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 Plus residual risk 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
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
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
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
-
-
-
-
-
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
-
-
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
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
-
-
-
-
-
-
-
-
-
-
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
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
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
-
-
-
-
-
-
-
-
-
-
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
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
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
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
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
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
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
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
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
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
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
-
-
-
-
-
-
-
-
-
-
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
PKHD1Polycystic kidney disease type 4Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 66
1 in 66
1 in 119
1 in 154
1 in 99
1 in 106
1 in 266
1 in 269
1 in 485
1 in 628
1 in 404
1 in 3533
1 in 70204
1 in 71016
1 in 230867
1 in 386643
1 in 159786
<1 in 1,000,000
1 in 282863
1 in 289444
1 in 940959
<1 in 1,000,000
1 in 651249
<1 in 1,000,000
1 in 1064
1 in 1076
1 in 1940
1 in 2511
1 in 1614
1 in 14133
1 in 264
1 in 264
1 in 476
1 in 616
1 in 396
1 in 424
1 in 1064
1 in 1076
1 in 1940
1 in 2511
1 in 1614
1 in 14133
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PLA2G6Infantile neuroaxonal dystrophy type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 343
1 in 530
1 in 251
1 in 60
1 in 214
1 in 856
1 in 1325
1 in 628
1 in 150
1 in 535
<1 in 1,000,000
<1 in 1,000,000
1 in 630010
1 in 36000
1 in 457960
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 90000
<1 in 1,000,000
1 in 3424
1 in 5300
1 in 2510
1 in 600
1 in 2140
1 in 1372
1 in 2120
1 in 1004
1 in 240
1 in 856
1 in 3424
1 in 5300
1 in 2510
1 in 600
1 in 2140
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PLOD1Ehlers-Danlos syndrome, kyphoscoliotic type, 1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 159
N/A
N/A
N/A
N/A
1 in 299
N/A
N/A
N/A
N/A
1 in 189844
N/A
N/A
N/A
N/A
1 in 358133
N/A
N/A
N/A
N/A
1 in 1197
N/A
N/A
N/A
N/A
1 in 634
N/A
N/A
N/A
N/A
1 in 1197
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PLP1Pelizaeus-Merzbacher diseaseX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 91,838
N/A
N/A
N/A
N/A
1 in 113,109
N/A
N/A
N/A
N/A
1 in 452435
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
PMM2Congenital disorder of glycosylation, type 1AAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 71
1 in 245
1 in 133
1 in 278
1 in 114
1 in 61
1 in 7,022
1 in 24500
1 in 13300
1 in 27800
1 in 11400
1 in 2033
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 496133
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 28090
1 in 98000
1 in 53200
1 in 111200
1 in 45600
1 in 8133
1 in 285
1 in 980
1 in 532
1 in 1112
1 in 456
1 in 244
1 in 28090
1 in 98000
1 in 53200
1 in 111200
1 in 45600
1 in 8133
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PNPOPyridoxamine 5'-phosphate oxidase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,107
1 in 1846
1 in 1484
1 in 1920
1 in 386
1 in 3,983
1 in 6646
1 in 5342
1 in 6912
1 in 1390
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 15930
1 in 26582
1 in 21370
1 in 27648
1 in 5558
1 in 4428
1 in 7384
1 in 5936
1 in 7680
1 in 1544
1 in 15930
1 in 26582
1 in 21370
1 in 27648
1 in 5558
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
POLGPOLG-related disordersAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 194
N/A
N/A
N/A
N/A
1 in 340
N/A
N/A
N/A
N/A
1 in 264146
N/A
N/A
N/A
N/A
1 in 462328
N/A
N/A
N/A
N/A
1 in 1360
N/A
N/A
N/A
N/A
1 in 777
N/A
N/A
N/A
N/A
1 in 1360
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
POLR1CLeukodystrophy, hypomyelinating, type 11; Treacher Collins syndrome 3Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 1,021
N/A
N/A
N/A
N/A
1 in 1,659
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 6635
N/A
N/A
N/A
N/A
1 in 4084
N/A
N/A
N/A
N/A
1 in 6635
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
POMGNT1Muscular dystrophy-dystroglycanopathy, type 3A (Walker-Warburg syndrome); Type 3B; Type 3C (limb-girdle muscular dystrophy, type 15 [LGMDR15])Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 315
1 in 674
1 in 581
1 in 727
1 in 544
1 in 31,401
1 in 67400
1 in 58100
1 in 72700
1 in 54400
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 125604
1 in 269600
1 in 232400
1 in 290800
1 in 217600
1 in 1260
1 in 2696
1 in 2324
1 in 2908
1 in 2176
1 in 125604
1 in 269600
1 in 232400
1 in 290800
1 in 217600
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
POMT1Muscular dystrophy-dystroglycanopathy, type 1A (Walker-Warburg syndrome); Type 1B; Type 1C (limb-girdle muscular dystrophy, type 11 [LGMD R11])Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 372
1 in 390
1 in 458
1 in 427
1 in 535
1 in 1,708
1 in 1794
1 in 2107
1 in 1964
1 in 2461
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6830
1 in 7176
1 in 8427
1 in 7857
1 in 9844
1 in 1488
1 in 1560
1 in 1832
1 in 1708
1 in 2140
1 in 6830
1 in 7176
1 in 8427
1 in 7857
1 in 9844
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
POMT2Muscular dystrophy-dystroglycanopathy, type 2A (Walker-Warburg syndrome); Type 2B; Type 2C (limb-girdle muscular dystrophy, type 14 [LGMD R14])Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 833
1 in 908
1 in 1274
1 in 833
1 in 267
1 in 7,281
1 in 7945
1 in 11148
1 in 7289
1 in 2336
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 29124
1 in 31780
1 in 44590
1 in 29155
1 in 9345
1 in 3332
1 in 3632
1 in 5096
1 in 3332
1 in 1068
1 in 29124
1 in 31780
1 in 44590
1 in 29155
1 in 9345
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PORAntley-Bixler syndrome with genital anomalies and disordered steroidogenesisAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 268
1 in 278
1 in 105
1 in 417
1 in 563
1 in 1,069
1 in 1112
1 in 420
1 in 1668
1 in 2252
<1 in 1,000,000
<1 in 1,000,000
1 in 176400
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 705600
<1 in 1,000,000
<1 in 1,000,000
1 in 4276
1 in 4448
1 in 1680
1 in 6672
1 in 9008
1 in 1072
1 in 1112
1 in 420
1 in 1668
1 in 2252
1 in 4276
1 in 4448
1 in 1680
1 in 6672
1 in 9008
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
POU1F1Pituitary hormone deficiency, combined, type 1 Autosomal recessive*General
African/African American
East Asian
South Asian
Latino
1 in 32
N/A
N/A
N/A
N/A
1 in 126
N/A
N/A
N/A
N/A
1 in 16133
N/A
N/A
N/A
N/A
1 in 63024
N/A
N/A
N/A
N/A
1 in 502
N/A
N/A
N/A
N/A
1 in 129
N/A
N/A
N/A
N/A
1 in 502
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
POU3F4Deafness, X-linked type 2 (DFNX2)X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 556,112
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
-
-
-
-
-
-
-
-
-
-
PPM1K?Maple syrup urine disease, mild variantAutosomal 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
PPT1Ceroid lipofuscinosis, neuronal, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 488
1 in 628
1 in 918
1 in 641
1 in 1901
1 in 2,165
1 in 2791
1 in 4080
1 in 2849
1 in 8449
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 8662
1 in 11164
1 in 16320
1 in 11396
1 in 33796
1 in 1952
1 in 2512
1 in 3672
1 in 2564
1 in 7604
1 in 8662
1 in 11164
1 in 16320
1 in 11396
1 in 33796
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PQBP1Renpenning syndromeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 50,000
N/A
N/A
N/A
N/A
1 in 107,142
N/A
N/A
N/A
N/A
1 in 428567
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
PRDX1Methylmalonic aciduria and homocystinuria, cblC type, digenicAutosomal recessive, digenic inheritance (MMACHC gene)General
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
PRF1Hemophagocytic lymphohistiocytosis, familial, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 308
1 in 429
1 in 1099
1 in 226
1 in 126
1 in 538
1 in 751
1 in 1923
1 in 396
1 in 221
1 in 663124
<1 in 1,000,000
<1 in 1,000,000
1 in 357532
1 in 111132
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 625681
1 in 194481
1 in 2153
1 in 3003
1 in 7693
1 in 1582
1 in 882
1 in 1232
1 in 1716
1 in 4396
1 in 904
1 in 504
1 in 2153
1 in 3003
1 in 7693
1 in 1582
1 in 882
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PRODHHyperprolinemia, 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
PROP1Pituitary hormone deficiency, combined, type 2Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 84
1 in 45
N/A
N/A
1 in 584
1 in 8,299
1 in 4500
N/A
N/A
1 in 58400
<1 in 1,000,000
1 in 810000
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 33198
1 in 18000
N/A
N/A
1 in 233600
1 in 336
1 in 180
N/A
N/A
1 in 2336
1 in 33198
1 in 18000
N/A
N/A
1 in 233600
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PRPS1PRPS1-related disodersX-linkedGeneral
African/African American
East Asian
South Asian
Latino
<1 in 50,000
N/A
N/A
N/A
N/A
<1 in 221,000
N/A
N/A
N/A
N/A
1 in 885701
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
PSAPCombined SAP deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,039
1 in 1941
N/A
N/A
1 in 884
1 in 3,873
1 in 3688
N/A
N/A
1 in 1680
<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 15493
1 in 14752
N/A
N/A
1 in 6718
1 in 8156
1 in 7764
N/A
N/A
1 in 3536
1 in 15493
1 in 14752
N/A
N/A
1 in 6718
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PTSHyperphenylalaninemia, BH4-deficient, type AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 478
1 in 703
1 in 156
1 in 343
1 in 533
1 in 1,259
1 in 1853
1 in 411
1 in 904
1 in 1405
<1 in 1,000,000
<1 in 1,000,000
1 in 256634
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 676581
<1 in 1,000,000
<1 in 1,000,000
1 in 5034
1 in 7413
1 in 1645
1 in 3617
1 in 5621
1 in 1912
1 in 2812
1 in 624
1 in 1372
1 in 2132
1 in 5034
1 in 7413
1 in 1645
1 in 3617
1 in 5621
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PUS1Myopathy, lactic acidosis, and sideroblastic anemia, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 4,496
1 in 1468
1 in 8209
1 in 178
1 in 1297
<1 in 500
1 in 5,722
1 in 1868
1 in 10448
1 in 227
1 in 1651
1 in 37633
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 161300
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 205291
<1 in 1,000,000
<1 in 1,000,000
1 in 22888
1 in 7473
1 in 41791
1 in 906
1 in 6603
1 in 150533
1 in 17984
1 in 5872
1 in 32836
1 in 712
1 in 5188
1 in 4516
1 in 22888
1 in 7473
1 in 41791
1 in 906
1 in 6603
1 in 150533
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
PYGMMcArdle diseaseAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 206
1 in 220
1 in 368
1 in 366
1 in 147
1 in 120
1 in 641
1 in 686
1 in 1148
1 in 1142
1 in 459
1 in 400
1 in 527854
1 in 604032
<1 in 1,000,000
<1 in 1,000,000
1 in 269680
1 in 192000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 841403
1 in 640000
1 in 2562
1 in 2746
1 in 4593
1 in 4568
1 in 1835
1 in 1600
1 in 824
1 in 880
1 in 1472
1 in 1464
1 in 588
1 in 480
1 in 2562
1 in 2746
1 in 4593
1 in 4568
1 in 1835
1 in 1600
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
QDPRHyperphenylalaninemia, BH4-deficient, type CAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,419
1 in 5766
1 in 9197
1 in 2641
1 in 8124
1 in 5,182
1 in 12356
1 in 19708
1 in 5659
1 in 17409
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 20730
1 in 49423
1 in 78831
1 in 22637
1 in 69634
1 in 9676
1 in 23064
1 in 36788
1 in 10564
1 in 32496
1 in 20730
1 in 49423
1 in 78831
1 in 22637
1 in 69634
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RAB23Carpenter syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 673
1 in 395
N/A
N/A
N/A
1 in 1,681
1 in 988
N/A
N/A
N/A
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
N/A
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
N/A
1 in 6724
1 in 3950
N/A
N/A
N/A
1 in 2692
1 in 1580
N/A
N/A
N/A
1 in 6724
1 in 3950
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RAG1Omenn syndrome; Severe combined immunodeficiency, B cell-negativeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 344
1 in 441
1 in 523
1 in 639
1 in 1109
1 in 614
1 in 788
1 in 934
1 in 1141
1 in 1980
1 in 844176
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2454
1 in 3150
1 in 3736
1 in 4564
1 in 7921
1 in 1376
1 in 1764
1 in 2092
1 in 2556
1 in 4436
1 in 2454
1 in 3150
1 in 3736
1 in 4564
1 in 7921
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RAG2Omenn syndrome; Severe combined immunodeficiency, B cell-negativeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 1,925
1 in 953
N/A
1 in 962
N/A
1 in 821
1 in 3,721
1 in 1842
N/A
1 in 1860
N/A
1 in 82100
<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
<1 in 1,000,000
N/A
<1 in 1,000,000
N/A
<1 in 1,000,000
1 in 14883
1 in 7370
N/A
1 in 7439
N/A
1 in 328400
1 in 7700
1 in 3812
N/A
1 in 3848
N/A
1 in 3284
1 in 14883
1 in 7370
N/A
1 in 7439
N/A
1 in 328400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RAPSNFetal akinesia deformation sequence, type 2; Myasthenic syndrome, congenital, type 11, associated with AChR deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 165
1 in 1255
1 in 471
1 in 549
1 in 429
1 in 253
1 in 312
1 in 2378
1 in 892
1 in 1040
1 in 813
1 in 25300
1 in 205746
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 388719
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1247
1 in 9512
1 in 3570
1 in 4161
1 in 3251
1 in 101200
1 in 660
1 in 5020
1 in 1884
1 in 2196
1 in 1716
1 in 1012
1 in 1247
1 in 9512
1 in 3570
1 in 4161
1 in 3251
1 in 101200
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RARS2Pontocerebellar hypoplasia, type 6Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 269
1 in 109
1 in 70
1 in 260
1 in 158
1 in 89
1 in 365
1 in 148
1 in 95
1 in 353
1 in 214
1 in 2967
1 in 392433
1 in 64497
1 in 26600
1 in 366971
1 in 135519
<1 in 1,000,000
1 in 532066
1 in 87531
1 in 36100
1 in 498033
1 in 183918
<1 in 1,000,000
1 in 1459
1 in 592
1 in 380
1 in 1411
1 in 858
1 in 11867
1 in 1076
1 in 436
1 in 280
1 in 1040
1 in 632
1 in 356
1 in 1459
1 in 592
1 in 380
1 in 1411
1 in 858
1 in 11867
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RAXIsolated microphthalmia, type 3Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 159
N/A
N/A
N/A
N/A
1 in 475
N/A
N/A
N/A
N/A
1 in 302100
N/A
N/A
N/A
N/A
1 in 902500
N/A
N/A
N/A
N/A
1 in 1900
N/A
N/A
N/A
N/A
1 in 636
N/A
N/A
N/A
N/A
1 in 1900
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RDH12Leber congenital amaurosis, type 13Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 456
1 in 302
1 in 877
1 in 549
1 in 290
1 in 696
1 in 461
1 in 1340
1 in 839
1 in 443
<1 in 1,000,000
1 in 557358
<1 in 1,000,000
<1 in 1,000,000
1 in 513944
<1 in 1,000,000
1 in 851519
<1 in 1,000,000
<1 in 1,000,000
1 in 785193
1 in 2785
1 in 1846
1 in 5359
1 in 3355
1 in 1772
1 in 1824
1 in 1208
1 in 3508
1 in 2196
1 in 1160
1 in 2785
1 in 1846
1 in 5359
1 in 3355
1 in 1772
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RMRPAnauxetic dysplasia, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 143
1 in 303
1 in 413
1 in 294
1 in 719
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 572
1 in 1212
1 in 1652
1 in 1176
1 in 2876
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
RNASEH2CAicardi-Goutieres syndrome, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,525
1 in 4272
1 in 2928
1 in 374
1 in 2703
1 in 3,557
1 in 9968
1 in 6832
1 in 873
1 in 6307
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<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 39872
1 in 27328
1 in 3491
1 in 25228
1 in 6100
1 in 17088
1 in 11712
1 in 1496
1 in 10812
1 in 14228
1 in 39872
1 in 27328
1 in 3491
1 in 25228
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RP2Retinitis pigmentosa, type 2, X-linkedX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 177,778
N/A
N/A
N/A
N/A
1 in 249,736
N/A
N/A
N/A
N/A
1 in 998943
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
RPE65RPE65-related Leber congenital amaurosis/early-onset severe retinal dystrophy Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 366
1 in 190
1 in 289
1 in 265
1 in 345
<1 in 500
1 in 90
1 in 496
1 in 258
1 in 392
1 in 360
1 in 468
1 in 164167
1 in 3000
1 in 726667
1 in 195971
1 in 453400
1 in 381221
1 in 646136
<1 in 1,000,000
<1 in 1,000,000
1 in 985482
1 in 265961
1 in 615328
1 in 517372
1 in 876898
<1 in 1,000,000
<1 in 1,000,000
1 in 1985
1 in 1031
1 in 1569
1 in 1439
1 in 1873
1 in 656667
1 in 12000
1 in 1464
1 in 760
1 in 1156
1 in 1060
1 in 1380
1 in 19700
1 in 360
1 in 1985
1 in 1031
1 in 1569
1 in 1439
1 in 1873
1 in 656667
1 in 12000
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RPGRRetinitis pigmentosa, type 3, X-linked; Cone-rod dystrophy, X-linked, 1X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 31,373
N/A
N/A
N/A
N/A
1 in 35,705
N/A
N/A
N/A
N/A
1 in 142819
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
RPGRIP1LJoubert syndrome, type 7; Meckel syndrome, type 5; COACH syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 319
1 in 257
1 in 197
1 in 528
1 in 619
1 in 860
1 in 694
1 in 532
1 in 1426
1 in 1671
<1 in 1,000,000
1 in 713329
1 in 419137
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3438
1 in 2776
1 in 2128
1 in 5702
1 in 6685
1 in 1276
1 in 1028
1 in 788
1 in 2112
1 in 2476
1 in 3438
1 in 2776
1 in 2128
1 in 5702
1 in 6685
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
RS1RetinoschisisX-linkedCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 25,000
1 in 25000
N/A
N/A
1 in 25000
1 in 44,241
1 in 44242
N/A
N/A
1 in 44242
1 in 176965
1 in 176968
N/A
N/A
1 in 176968
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
RTEL1Dyskeratosis congenita, autosomal recessive type 5Autosomal recessive*Caucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 800
1 in 756
1 in 385
1 in 730
1 in 1385
≤1 in 165
N/A
N/A
N/A
N/A
N/A
1 in 6068
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
<1 in 1,000,000
N/A
N/A
N/A
N/A
N/A
1 in 24272
1 in 3200
1 in 3024
1 in 1540
1 in 2920
1 in 5540
1 in 728
N/A
N/A
N/A
N/A
N/A
1 in 24272
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SACSSpastic ataxia, Charlevoix-Saguenay, typeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 100
1 in 201
1 in 338
1 in 383
1 in 309
1 in 146
1 in 295
1 in 496
1 in 562
1 in 453
1 in 58502
1 in 237108
1 in 670481
1 in 860896
1 in 560364
1 in 85561
1 in 347887
1 in 983739
<1 in 1,000,000
1 in 822173
1 in 585
1 in 1180
1 in 1984
1 in 2248
1 in 1813
1 in 400
1 in 804
1 in 1352
1 in 1532
1 in 1236
1 in 585
1 in 1180
1 in 1984
1 in 2248
1 in 1813
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SAGOguchi disease, 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
SAMHD1Aicardi-Goutieres syndrome, type 5Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 610
1 in 2428
1 in 355
1 in 3837
1 in 2032
1 in 1,147
1 in 4570
1 in 668
1 in 7223
1 in 3825
<1 in 1,000,000
<1 in 1,000,000
1 in 948894
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4589
1 in 18281
1 in 2673
1 in 28890
1 in 15300
1 in 2440
1 in 9712
1 in 1420
1 in 15348
1 in 8128
1 in 4589
1 in 18281
1 in 2673
1 in 28890
1 in 15300
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SBDSShwachman-Diamond syndromeAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 224
N/A
N/A
N/A
N/A
1 in 804
N/A
N/A
N/A
N/A
1 in 720900
N/A
N/A
N/A
N/A
<1 in 1,000,000
N/A
N/A
N/A
N/A
1 in 3217
N/A
N/A
N/A
N/A
1 in 896
N/A
N/A
N/A
N/A
1 in 3217
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SEPSECSPontocerebellar hypoplasia, type 2DAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 656
1 in 711
1 in 154
1 in 470
1 in 672
<1 in 500
1 in 41
1 in 743
1 in 806
1 in 175
1 in 533
1 in 762
1 in 55500
1 in 1367
<1 in 1,000,000
<1 in 1,000,000
1 in 107513
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 224133
<1 in 1,000,000
<1 in 1,000,000
1 in 121848
<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 3223
1 in 698
1 in 2131
1 in 3046
1 in 222000
1 in 5467
1 in 2624
1 in 2844
1 in 616
1 in 1880
1 in 2688
1 in 6660
1 in 164
1 in 2973
1 in 3223
1 in 698
1 in 2131
1 in 3046
1 in 222000
1 in 5467
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SERPINA1Alpha-1 antitrypsin deficiencyAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 24
1 in 35
N/A
N/A
1 in 35
<1 in 469
1 in 700
N/A
N/A
1 in 700
1 in 45754
1 in 98000
N/A
N/A
1 in 98000
1 in 879453
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
1 in 1876
1 in 2800
N/A
N/A
1 in 2800
1 in 98
1 in 140
N/A
N/A
1 in 140
1 in 1876
1 in 2800
N/A
N/A
1 in 2800
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SGCALimb-girdle muscular dystrophy, type 3 (LGMD R3)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 288
1 in 427
1 in 2202
1 in 1539
1 in 951
1 in 1,938
1 in 2882
1 in 14864
1 in 10388
1 in 6419
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7753
1 in 11529
1 in 59454
1 in 41553
1 in 25677
1 in 1152
1 in 1708
1 in 8808
1 in 6156
1 in 3804
1 in 7753
1 in 11529
1 in 59454
1 in 41553
1 in 25677
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SGCBLimb-girdle muscular dystrophy, type 4 (LGMD R4)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 628
1 in 653
1 in 1437
1 in 373
1 in 3358
1 in 2,330
1 in 2425
1 in 5337
1 in 1385
1 in 12473
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 9319
1 in 9702
1 in 21350
1 in 5542
1 in 49890
1 in 2512
1 in 2612
1 in 5748
1 in 1492
1 in 13432
1 in 9319
1 in 9702
1 in 21350
1 in 5542
1 in 49890
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SGCDLimb-girdle muscular dystrophy, type 6 (LGMD R6)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 3,766
1 in 3799
1 in 6454
1 in 6537
1 in 1897
1 in 11,296
1 in 11397
1 in 19362
1 in 19611
1 in 5691
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 45184
1 in 45588
1 in 77448
1 in 78444
1 in 22764
1 in 15064
1 in 15196
1 in 25816
1 in 26148
1 in 7588
1 in 45184
1 in 45588
1 in 77448
1 in 78444
1 in 22764
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SGCGLimb-girdle muscular dystrophy, type 5 (LGMD R5)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,132
1 in 828
1 in 380
1 in 2955
1 in 2105
1 in 5,468
1 in 4002
1 in 1837
1 in 14283
1 in 10174
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 21870
1 in 16008
1 in 7347
1 in 57130
1 in 40697
1 in 4528
1 in 3312
1 in 1520
1 in 11820
1 in 8420
1 in 21870
1 in 16008
1 in 7347
1 in 57130
1 in 40697
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SGSHMucopolysaccharidosis, type 3A (Sanfilippo A)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 253
1 in 470
1 in 216
1 in 459
1 in 436
1 in 1,261
1 in 2350
1 in 1080
1 in 2295
1 in 2180
<1 in 1,000,000
<1 in 1,000,000
1 in 933120
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5044
1 in 9400
1 in 4320
1 in 9180
1 in 8720
1 in 1012
1 in 1880
1 in 864
1 in 1836
1 in 1744
1 in 5044
1 in 9400
1 in 4320
1 in 9180
1 in 8720
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SH2D1ALymphoproliferative syndrome, X-linked, type 1X-linkedGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500,000
N/A
N/A
N/A
N/A
<1 in 829,000
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
-
-
-
-
-
-
-
-
-
-
SH3TC2Charcot-Marie-Tooth disease, type 4CAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 72
N/A
N/A
N/A
N/A
1 in 184
N/A
N/A
N/A
N/A
1 in 52869
N/A
N/A
N/A
N/A
1 in 134794
N/A
N/A
N/A
N/A
1 in 734
N/A
N/A
N/A
N/A
1 in 288
N/A
N/A
N/A
N/A
1 in 734
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC12A3Gitelman syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 73
1 in 138
1 in 28
1 in 145
1 in 131
1 in 97
1 in 184
1 in 37
1 in 193
1 in 175
1 in 28324
1 in 101568
1 in 4181
1 in 112133
1 in 91525
1 in 37636
1 in 135424
1 in 5575
1 in 149511
1 in 122034
1 in 388
1 in 736
1 in 149
1 in 773
1 in 699
1 in 292
1 in 552
1 in 112
1 in 580
1 in 524
1 in 388
1 in 736
1 in 149
1 in 773
1 in 699
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC12A6Agenesis of the corpus callosum with peripheral neuropathyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,515
1 in 500
1 in 2872
1 in 2564
1 in 764
1 in 151,401
1 in 50000
1 in 287200
1 in 256400
1 in 76400
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 605604
1 in 200000
<1 in 1,000,000
<1 in 1,000,000
1 in 305600
1 in 6060
1 in 2000
1 in 11488
1 in 10256
1 in 3056
1 in 605604
1 in 200000
<1 in 1,000,000
<1 in 1,000,000
1 in 305600
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC16A2Allan-Herndon-Dudley syndromeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 50,000
N/A
N/A
N/A
N/A
1 in 67,647
N/A
N/A
N/A
N/A
1 in 270587
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
SLC17A5Salla diseaseAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 328
1 in 853
1 in 1723
1 in 3847
1 in 777
1 in 32,701
1 in 85300
1 in 172300
1 in 384700
1 in 77700
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 130804
1 in 341200
1 in 689200
<1 in 1,000,000
1 in 310800
1 in 1312
1 in 3412
1 in 6892
1 in 15388
1 in 3108
1 in 130804
1 in 341200
1 in 689200
<1 in 1,000,000
1 in 310800
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC19A2Thiamine-responsive megaloblastic anemia 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 888
1 in 889
N/A
N/A
1 in 889
<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 3552
1 in 3556
N/A
N/A
1 in 3556
1 in 2000
1 in 2000
N/A
N/A
1 in 2000
1 in 3552
1 in 3556
N/A
N/A
1 in 3556
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC22A5Carnitine deficiency, systemic primaryAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 251
1 in 98
1 in 69
1 in 51
1 in 268
1 in 544
1 in 213
1 in 150
1 in 111
1 in 582
1 in 546162
1 in 83437
1 in 41363
1 in 22597
1 in 623991
<1 in 1,000,000
1 in 181222
1 in 89837
1 in 49079
<1 in 1,000,000
1 in 2176
1 in 851
1 in 599
1 in 443
1 in 2328
1 in 1004
1 in 392
1 in 276
1 in 204
1 in 1072
1 in 2176
1 in 851
1 in 599
1 in 443
1 in 2328
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC25A13Citrullinemia, type 2, neonatal-onset; Citrullinemia, type 2, adult-onsetAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 619
1 in 435
1 in 48
1 in 496
1 in 990
1 in 1,426
1 in 1003
1 in 111
1 in 1143
1 in 2282
<1 in 1,000,000
<1 in 1,000,000
1 in 21244
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 48968
<1 in 1,000,000
<1 in 1,000,000
1 in 5702
1 in 4011
1 in 443
1 in 4573
1 in 9128
1 in 2476
1 in 1740
1 in 192
1 in 1984
1 in 3960
1 in 5702
1 in 4011
1 in 443
1 in 4573
1 in 9128
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,283
1 in 898
1 in 302
1 in 1924
1 in 1119
1 in 4,820
1 in 3375
1 in 1135
1 in 7232
1 in 4206
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 19279
1 in 13502
1 in 4541
1 in 28928
1 in 16824
1 in 5132
1 in 3592
1 in 1208
1 in 7696
1 in 4476
1 in 19279
1 in 13502
1 in 4541
1 in 28928
1 in 16824
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC25A20Carnitine-acylcarnitine translocase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,988
1 in 1902
1 in 485
1 in 2188
1 in 808
1 in 7,949
1 in 7608
1 in 1940
1 in 8752
1 in 3232
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 31796
1 in 30432
1 in 7760
1 in 35008
1 in 12928
1 in 7952
1 in 7608
1 in 1940
1 in 8752
1 in 3232
1 in 31796
1 in 30432
1 in 7760
1 in 35008
1 in 12928
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC26A2Achondrogenesis, type 1B (diastrophic dysplasia)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 129
1 in 341
1 in 510
1 in 853
1 in 248
1 in 428
1 in 1137
1 in 1700
1 in 2843
1 in 827
1 in 220676
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 820053
1 in 731595
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1711
1 in 4547
1 in 6800
1 in 11373
1 in 3307
1 in 516
1 in 1364
1 in 2040
1 in 3412
1 in 992
1 in 1711
1 in 4547
1 in 6800
1 in 11373
1 in 3307
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC26A3Diarrhea 1, secretory chloride, congenitalAutosomal 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
SLC26A4Deafness, autosomal recessive, type 4; Pendred syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 88
1 in 76
1 in 31
1 in 60
1 in 135
1 in 403
1 in 351
1 in 143
1 in 277
1 in 624
1 in 141885
1 in 106778
1 in 17766
1 in 66551
1 in 336916
1 in 649897
1 in 493487
1 in 82105
1 in 307575
<1 in 1,000,000
1 in 1612
1 in 1405
1 in 573
1 in 1109
1 in 2496
1 in 352
1 in 304
1 in 124
1 in 240
1 in 540
1 in 1612
1 in 1405
1 in 573
1 in 1109
1 in 2496
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC35A1Congenital disorder of glycosylation, type 2FAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 1,500
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 5998
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 5998
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC35A3?Arthrogryposis, mental retardation, and seizuresAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 4,537
1 in 3999
N/A
1 in 3996
1 in 3356
1 in 453
1 in 6,805
1 in 5999
N/A
1 in 5994
1 in 5034
1 in 15100
<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 27220
1 in 23994
N/A
1 in 23976
1 in 20136
1 in 60400
1 in 18148
1 in 15996
N/A
1 in 15984
1 in 13424
1 in 1812
1 in 27220
1 in 23994
N/A
1 in 23976
1 in 20136
1 in 60400
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC35C1Congenital disorder of glycosylation, type 2CAutosomal 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
SLC35D1Schneckenbecken dysplasiaAutosomal 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
SLC37A4Glycogen storage disease, type 1BAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 597
1 in 1414
1 in 511
1 in 821
1 in 979
1 in 1,677
1 in 3646
1 in 1318
1 in 2117
1 in 2525
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6709
1 in 14586
1 in 5271
1 in 8469
1 in 10099
1 in 2388
1 in 5656
1 in 2044
1 in 3284
1 in 3916
1 in 6709
1 in 14586
1 in 5271
1 in 8469
1 in 10099
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC39A4Acrodermatitis enteropathicaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 316
1 in 421
1 in 1248
1 in 1099
1 in 1300
1 in 335
1 in 468
1 in 1387
1 in 1221
1 in 1444
1 in 422845
1 in 787738
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 447640
1 in 875264
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1338
1 in 1871
1 in 5547
1 in 4884
1 in 5778
1 in 1264
1 in 1684
1 in 4992
1 in 4396
1 in 5200
1 in 1338
1 in 1871
1 in 5547
1 in 4884
1 in 5778
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC3A1CystinuriaAutosomal recessive*General
African/African American
East Asian
South Asian
Latino
1 in 42
N/A
N/A
N/A
N/A
1 in 84
N/A
N/A
N/A
N/A
1 in 14171
N/A
N/A
N/A
N/A
1 in 28008
N/A
N/A
N/A
N/A
1 in 335
N/A
N/A
N/A
N/A
1 in 169
N/A
N/A
N/A
N/A
1 in 335
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC45A2Albinism, oculocutaneous, type 4Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 1,600
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 6398
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 6398
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC46A1Folate malabsorption, hereditaryAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,468
1 in 2698
1 in 1773
1 in 1256
1 in 3964
1 in 13,981
1 in 15289
1 in 10047
1 in 7117
1 in 22463
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 55923
1 in 61155
1 in 40188
1 in 28469
1 in 89851
1 in 9872
1 in 10792
1 in 7092
1 in 5024
1 in 15856
1 in 55923
1 in 61155
1 in 40188
1 in 28469
1 in 89851
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC4A11Corneal endothelial dystrophy, autosomal recessiveAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 806
1 in 373
1 in 316
1 in 1183
1 in 770
1 in 1,921
1 in 889
1 in 754
1 in 2821
1 in 1836
<1 in 1,000,000
<1 in 1,000,000
1 in 952473
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7682
1 in 3558
1 in 3014
1 in 11284
1 in 7345
1 in 3224
1 in 1492
1 in 1264
1 in 4732
1 in 3080
1 in 7682
1 in 3558
1 in 3014
1 in 11284
1 in 7345
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC5A5Thyroid dyshormonogenesis, type 1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 72
N/A
N/A
N/A
N/A
1 in 96
N/A
N/A
N/A
N/A
1 in 27552
N/A
N/A
N/A
N/A
1 in 36608
N/A
N/A
N/A
N/A
1 in 383
N/A
N/A
N/A
N/A
1 in 288
N/A
N/A
N/A
N/A
1 in 383
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC6A19Hartnup disorderAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 87
N/A
N/A
N/A
N/A
1 in 124
N/A
N/A
N/A
N/A
1 in 43207
N/A
N/A
N/A
N/A
1 in 61512
N/A
N/A
N/A
N/A
1 in 496
N/A
N/A
N/A
N/A
1 in 348
N/A
N/A
N/A
N/A
1 in 496
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC6A8Cerebral creatine deficiency syndrome, type 1X-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
-
-
-
-
-
-
-
-
-
-
SLC7A7Lysinuric protein intoleranceAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 522
1 in 595
1 in 724
1 in 1283
1 in 2821
1 in 1,490
1 in 1700
1 in 2069
1 in 3666
1 in 8060
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 5958
1 in 6800
1 in 8274
1 in 14663
1 in 32240
1 in 2088
1 in 2380
1 in 2896
1 in 5132
1 in 11284
1 in 5958
1 in 6800
1 in 8274
1 in 14663
1 in 32240
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SLC7A9CystinuriaAutosomal recessive*General
African/African American
East Asian
South Asian
Latino
1 in 42
N/A
N/A
N/A
N/A
1 in 48
N/A
N/A
N/A
N/A
1 in 8208
N/A
N/A
N/A
N/A
1 in 9395
N/A
N/A
N/A
N/A
1 in 194
N/A
N/A
N/A
N/A
1 in 169
N/A
N/A
N/A
N/A
1 in 194
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SMARCAL1Schimke immunoosseous dysplasiaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 451
1 in 699
1 in 561
1 in 2565
1 in 2123
1 in 970
1 in 1506
1 in 1208
1 in 5525
1 in 4573
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3881
1 in 6022
1 in 4833
1 in 22098
1 in 18290
1 in 1804
1 in 2796
1 in 2244
1 in 10260
1 in 8492
1 in 3881
1 in 6022
1 in 4833
1 in 22098
1 in 18290
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SMN1Spinal muscular atrophyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 36
1 in 72
1 in 53
1 in 103
1 in 68
1 in 53
1 in 869
1 in 244
1 in 757
1 in 792
1 in 680
1 in 565
1 in 124122
1 in 70292
1 in 160514
1 in 326431
1 in 184960
1 in 115013
<1 in 1,000,000
1 in 238276
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3475
1 in 976
1 in 3029
1 in 3169
1 in 2720
1 in 2261
1 in 143
1 in 288
1 in 212
1 in 412
1 in 272
1 in 203
1 in 3475
1 in 976
1 in 3029
1 in 3169
1 in 2720
1 in 2261
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SMPD1Niemann-Pick disease, type A; Niemann-Pick disease, type BAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 350
1 in 120
1 in 81
1 in 327
1 in 106
1 in 103
1 in 1,556
1 in 535
1 in 361
1 in 1457
1 in 472
1 in 3366
<1 in 1,000,000
1 in 256582
1 in 116905
<1 in 1,000,000
1 in 200205
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 520759
<1 in 1,000,000
1 in 891823
<1 in 1,000,000
1 in 6223
1 in 2138
1 in 1443
1 in 5827
1 in 1889
1 in 13463
1 in 1400
1 in 480
1 in 324
1 in 1308
1 in 424
1 in 404
1 in 6223
1 in 2138
1 in 1443
1 in 5827
1 in 1889
1 in 13463
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SPG11Amyotrophic lateral sclerosis, type 5, juvenileAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 192
1 in 232
1 in 297
1 in 267
1 in 64
1 in 467
1 in 566
1 in 725
1 in 652
1 in 156
1 in 358757
1 in 525425
1 in 861088
1 in 695916
1 in 39985
1 in 872845
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 97582
1 in 1869
1 in 2265
1 in 2899
1 in 2606
1 in 625
1 in 768
1 in 928
1 in 1188
1 in 1068
1 in 256
1 in 1869
1 in 2265
1 in 2899
1 in 2606
1 in 625
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SPG7Spastic paraplegia, type 7, autosomal recessiveAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 80
N/A
N/A
N/A
N/A
1 in 183
N/A
N/A
N/A
N/A
1 in 58265
N/A
N/A
N/A
N/A
1 in 133654
N/A
N/A
N/A
N/A
1 in 731
N/A
N/A
N/A
N/A
1 in 319
N/A
N/A
N/A
N/A
1 in 731
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SRD5A246,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (pseudovaginal perineoscrotal hypospadias)Autosomal 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
ST3GAL5Salt and pepper developmental regression 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
STARLipoid adrenal hyperplasiaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,147
1 in 964
1 in 364
1 in 1399
1 in 731
1 in 14,326
1 in 12050
1 in 4550
1 in 17488
1 in 9138
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 57304
1 in 48200
1 in 18200
1 in 69950
1 in 36550
1 in 4588
1 in 3856
1 in 1456
1 in 5596
1 in 2924
1 in 57304
1 in 48200
1 in 18200
1 in 69950
1 in 36550
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SUMF1Multiple sulfatase deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 696
1 in 406
1 in 1437
1 in 834
1 in 1525
≤1 in 279
1 in 2,665
1 in 1556
1 in 5509
1 in 3197
1 in 5846
1 in 9937
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 10661
1 in 6225
1 in 22034
1 in 12788
1 in 23383
1 in 39746
1 in 2784
1 in 1624
1 in 5748
1 in 3336
1 in 6100
1 in 1192
1 in 10661
1 in 6225
1 in 22034
1 in 12788
1 in 23383
1 in 39746
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SURF1Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 191
1 in 256
1 in 61
1 in 302
1 in 89
1 in 329
1 in 441
1 in 105
1 in 521
1 in 153
1 in 251040
1 in 451972
1 in 25662
1 in 628993
1 in 54628
1 in 431876
1 in 779263
1 in 44245
<1 in 1,000,000
1 in 94185
1 in 1314
1 in 1766
1 in 421
1 in 2083
1 in 614
1 in 764
1 in 1024
1 in 244
1 in 1208
1 in 356
1 in 1314
1 in 1766
1 in 421
1 in 2083
1 in 614
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
SYN1Epilepsy, X-linked, with variable learning disabilities and behavior disordersX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 45,000
N/A
N/A
N/A
N/A
1 in 55,588
N/A
N/A
N/A
N/A
1 in 222352
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
TATTyrosinemia, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 2,190
1 in 5587
1 in 4450
1 in 2190
1 in 8126
1 in 5,352
1 in 13657
1 in 10878
1 in 5353
1 in 19864
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 21408
1 in 54628
1 in 43511
1 in 21413
1 in 79454
1 in 8760
1 in 22348
1 in 17800
1 in 8760
1 in 32504
1 in 21408
1 in 54628
1 in 43511
1 in 21413
1 in 79454
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TCIRG1Osteopetrosis, autosomal recessive, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 399
1 in 418
1 in 323
1 in 749
1 in 414
≤1 in 350
1 in 1,195
1 in 1254
1 in 969
1 in 2247
1 in 1242
1 in 4087
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4780
1 in 5016
1 in 3876
1 in 8988
1 in 4968
1 in 16347
1 in 1596
1 in 1672
1 in 1292
1 in 2996
1 in 1656
1 in 1635
1 in 4780
1 in 5016
1 in 3876
1 in 8988
1 in 4968
1 in 16347
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TECPR2Spastic paraplegia, type 49, autosomal recessiveAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 1,946
1 in 5649
1 in 823
1 in 5103
1 in 1983
1 in 152
N/A
N/A
N/A
N/A
N/A
1 in 5067
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
<1 in 1,000,000
N/A
N/A
N/A
N/A
N/A
1 in 20267
1 in 7784
1 in 22596
1 in 3292
1 in 20412
1 in 7932
1 in 608
N/A
N/A
N/A
N/A
N/A
1 in 20267
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TFR2Hemochromatosis, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 604
1 in 761
1 in 2749
1 in 1259
1 in 378
1 in 1,885
1 in 2378
1 in 8591
1 in 3934
1 in 1181
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 7542
1 in 9513
1 in 34363
1 in 15738
1 in 4725
1 in 2416
1 in 3044
1 in 10996
1 in 5036
1 in 1512
1 in 7542
1 in 9513
1 in 34363
1 in 15738
1 in 4725
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TGThyroid dyshormonogenesis, type 3Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 159
N/A
N/A
N/A
N/A
1 in 268
N/A
N/A
N/A
N/A
1 in 170210
N/A
N/A
N/A
N/A
1 in 286493
N/A
N/A
N/A
N/A
1 in 1071
N/A
N/A
N/A
N/A
1 in 636
N/A
N/A
N/A
N/A
1 in 1071
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TGM1Ichthyosis, congenital, autosomal recessive, type 1Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 186
1 in 205
1 in 279
1 in 79
1 in 562
1 in 758
1 in 839
1 in 1141
1 in 323
1 in 2299
1 in 563817
1 in 687682
<1 in 1,000,000
1 in 102125
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 417786
<1 in 1,000,000
1 in 3031
1 in 3355
1 in 4565
1 in 1293
1 in 9196
1 in 744
1 in 820
1 in 1116
1 in 316
1 in 2248
1 in 3031
1 in 3355
1 in 4565
1 in 1293
1 in 9196
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
THSegawa syndrome, recessiveAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 856
1 in 809
1 in 306
1 in 2145
1 in 1121
1 in 2,566
1 in 2427
1 in 918
1 in 6435
1 in 3363
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 10264
1 in 9708
1 in 3672
1 in 25740
1 in 13452
1 in 3424
1 in 3236
1 in 1224
1 in 8580
1 in 4484
1 in 10264
1 in 9708
1 in 3672
1 in 25740
1 in 13452
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
THOC2Mental retardation, X-linked 12X-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
-
-
-
-
-
-
-
-
-
-
TMEM216Joubert syndrome, type 2; Meckel syndrome, type 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 1,521
1 in 3364
N/A
1 in 3526
1 in 2035
1 in 92
1 in 152,001
1 in 336400
N/A
1 in 352600
1 in 203500
1 in 9200
<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 608004
<1 in 1,000,000
N/A
<1 in 1,000,000
1 in 814000
1 in 36800
1 in 6084
1 in 13456
N/A
1 in 14104
1 in 8140
1 in 368
1 in 608004
<1 in 1,000,000
N/A
<1 in 1,000,000
1 in 814000
1 in 36800
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TMEM67Joubert syndrome, type 6; Meckel syndrome, type 3; COACH syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 147
1 in 233
1 in 132
1 in 206
1 in 309
1 in 284
1 in 451
1 in 256
1 in 399
1 in 599
1 in 166919
1 in 420740
1 in 135036
1 in 328879
1 in 739978
1 in 322340
1 in 815183
1 in 261632
1 in 637203
<1 in 1,000,000
1 in 1136
1 in 1806
1 in 1023
1 in 1597
1 in 2395
1 in 588
1 in 932
1 in 528
1 in 824
1 in 1236
1 in 1136
1 in 1806
1 in 1023
1 in 1597
1 in 2395
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TMPRSS3Deafness, autosomal recessive, type 8/10Autosomal 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
TPOThyroid dyshormonogenesis, type 2AAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 72
N/A
N/A
N/A
N/A
1 in 84
N/A
N/A
N/A
N/A
1 in 24144
N/A
N/A
N/A
N/A
1 in 28112
N/A
N/A
N/A
N/A
1 in 335
N/A
N/A
N/A
N/A
1 in 288
N/A
N/A
N/A
N/A
1 in 335
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TPP1Ceroid lipofuscinosis, neuronal, type 2; Spinocerebellar ataxia, autosomal recessive, type 7Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 266
1 in 833
1 in 1480
1 in 2199
1 in 568
1 in 1,591
1 in 4998
1 in 8880
1 in 13194
1 in 3408
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 6364
1 in 19992
1 in 35520
1 in 52776
1 in 13632
1 in 1064
1 in 3332
1 in 5920
1 in 8796
1 in 2272
1 in 6364
1 in 19992
1 in 35520
1 in 52776
1 in 13632
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TRDNVentricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weaknessAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 51
N/A
N/A
N/A
N/A
1 in 71
N/A
N/A
N/A
N/A
1 in 14484
N/A
N/A
N/A
N/A
1 in 20164
N/A
N/A
N/A
N/A
1 in 284
N/A
N/A
N/A
N/A
1 in 204
N/A
N/A
N/A
N/A
1 in 284
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TREX1Aicardi-Goutieres syndrome, type 1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 98
N/A
N/A
N/A
N/A
1 in 186
N/A
N/A
N/A
N/A
1 in 73260
N/A
N/A
N/A
N/A
1 in 138869
N/A
N/A
N/A
N/A
1 in 745
N/A
N/A
N/A
N/A
1 in 393
N/A
N/A
N/A
N/A
1 in 745
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TRIM32Limb-girdle muscular dystrophy, type 8 (LGMD R8)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 226
1 in 665
1 in 920
1 in 300
1 in 674
1 in 376
1 in 1108
1 in 1533
1 in 500
1 in 1123
1 in 339904
<1 in 1,000,000
<1 in 1,000,000
1 in 600000
<1 in 1,000,000
1 in 565504
<1 in 1,000,000
<1 in 1,000,000
1 in 1000000
<1 in 1,000,000
1 in 1504
1 in 4433
1 in 6133
1 in 2000
1 in 4493
1 in 904
1 in 2660
1 in 3680
1 in 1200
1 in 2696
1 in 1504
1 in 4433
1 in 6133
1 in 2000
1 in 4493
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TRIM37Mulibrey nanismAutosomal 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
TRMULiver failure, transient infantileAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 789
1 in 1045
1 in 920
1 in 300
1 in 606
1 in 1232
1 in 34
1 in 1,001
1 in 1326
1 in 1168
1 in 381
1 in 769
1 in 41067
1 in 170
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 456923
<1 in 1,000,000
<1 in 1,000,000
1 in 23120
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 579941
<1 in 1,000,000
<1 in 1,000,000
1 in 115600
1 in 4005
1 in 5305
1 in 4671
1 in 1523
1 in 3077
1 in 164267
1 in 680
1 in 3156
1 in 4180
1 in 3680
1 in 1200
1 in 2424
1 in 4928
1 in 136
1 in 4005
1 in 5305
1 in 4671
1 in 1523
1 in 3077
1 in 164267
1 in 680
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TSEN54Pontocerebellar hypoplasia, type 2A; Pontocerebellar hypoplasia, type 4Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 223
1 in 491
1 in 186
1 in 686
1 in 260
1 in 3,997
1 in 8838
1 in 3348
1 in 12348
1 in 4680
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 15988
1 in 35352
1 in 13392
1 in 49392
1 in 18720
1 in 892
1 in 1964
1 in 744
1 in 2744
1 in 1040
1 in 15988
1 in 35352
1 in 13392
1 in 49392
1 in 18720
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TSFMCombined oxidative phosphorylation deficiency, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 535
1 in 681
N/A
N/A
1 in 1796
1 in 611
1 in 778
N/A
N/A
1 in 2053
<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 2445
1 in 3113
N/A
N/A
1 in 8210
1 in 2140
1 in 2724
N/A
N/A
1 in 7184
1 in 2445
1 in 3113
N/A
N/A
1 in 8210
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TSHBHypothyroidism, congenital, nongoitrous, type 4Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 62
N/A
N/A
N/A
N/A
1 in 306
N/A
N/A
N/A
N/A
1 in 75675
N/A
N/A
N/A
N/A
1 in 373488
N/A
N/A
N/A
N/A
1 in 1222
N/A
N/A
N/A
N/A
1 in 248
N/A
N/A
N/A
N/A
1 in 1222
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TSHRHypothyroidism, congenital, nongoitrous, type 1Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 62
N/A
N/A
N/A
N/A
1 in 189
N/A
N/A
N/A
N/A
1 in 46876
N/A
N/A
N/A
N/A
1 in 143306
N/A
N/A
N/A
N/A
1 in 757
N/A
N/A
N/A
N/A
1 in 248
N/A
N/A
N/A
N/A
1 in 757
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TTC37Trichohepatoenteric syndrome, type 1 (diarrhea, syndromic)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 634
1 in 640
1 in 171
1 in 213
1 in 625
1 in 951
1 in 960
1 in 257
1 in 320
1 in 938
<1 in 1,000,000
<1 in 1,000,000
1 in 175446
1 in 272214
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 263169
1 in 408321
<1 in 1,000,000
1 in 3802
1 in 3840
1 in 1026
1 in 1278
1 in 3750
1 in 2536
1 in 2560
1 in 684
1 in 852
1 in 2500
1 in 3802
1 in 3840
1 in 1026
1 in 1278
1 in 3750
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TTPAAtaxia with isolated vitamin E deficiencyAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 607
1 in 319
N/A
1 in 2403
1 in 1293
1 in 3,637
1 in 1914
N/A
1 in 14418
1 in 7758
<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 14548
1 in 7656
N/A
1 in 57672
1 in 31032
1 in 2428
1 in 1276
N/A
1 in 9612
1 in 5172
1 in 14548
1 in 7656
N/A
1 in 57672
1 in 31032
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TYMPMitochondrial DNA depletion syndrome, type 1 (MNGIE type)Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 425
1 in 287
1 in 2873
1 in 1834
1 in 647
1 in 828
1 in 158
1 in 1,014
1 in 686
1 in 6867
1 in 4384
1 in 1546
1 in 27600
1 in 5267
<1 in 1,000,000
1 in 787528
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 4058
1 in 2744
1 in 27469
1 in 17535
1 in 6186
1 in 110400
1 in 21067
1 in 1700
1 in 1148
1 in 11492
1 in 7336
1 in 2588
1 in 3312
1 in 632
1 in 4058
1 in 2744
1 in 27469
1 in 17535
1 in 6186
1 in 110400
1 in 21067
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TYROculocutaneous albinism (OCA) type 1A; OCA type 1BAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 101
1 in 100
N/A
N/A
1 in 100
1 in 681
1 in 683
N/A
N/A
1 in 683
1 in 273742
1 in 273333
N/A
N/A
1 in 273333
<1 in 1,000,000
<1 in 1,000,000
N/A
N/A
<1 in 1,000,000
1 in 2724
1 in 2733
N/A
N/A
1 in 2733
1 in 402
1 in 400
N/A
N/A
1 in 400
1 in 2724
1 in 2733
N/A
N/A
1 in 2733
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
TYRP1Albinism, oculocutaneous, type 3Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 1,400
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 5598
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 5598
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
UBE3AAngelman syndrome Autosomal dominantGeneral
African/African American
East Asian
South Asian
Latino
1 in 62
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 249
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
UGT1A1Crigler-Najjar syndrome, type 1; Crigler-Najjar syndrome, type 2Autosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
1 in 500
N/A
N/A
N/A
N/A
1 in 5,496
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 21982
N/A
N/A
N/A
N/A
1 in 2002
N/A
N/A
N/A
N/A
1 in 21982
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
UNC13DHemophagocytic lymphohistiocytosis, familial, type 3Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 108
1 in 258
1 in 106
1 in 186
1 in 110
1 in 202
1 in 486
1 in 200
1 in 350
1 in 207
1 in 87442
1 in 501188
1 in 84600
1 in 260488
1 in 91106
1 in 163882
1 in 943412
1 in 159248
1 in 490329
1 in 171493
1 in 810
1 in 1943
1 in 798
1 in 1400
1 in 828
1 in 432
1 in 1032
1 in 424
1 in 744
1 in 440
1 in 810
1 in 1943
1 in 798
1 in 1400
1 in 828
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
UPF3BMental retardation, X-linked, syndromic, type 14X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 45,000
N/A
N/A
N/A
N/A
1 in 49,500
N/A
N/A
N/A
N/A
1 in 198000
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
USH1CUsher syndrome, type 1C; Deafness, autosomal recessive, type 18AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 257
1 in 48
1 in 154
1 in 485
1 in 526
1 in 902
1 in 169
1 in 542
1 in 1707
1 in 1852
1 in 927379
1 in 32440
1 in 333921
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 114190
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 3608
1 in 676
1 in 2168
1 in 6829
1 in 7406
1 in 1028
1 in 192
1 in 616
1 in 1940
1 in 2104
1 in 3608
1 in 676
1 in 2168
1 in 6829
1 in 7406
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
USH1GUsher syndrome, type 1GAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 4,124
1 in 1724
1 in 1983
1 in 1531
1 in 4696
1 in 9,242
1 in 3864
1 in 4445
1 in 3432
1 in 10526
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 36969
1 in 15457
1 in 17779
1 in 13726
1 in 42102
1 in 16496
1 in 6896
1 in 7932
1 in 6124
1 in 18784
1 in 36969
1 in 15457
1 in 17779
1 in 13726
1 in 42102
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
USH2AUsher syndrome, type 2AAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 60
1 in 69
1 in 27
1 in 68
1 in 51
1 in 40
1 in 173
1 in 199
1 in 78
1 in 196
1 in 147
1 in 800
1 in 41714
1 in 55001
1 in 8422
1 in 53419
1 in 30048
1 in 128000
1 in 119171
1 in 158850
1 in 24323
1 in 154279
1 in 86782
<1 in 1,000,000
1 in 690
1 in 797
1 in 312
1 in 786
1 in 589
1 in 3200
1 in 242
1 in 276
1 in 108
1 in 272
1 in 204
1 in 160
1 in 690
1 in 797
1 in 312
1 in 786
1 in 589
1 in 3200
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
VPS13AChoreoacanthocytosisAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 341
1 in 321
1 in 204
1 in 540
1 in 466
1 in 628
1 in 488
1 in 460
1 in 292
1 in 774
1 in 668
1 in 31400
1 in 666087
1 in 590768
1 in 238598
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 953878
1 in 846768
1 in 341991
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1953
1 in 1840
1 in 1170
1 in 3096
1 in 2672
1 in 125600
1 in 1364
1 in 1284
1 in 816
1 in 2160
1 in 1864
1 in 2512
1 in 1953
1 in 1840
1 in 1170
1 in 3096
1 in 2672
1 in 125600
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
VPS13BCohen syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 224
1 in 500
1 in 255
1 in 313
1 in 500
1 in 610
1 in 1365
1 in 696
1 in 854
1 in 1365
1 in 546318
<1 in 1,000,000
1 in 710003
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 2439
1 in 5459
1 in 2784
1 in 3418
1 in 5459
1 in 896
1 in 2000
1 in 1020
1 in 1252
1 in 2000
1 in 2439
1 in 5459
1 in 2784
1 in 3418
1 in 5459
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
VPS45Neutropenia, severe congenital, type 5Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,634
1 in 1120
1 in 1099
1 in 1703
1 in 3351
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 6536
1 in 4480
1 in 4396
1 in 6812
1 in 13404
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
VPS53Pontocerebellar hypoplasia, type 2EAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 1,506
1 in 2317
1 in 943
1 in 1549
1 in 1577
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 6024
1 in 9268
1 in 3772
1 in 6196
1 in 6308
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
VRK1Pontocerebellar hypoplasia, type 1AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
1 in 2,583
1 in 324
1 in 943
1 in 7488
1 in 8120
1 in 277
1 in 3,377
1 in 424
1 in 1233
1 in 9792
1 in 10618
1 in 1868
<1 in 1,000,000
1 in 549105
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 418598
<1 in 1,000,000
1 in 718061
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 13510
1 in 1695
1 in 4933
1 in 39168
1 in 42474
1 in 7471
1 in 10332
1 in 1296
1 in 3772
1 in 29952
1 in 32480
1 in 224
1 in 13510
1 in 1695
1 in 4933
1 in 39168
1 in 42474
1 in 7471
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
VSX2Microphthalmia with coloboma 3; Isolated microphthalmia 2Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
Ashkenazi Jewish
Sephardic Jewish
1 in 1,337
1 in 1608
1 in 829
1 in 3960
1 in 2776
N/A
1 in 145
1 in 3,564
1 in 4288
1 in 2211
1 in 10560
1 in 7403
N/A
1 in 4833
<1 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 1,000,000
<1 in 1,000,000
N/A
<1 in 1,000,000
1 in 14255
1 in 17152
1 in 8843
1 in 42240
1 in 29611
N/A
1 in 19333
1 in 5348
1 in 6432
1 in 3316
1 in 15840
1 in 11104
N/A
1 in 580
1 in 14255
1 in 17152
1 in 8843
1 in 42240
1 in 29611
N/A
1 in 19333
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
WASWiskott-Aldrich syndrome; Thrombocytopenia, X-linkedX-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
-
-
-
-
-
-
-
-
-
-
WHRNUsher syndrome, type 2D; Deafness, autosomal recessive, type 31Autosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 93
1 in 5751
1 in 1526
1 in 940
1 in 2074
1 in 127
1 in 7842
1 in 2081
1 in 1282
1 in 2828
1 in 47150
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 64111
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 506
1 in 31369
1 in 8324
1 in 5127
1 in 11313
1 in 372
1 in 23004
1 in 6104
1 in 3760
1 in 8296
1 in 506
1 in 31369
1 in 8324
1 in 5127
1 in 11313
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
WNT10AOdontoonychodermal dysplasiaAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 216
1 in 766
1 in 594
1 in 952
1 in 869
1 in 324
1 in 1149
1 in 891
1 in 1428
1 in 1304
1 in 279504
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 418609
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 1294
1 in 4596
1 in 3564
1 in 5712
1 in 5214
1 in 864
1 in 3064
1 in 2376
1 in 3808
1 in 3476
1 in 1294
1 in 4596
1 in 3564
1 in 5712
1 in 5214
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
WRNWerner syndromeAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 474
1 in 491
1 in 253
1 in 355
1 in 979
1 in 681
1 in 705
1 in 364
1 in 510
1 in 1407
<1 in 1,000,000
<1 in 1,000,000
1 in 367868
1 in 724282
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 528546
<1 in 1,000,000
<1 in 1,000,000
1 in 2722
1 in 2822
1 in 1454
1 in 2040
1 in 5626
1 in 1896
1 in 1964
1 in 1012
1 in 1420
1 in 3916
1 in 2722
1 in 2822
1 in 1454
1 in 2040
1 in 5626
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
XPAXeroderma pigmentosum, group AAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 718
1 in 1417
1 in 100
1 in 280
1 in 200
1 in 4,877
1 in 9636
1 in 680
1 in 1904
1 in 1360
<1 in 1,000,000
<1 in 1,000,000
1 in 272000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
<1 in 1,000,000
1 in 19506
1 in 38542
1 in 2720
1 in 7616
1 in 5440
1 in 2872
1 in 5668
1 in 400
1 in 1120
1 in 800
1 in 19506
1 in 38542
1 in 2720
1 in 7616
1 in 5440
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
XPCXeroderma pigmentosum, group CAutosomal recessiveCaucasian/European
African/African American
East Asian
South Asian
Latino
1 in 440
1 in 123
1 in 2906
1 in 462
1 in 19
1 in 1,635
1 in 458
1 in 10817
1 in 1720
1 in 71
<1 in 1,000,000
1 in 225254
<1 in 1,000,000
<1 in 1,000,000
1 in 5375
<1 in 1,000,000
1 in 838445
<1 in 1,000,000
<1 in 1,000,000
1 in 20007
1 in 6540
1 in 1831
1 in 43267
1 in 6879
1 in 283
1 in 1760
1 in 492
1 in 11624
1 in 1848
1 in 76
1 in 6540
1 in 1831
1 in 43267
1 in 6879
1 in 283
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ZDHHC9Mental retardation, X-linked syndromic, Raymond typeX-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 45,000
N/A
N/A
N/A
N/A
1 in 60,000
N/A
N/A
N/A
N/A
1 in 239999
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-
ZFYVE26Spastic paraplegia, type 15, autosomal recessiveAutosomal recessiveGeneral
African/African American
East Asian
South Asian
Latino
<1 in 500
N/A
N/A
N/A
N/A
<1 in 1,600
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 6426
N/A
N/A
N/A
N/A
1 in 2000
N/A
N/A
N/A
N/A
1 in 6426
N/A
N/A
N/A
N/A
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
ZNF711Mental retardation, X-linked, type 97X-linkedGeneral
African/African American
East Asian
South Asian
Latino
1 in 45,000
N/A
N/A
N/A
N/A
1 in 54,000
N/A
N/A
N/A
N/A
1 in 215999
N/A
N/A
N/A
N/A
-
-
-
-
-
-
-
-
-
-
1 in 4
1 in 4
1 in 4
1 in 4
1 in 4
-
-
-
-
-
-
-
-
-
-

*: phenotype with recessive and dominant cases.

©2021 | All rights reserved. Legal note | Privacy policy | Cookies policy