 in 1,000,000<1 in 1,000,0001 in 1244201 in 207401 in 1244201 in 4
PEX14Peroxisome biogenesis disorder, type 13A (Zellweger syndrome)Autosomal recessiveCaucasian/European population1 in 80091 in 16017<1 in 1,000,000<1 in 1,000,0001 in 640681 in 320361 in 640681 in 4
PEX16Peroxisome biogenesis disorder, type 8A (Zellweger syndrome); Peroxisome biogenesis disorder, type 8BAutosomal recessiveCaucasian/European population1 in 31651 in 4747<1 in 1,000,000<1 in 1,000,0001 in 189881 in 126601 in 189881 in 4
PEX19Peroxisome biogenesis disorder, type 12A (Zellweger syndrome)Autosomal recessiveCaucasian/European population1 in 19211 in 3841<1 in 1,000,000<1 in 1,000,0001 in 153641 in 76841 in 153641 in 4
PEX2Peroxisome biogenesis disorder type 5A (Zellweger)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 1,542
1 in 1741
1 in 2156
1 in 1922
1 in 2798
≤1 in 123
1 in 6,165
1 in 6964
1 in 8624
1 in 7688
1 in 11192
1 in 5318
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 24660
1 in 27856
1 in 34496
1 in 30752
1 in 44768
1 in 21273
1 in 6168
1 in 6964
1 in 8624
1 in 7688
1 in 11192
1 in 638
1 in 24660
1 in 27856
1 in 34496
1 in 30752
1 in 44768
1 in 21273
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PEX26Peroxisome biogenesis disorder type 7A (Zellweger)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 996
1 in 691
1 in 263
1 in 1860
1 in 271
1 in 1,659
1 in 1152
1 in 438
1 in 3100
1 in 452
<1 in 1,000,000
<1 in 1,000,000
1 in 461127
<1 in 1,000,000
1 in 489607
<1 in 1,000,000
<1 in 1,000,000
1 in 768544
<1 in 1,000,000
1 in 816011
1 in 6637
1 in 4607
1 in 1753
1 in 12400
1 in 1807
1 in 3984
1 in 2764
1 in 1052
1 in 7440
1 in 1084
1 in 6637
1 in 4607
1 in 1753
1 in 12400
1 in 1807
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PEX3Peroxisome biogenesis disorder, type 10A (Zellweger syndrome)Autosomal recessiveCaucasian/European population1 in 29681 in 4452<1 in 1,000,000<1 in 1,000,0001 in 178061 in 118721 in 178061 in 4
PEX5Peroxisome biogenesis disorder type 2A (Zellweger)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 914
1 in 2460
1 in 202
1 in 1024
1 in 1937
1 in 2,010
1 in 5412
1 in 444
1 in 2253
1 in 4261
<1 in 1,000,000
<1 in 1,000,000
1 in 359075
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 789965
<1 in 1,000,000
<1 in 1,000,000
1 in 8038
1 in 21648
1 in 1778
1 in 9011
1 in 17046
1 in 3656
1 in 9840
1 in 808
1 in 4096
1 in 7748
1 in 8038
1 in 21648
1 in 1778
1 in 9011
1 in 17046
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PEX6Peroxisome biogenesis disorder, type 4A (Zellweger syndrome); Peroxisome biogenesis disorder, type 4B; Heimler syndrome 2Autosomal recessive; Autosomal recessive*; Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 83
1 in 268
1 in 595
1 in 105
1 in 239
1 in 252
1 in 216
1 in 702
1 in 1558
1 in 275
1 in 626
1 in 843
1 in 71633
1 in 752442
<1 in 1,000,000
1 in 115500
1 in 598410
1 in 853453
1 in 186213
<1 in 1,000,000
<1 in 1,000,000
1 in 302500
<1 in 1,000,000
<1 in 1,000,000
1 in 863
1 in 2808
1 in 6233
1 in 1100
1 in 2504
1 in 3373
1 in 332
1 in 1072
1 in 2380
1 in 420
1 in 956
1 in 1012
1 in 863
1 in 2808
1 in 6233
1 in 1100
1 in 2504
1 in 3373
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PEX7Rhizomelic chondrodysplasia punctata, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 371
1 in 491
1 in 552
1 in 2285
1 in 485
1 in 1,032
1 in 1368
1 in 1538
1 in 6365
1 in 1351
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4127
1 in 5471
1 in 6151
1 in 25461
1 in 5404
1 in 1484
1 in 1964
1 in 2208
1 in 9140
1 in 1940
1 in 4127
1 in 5471
1 in 6151
1 in 25461
1 in 5404
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PFKMGlycogen storage disease, type 7Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 868
1 in 647
1 in 488
1 in 1165
1 in 62
≤1 in 108
1 in 1,843
1 in 1375
1 in 1037
1 in 2476
1 in 132
1 in 5028
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 32674
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 69432
<1 in 1,000,000
1 in 7374
1 in 5500
1 in 4148
1 in 9903
1 in 527
1 in 20112
1 in 3472
1 in 2588
1 in 1952
1 in 4660
1 in 248
1 in 603
1 in 7374
1 in 5500
1 in 4148
1 in 9903
1 in 527
1 in 20112
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PGAM2Glycogen storage disease XAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PGAP1Mental retardation, autosomal recessive 42Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PGAP2Hyperphosphatasia with mental retardation syndrome 3Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PGAP3Hyperphosphatasia with mental retardation syndrome 4Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PGK1Phosphoglycerate kinase 1 deficiencyX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500,000
N/A
N/A
N/A
N/A
1 in 1,000,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
PGM1Congenital disorder of glycosylation, type 1tAutosomal recessiveGeneral population<1 in 500<1 in 1000<1 in 1,000,000<1 in 1,000,000<1 in 4000<1 in 2000<1 in 40001 in 4
PGM3Immunodeficiency 23Autosomal recessiveCaucasian/European population1 in 801ReducedReducedReducedReduced1 in 3204Reduced1 in 4
PHEXHypophosphatemic rickets, X-linked dominantX-linkedGeneral population≤1 in 500<1 in 910714<1 in 1,000,000 - -1 in 4 - -
PHF6Borjeson-Forssman-Lehmann syndromeX-linkedGeneral population≤1 in 500<1 in 700000<1 in 1,000,000 - -1 in 4 - -
PHF8Mental retardation syndrome, X-linked, Siderius typeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 500,000
N/A
N/A
N/A
N/A
1 in 916,000
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
PHGDHNeu-Laxova syndrome, type 1; Phosphoglycerate dehydrogenase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 631
1 in 1639
1 in 1232
1 in 1665
1 in 1311
≤1 in 280
1 in 3,361
1 in 8741
1 in 6571
1 in 8880
1 in 6992
1 in 11536
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 13444
1 in 34965
1 in 26283
1 in 35520
1 in 27968
1 in 46145
1 in 2524
1 in 6556
1 in 4928
1 in 6660
1 in 5244
1 in 1384
1 in 13444
1 in 34965
1 in 26283
1 in 35520
1 in 27968
1 in 46145
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PHKA1Glycogen storage disease, type 9DX-linkedGeneral population≤1 in 500<1 in 833334<1 in 1,000,000 - -1 in 4 - -
PHKA2Glycogen storage disease, type 9A1 and type 9A2X-linkedGeneral population≤1 in 500<1 in 720931<1 in 1,000,000 - -1 in 4 - -
PHKBGlycogen storage disease, type 9BAutosomal recessiveCaucasian/European population1 in 3101 in 6811 in 844192<1 in 1,000,0001 in 27231 in 12401 in 27231 in 4
PHKG2Glycogen storage disease type 9cAutosomal recessiveCaucasian/European population1 in 4761 in 856<1 in 1,000,000<1 in 1,000,0001 in 34241 in 19041 in 34241 in 4
PHOX2AFibrosis of extraocular muscles, congenital, 2Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PHYHRefsum diseaseAutosomal recessiveGeneral population≤1 in 500<1 in 1357<1 in 1,000,000<1 in 1,000,000<1 in 5427<1 in 2000<1 in 54271 in 4
PI4KAPolymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposisAutosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PIBF1Joubert syndrome 33Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PIEZO1Lymphedema, hereditary, type 3Autosomal recessiveGeneral population≤1 in 500<1 in 516<1 in 1,000,000<1 in 1,000,000<1 in 2063<1 in 2000<1 in 20631 in 4
PIEZO2Arthrogryposis, distal, with impaired proprioception and touchAutosomal recessiveGeneral population≤1 in 500<1 in 723<1 in 1,000,000<1 in 1,000,000<1 in 2890<1 in 2000<1 in 28901 in 4
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome, type 2X-linkedGeneral population≤1 in 500<1 in 750000<1 in 1,000,000 - -1 in 4 - -
PIGCGlycosylphosphatidylinositol biosynthesis defect 16Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PIGGMental retardation, autosomal recessive 53Autosomal recessiveGeneral population≤1 in 500ReducedReducedReducedReducedReducedReduced1 in 4
PIGLZunich neuroectodermal syndromeAutosomal recessiveGeneral population≤1 in 500<1 in 3498<1 in 1,000,000<1 in 1,000,000<1 in 13990<1 in 2000