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CGT Exome

Whole exome compatible with most carrier platforms in the market


Genes: 1577

Variants: 30592

Numbers of diseases:  >1600

Estimated carrier rate (%)*: 62.7%

Estimated mean of mutations/individual**: 2.28

Mean depth: 100X

Complementary tests: HBA, F8, FMR1, SMN1, DMD, CYP21A2

Sample: Blood or saliva

TAT: 20 working days

All disorders linked to the gen X, are only analyzed in women.

Version 1.0

AAASTriple-A syndrome (achalasia-addisonianism-alacrimia)
AARSEpileptic encephalopathy, early infantile, type 29
AARS2Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure
AASSHyperlysinemia, type 1 and type 2
ABATGABA-transaminase deficiency
ABCA1Tangier disease
ABCA12Ichthyosis, congenital, autosomal recessive, type 4A; ICAR, type 4B (harlequin)
ABCA3Surfactant metabolism dysfunction, pulmonary, type 3
ABCA4Stargardt disease type 1; Cone-rod dystrophy type 3
ABCB11Cholestasis, benign recurrent intrahepatic, type 2; Cholestasis, progressive familial intrahepatic, type 2
ABCB4Cholestasis, progressive familial intrahepatic, type 3
ABCB7X-linked sideroblastic anemia and ataxia (XLSA/A)
ABCC6Arterial calcification, generalized, of infancy, type 2
ABCC8Hyperinsulinemic hypoglycemia, type 1 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)
ABCD4Methylmalonic aciduria and homocystinuria, cblJ type
ABHD12PHARC syndrome (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract)
ABHD5Chanarin-Dorfman syndrome
ACAD8Isobutyryl-CoA dehydrogenase deficiency
ACAD9Acyl-CoA dehydrogenase 9 deficiency (mitochondrial complex I deficiency, nuclear, type 20)
ACADMMedium-chain acyl-CoA dehydrogenase deficiency
ACADSShort-chain acyl-CoA dehydrogenase deficiency
ACADSBShort/branched-chain acyl-CoA dehydrogenase deficiency
ACADVLVery long-chain acyl-CoA dehydrogenase deficiency
ACAT1Alpha-methylacetoacetic aciduria (3-ketothiolase deficiency)
ACERenal tubular dysgenesis
ACO2Infantile cerebellar-retinal degeneration
ACOX1Peroxisomal acyl-CoA oxidase deficiency
ACP5Spondyloenchondrodysplasia with immune dysregulation
ACSF3Combined malonic and methylmalonic aciduria
ACSL4Mental retardation, X-linked, type 63
ACTA1Nemaline myopathy 3; Congenital fiber-type disproportion myopathy 1
ACY1Aminoacylase 1 deficiency
ADASevere combined immunodeficiency due to adenosine deaminase deficiency (ADA)
ADAM9Cone-rod dystrophy 9
ADAMTS10Weill-Marchesani syndrome, type 1, recessive
ADAMTS13Thrombotic thrombocytopenic purpura, familial (Schulman-Upshaw syndrome)
ADAMTS17Weill-Marchesani syndrome, type 4, recessive
ADAMTS18Microcornea, myopic chorioretinal atrophy, and telecanthus
ADAMTS2Ehlers-Danlos syndrome, dermatosparaxis type
ADAMTSL2Geleophysic dysplasia type 1
ADAMTSL4Ectopia lentis et pupillae; Ectopia lentis, isolated
ADARAicardi-Goutieres syndrome 6
ADGRG1Polymicrogyria, bilateral frontoparietal
ADGRV1Usher syndrome, type 2C
ADKHypermethioninemia due to adenosine kinase deficiency
ADSLAdenylosuccinase deficiency
AFF2Mental retardation, X-linked, FRAXE type
AFG3L2Spastic ataxia, type 5, autosomal recessive
AGAAspartylglucosaminuria (glycosylasparaginase deficiency)
AGKCataract 38, autosomal recessive; Sengers syndrome
AGLGlycogen storage disease, type 3
AGPAT2Congenital generalized lipodystrophy (Berardinelli-Seip syndrome)
AGPSRhizomelic chondrodysplasia punctata, type 3
AGRNMyasthenic syndrome, congenital, type 8
AGTRenal tubular dysgenesis
AGTR1Renal tubular dysgenesis
AGXTHyperoxaluria, primary, type 1
AHCYHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
AHI1Joubert syndrome, type 3
AICDAImmunodeficiency with hyper-IgM, type 2
AIFM1Cowchock syndrome; Deafness, X-linked, type 5
AIMP1Leukodystrophy, hypomyelinating, type 3
AIPL1Leber congenital amaurosis type 4
AIREAutoimmune polyendocrinopathy syndrome type 1
AK1Hemolytic anemia due to adenylate kinase deficiency
AK2Reticular dysgenesis
AKR1C246,XY disorder of sex development due to testicular 17,20-desmolase deficiency
AKR1D1Bile acid synthesis defect, congenital, type 2
ALADPorphyria, acute hepatic
ALAS2X-linked sideroblastic anemia, type 1 (XLSA or SIDBA1)
ALDH18A1Spastic paraplegia, type 9B, autosomal recessive; De Barsy syndrome
ALDH3A2Sjogren-Larsson syndrome
ALDH4A1Hyperprolinemia, type 2
ALDH5A1Succinic semialdehyde dehydrogenase deficiency
ALDH6A1Methylmalonate semialdehyde dehydrogenase deficiency
ALDH7A1Epilepsy, pyridoxine-dependent
ALDOAGlycogen storage disease type 12
ALDOBFructose intolerance, hereditary
ALG1Congenital disorder of glycosylation, type 1K
ALG11Congenital disorder of glycosylation, type 1P
ALG12Congenital disorder of glycosylation, type 1G
ALG13Epileptic encephalopathy, early infantile, type 36
ALG2Myasthenic syndrome, congenital, type 14, with tubular aggregates
ALG6Congenital disorder of glycosylation, type 1C
ALG8Congenital disorder of glycosylation, type 1H
ALG9Congenital disorder of glycosylation, type 1L; Gillessen-Kaesbach-Nishimura syndrome
ALMS1Alstr?m syndrome
ALOX12BIchthyosis, congenital, autosomal recessive, type 2
ALOXE3Ichthyosis, congenital, autosomal recessive, type 3
ALPLHypophosphatasia, childhood/infantile
ALS2Amyotrophic lateral sclerosis, type 2, juvenile; Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascending
ALX1Frontonasal dysplasia, type 3
ALX3Frontonasal dysplasia, type 1
ALX4Frontonasal dysplasia, type 2
AMACRBile acid synthesis defect, congenital, type 4; Alpha-methylacyl-CoA racemase deficiency
AMELXAmelogenesis imperfecta, type 1E
AMER1Osteopathia striata with cranial sclerosis
AMHPersistent Mullerian duct syndrome, type 1
AMNMegaloblastic anemia 1 (Imerslund-Grasbeck syndrome)
AMPD1Myopathy due to myoadenylate deaminase deficiency
AMTGlycine encephalopathy
ANGPTL3Hypobetalipoproteinemia, familial, type 2
ANO10Spinocerebellar ataxia, autosomal recessive, type 10
ANO5Limb-girdle muscular dystrophy, type 12 (LGMD R12)
ANOS1Hypogonadotropic hypogonadism, type 1, with or without anosmia (Kallmann syndrome 1)
ANTXR1GAPO syndrome
ANTXR2Hyaline fibromatosis syndrome
AP1S1MEDNIK syndrome
AP1S2Mental retardation, X-linked, syndromic, type 5 (Pettigrew syndrome)
AP3B1Hermansky-Pudlak syndrome, type 2
AP3B2Epileptic encephalopathy, early infantile, type 48
AP4B1Spastic paraplegia, type 47, autosomal recessive
AP4M1Spastic paraplegia, type 50, autosomal recessive
AP4S1Spastic paraplegia, type 52, autosomal recessive
AP5Z1Spastic paraplegia, type 48, autosomal recessive
APOC2Hyperlipoproteinemia, type 1B
APOESea-blue histiocyte disease
APRTAdenine phosphoribosyltransferase deficiency
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia
AQP2Diabetes insipidus, nephrogenic, type 2
ARAndrogen insensitivity syndrome, complete
ARFGEF2Periventricular heterotopia with microcephaly
ARG1Argininemia (arginase deficiency)
ARHGEF9Epileptic encephalopathy, early infantile, type 8
ARL13BJoubert syndrome type 8
ARL6Bardet-Biedl syndrome, type 3
ARSAMetachromatic leukodystrophy
ARSBMucopolysaccharidosis, type 6 (Maroteaux-Lamy syndrome)
ARSEChondrodysplasia punctata, brachytelephalangic
ARXEpileptic encephalopathy, early infantile, type 1; ARX-related developmental disorders
ASAH1Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy
ASLArgininosuccinic aciduria
ASNSAsparagine synthetase deficiency
ASPACanavan disease
ASPMPrimary microcephaly type 5, autosomal recessive
ASS1Citrullinemia, type 1
ATF6Achromatopsia 7
ATICAICA-ribosiduria due to ATIC deficiency
ATOH7Persistent hyperplastic primary vitreous, autosomal recessive
ATP13A2Kufor-Rakeb syndrome; Spastic paraplegia, type 78, autosomal recessive
ATP2A1Brody myopathy
ATP6V0A2Cutis laxa, autosomal recessive, type 2A; Wrinkly skin syndrome
ATP6V0A4Renal tubular acidosis, distal, autosomal recessive
ATP6V1B1Renal tubular acidosis with deafness
ATP7AMenkes disease; Occipital horn syndrome
ATP7BWilson disease
ATP8B1Cholestasis, progressive familial intrahepatic, type 1; Cholestasis, benign recurrent intrahepatic, type 1
ATRSeckel syndrome type 1
ATRXMental retardation-hypotonic facies syndrome, X-linked
AUH3-methylglutaconic aciduria, type 1
AURKCMale infertility spermatogenic failure, type 5
AVPR2Diabetes insipidus, nephrogenic, type 1; Nephrogenic syndrome of inappropriate antidiuresis (NSIAD)
B2MImmunodeficiency, type 43
B3GAT3Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects
B3GLCTPeters-plus syndrome
B4GALT1Congenital disorder of glycosylation, type 2D
B4GALT7Ehlers-Danlos syndrome, spondylodysplastic, type 1
B9D1Joubert syndrome, type 27
B9D2Joubert syndrome type 34; Meckel syndrome type 10
BBS1Bardet-Biedl syndrome, type 1
BBS10Bardet-Biedl syndrome, type 10
BBS12Bardet-Biedl syndrome, type 12
BBS2Bardet-Biedl syndrome, type 2
BBS4Bardet-Biedl syndrome, type 4
BBS5Bardet-Biedl syndrome, type 5
BBS7Bardet-Biedl syndrome, type 7
BBS9Bardet-Biedl syndrome, type 9
BCAP31Deafness, dystonia, and cerebral hypomyelination
BCKDHAMaple syrup urine disease, type 1A
BCKDHBMaple syrup urine disease, type 1B
BCORMicrophthalmia, syndromic, type 2
BCS1LBCS1L-related disorders, including Leigh syndrome
BEST1Bestrophinopathy, AR
BHLHA9Syndactyly, mesoaxial synostotic, with phalangeal reduction
BIN1Centronuclear myopathy, type 2
BLMBloom syndrome
BMP1Osteogenesis imperfecta, type 13
BMP15Ovarian dysgenesis 2
BMPR1BAcromesomelic dysplasia, Demirhan type
BOLA3Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
BPGMErythrocytosis due to bisphosphoglycerate mutase deficiency
BRAT1Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
BRIP1Fanconi anemia, complementation group J
BRWD3Mental retardation, X-linked, type 93
BSCL2Congenital generalized lipodystrophy, type 2; Encephalopathy, progressive, with or without lipodystrophy
BSNDBartter syndrome, type 4A
BTDBiotinidase deficiency
BTKAgammaglobulinemia X-linked, type 1
BUB1BMosaic variegated aneuploidy syndrome 1
C12orf57Temtamy syndrome
C12orf65Combined oxidative phosphorylation deficiency 7; Spastic paraplegia, type 55, autosomal recessive
C19orf12Neurodegeneration with brain iron accumulation, type 4
C1QAC1q deficiency
C1QBC1q deficiency
C1QCC1q deficiency
C1SC1s deficiency
C3Complement component 3 deficiency
C5Complement component 5 deficiency
C7Complement component 7 deficiency
C8BComplement component 8 deficiency, type 2
C8orf37Bardet-Biedl syndrome, type 21; Cone-rod dystrophy 16 and Retintis pigmentosa 64
CA12Hyperchlorhidrosis, isolated
CA2Osteopetrosis with renal tubular acidosis (osteopetrosis, autosomal recessive, type 3)
CABP4Congenital stationary night blindness, type 2B
CACNA1DSinoatrial node dysfunction and deafness
CACNA1FCone-rod dystrophy, X-linked, type 3; Night blindness, congenital stationary, type 2A; Aland Island eye disease
CANT1Desbuquois dysplasia, type 1; Epiphyseal dysplasia, multiple, type 7
CAPN3Limb-girdle muscular dystrophy, type 1 (LGMD R1)
CARD9Candidiasis, familial, type 2, autosomal recessive
CASKMental retardation, X-linked, syndromic, Najm type
CASQ2Ventricular tachycardia, catecholaminergic polymorphic, type 2
CASRHyperparathyroidism, neonatal
CASTPeeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
CATSPER1Male infertility spermatogenic failure, type 7
CAVIN1Lipodystrophy, congenital generalized, type 4
CBSHomocystinuria due to cystathionine beta-synthase
CC2D1AMental retardation, autosomal recessive, type 3
CC2D2AJoubert syndrome type 9
CCBE1Hennekam lymphangiectasia-lymphedema syndrome, type 1
CCDC103Ciliary dyskinesia, primary, type 17
CCDC39Ciliary dyskinesia, primary, type 14
CCDC40Ciliary dyskinesia, primary, type 15
CCDC88CHydrocephalus, congenital, type 1
CD19Immunodeficiency, common variable, type 3
CD27Lymphoproliferative syndrome 2
CD3DImmunodeficiency, type 19
CD3EImmunodeficiency, type 18
CD3GImmunodeficiency, type 17, CD3 gamma deficient
CD40Immunodeficiency with hyper-IgM, type 3
CD40LGHyper-IgM syndrome, type 1 (immunodeficiency, X-linked, with hyper-IgM, type 1)
CD55Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE)
CD59CD59 Deficiency
CD79AAgammaglobulinemia 3
CD79BAgammaglobulinemia 6
CD81Immunodeficiency, common variable, type 6
CD8ACD8 deficiency, familial
CDAN1Dyserythropoietic anemia, congenital, type 1A
CDH23Deafness, autosomal recessive, type 12; Usher syndrome, type 1D
CDH3Ectodermal dysplasia, ectrodactyly, and macular dystrophy
CDHR1Cone-rod dystrophy, type 15
CDK5RAP2Primary microcephaly type 3, autosomal recessive
CDKL5Epileptic encephalopathy, early infantile, type 2
CDT1Meier-Gorlin syndrome, type 4
CENPJPrimary microcephaly type 6, autosomal recessive
CEP135Microcephaly 8, primary, autosomal recessive
CEP152Primary microcephaly type 9, autosomal recessive
CEP290Meckel syndrome, type 4; Joubert syndrome, type 5; Leber congenital amaurosis, type 10
CEP41Joubert syndrome, type 15
CEP57Mosaic variegated aneuploidy syndrome 2
CERKLRetinitis pigmentosa, type 26
CFDComplement factor D deficiency
CFHComplement factor H deficiency
CFIComplement factor I deficiency
CFL2Nemaline myopathy, type 7, autosomal recessive
CFPProperdin deficiency, X-linked
CFTRCystic fibrosis
CHATMyasthenic syndrome, congenital, type 6, presynaptic
CHKBMuscular dystrophy, congenital, megaconial type
CHRDL1Megalocornea 1, X-linked
CHRNDMyasthenic syndrome, congenital, type 3B, fast-channel; Multiple pterygium syndrome, lethal type
CHRNEMyasthenic syndrome, congenital, type 4B, fast-channel; Myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency
CHRNGMultiple pterygium syndrome (MPS), Escobar type; MPS, lethal type
CHST14Ehlers-Danlos syndrome, musculocontractural, type 1
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations
CHST6Macular corneal dystrophy
CHSY1Temtamy preaxial brachydactyly syndrome
CHUKCocoon syndrome
CIB2Deafness, autosomal recessive, type 48; Usher syndrome, type 1J
CIITABare lymphocyte syndrome, type 2, complementation group A
CISD2Wolfram syndrome 2
CLCF1Cold-induced sweating syndrome 2
CLCN1Myotonia congenita, recessive
CLCN2Leukoencephalopathy with ataxia
CLCN5Dent disease; Hypophosphatemic rickets
CLCN7Osteopetrosis, autosomal recessive type 4
CLCNKABartter syndrome, type 4B, digenic
CLCNKBBartter syndrome, type 3
CLDN1Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
CLDN14Deafness type 29, autosomal recessive
CLDN16Hypomagnesemia, type 3, renal
CLDN19Rena hypomagnesemia type 5, with ocular involvement
CLMPCongenital short bowel syndrome
CLN3Ceroid lipofuscinosis, neuronal, type 3
CLN5Ceroid lipofuscinosis, neuronal, type 5
CLN6Ceroid lipofuscinosis, neuronal, type 6
CLN8Ceroid lipofuscinosis, neuronal, type 8
CLRN1Usher syndrome, type 3A
CNGA1Retinitis pigmentosa type 49
CNGA3Achromatopsia 2
CNGB1Retinitis pigmentosa type 45
CNGB3Achromatopsia, type 3
CNKSR2Mental retardation, X-linked, syndromic, Houge type
CNNM2Hypomagnesemia, seizures, and mental retardation
CNNM4Jalili syndrome
CNPY3Epileptic encephalopathy, early infantile, type 60
CNTNAP2Pitt-Hopkins like syndrome 1
COG4Congenital disorder of glycosylation, type 2J
COG5Congenital disorder of glycosylation, type 2I
COG6Congenital disorder of glycosylation, type 2L; Shaheen syndrome
COG7Congenital disorder of glycosylation, type 2E
COG8Congenital disorder of glycosylation, type 2H
COL11A1Fibrochondrogenesis type 1
COL17A1Epidermolysis bullosa, junctional, non-Herlitz type
COL18A1Knobloch syndrome, type 1
COL25A1Fibrosis of extraocular muscles, congenital, type 5
COL4A3Alport syndrome, autosomal recessive, type 2
COL4A4Alport syndrome, autosomal recessive, type 2
COL4A5Alport syndrome, X-linked
COL6A1Ullrich congenital muscular dystrophy, type 1; Bethlem myopathy 1
COL6A2Ullrich congenital muscular dystrophy, type 1; Bethlem myopathy 1
COL6A3Dystonia, type 27
COL7A1Dystrophic epidermolysis bullosa (DEB), Hallopeau-Siemens (HS) type and non-HS type; DEB pruriginosa; DEB pretibial
COL9A1Stickler syndrome, type 4
COLEC113MC syndrome, type 2
COLQMyasthenic syndrome, congenital, type 5
COQ2Primary coenzyme Q10 deficiency, type 1
COQ4Coenzyme Q10 deficiency, primary, type 7
COQ6Coenzyme Q10 deficiency, primary, type 6
COQ8APrimary coenzyme Q10 deficiency, type 4
COQ9Coenzyme Q10 deficiency, primary, type 5
CORO1AImmunodeficiency, type 8
COX10Mitochondrial complex IV deficiency; Leigh syndrome due to mitochondrial COX4 deficiency
COX15Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 2; Leigh syndrome due to cytochrome c oxidase deficiency
CPA6Febrile seizures, familial, type 11
CPS1Carbamoylphosphate synthetase 1 deficiency
CPT1ACarnitine palmitoyltransferase type 1A deficiency, hepatic
CPT2Carnitine palmitoyltransferase type 2 deficiency, lethal neonatal; Carnitine palmitoyltransferase type 2 deficiency, infantile
CR2Immunodeficiency, common variable, type 7
CRADDMental retardation, autosomal recessive, type 34, with variant lissencephaly
CRB1Retinitis pigmentosa, type 12; Leber congenital amaurosis, type 8
CRBNMental retardation, autosomal recessive, type 2
CRLF1Cold-induced sweating syndrome type 1
CRTAPOsteogenesis imperfecta, type 7
CRYAACataract 9, multiple types
CRYABMyopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related; Cataract 16, multiple types
CRYBB1Cataract 17, multiple types
CRYBB3Cataract 22
CSF2RBSurfactant metabolism dysfunction, pulmonary, type 5
CSF3RNeutropenia, severe congenital, type 7, autosomal recessive
CSTAPeeling skin syndrome, type 4
CSTBEpilepsy, progressive myoclonic type 1A (Unverricht and Lundborg)
CTC1Cerebroretinal microangiopathy with calcifications and cysts
CTNSNephropathic cystinosis
CTSCHaim-Munk syndrome; Papillon-Lefevre syndrome
CTSDCeroid lipofuscinosis, neuronal, type 10
CUBNMegaloblastic anemia 1 (Imerslund-Grasbeck syndrome)
CUL4BMental retardation, X-linked, syndromic, type 15 (Cabezas type)
CUL73-M syndrome 1
CYB5A46,XY disorder of sex development due to isolated 17,20-lyase deficiency
CYB5R3Methemoglobinemia, type 1; Methemoglobinemia, type 2
CYBAChronic granulomatous disease, autosomal recessive, due to deficiency of CYBA
CYBBChronic granulomatous disease, X-linked
CYP11A146,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
CYP11B1Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
CYP11B2Hypoaldosteronism, congenital, due to CMO I deficiency
CYP17A117 alpha(α)-hydroxylase/17,20-lyase deficiency
CYP19A1Aromatase deficiency
CYP1B1Glaucoma, primary congenital, type 3A
CYP21A2Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
CYP24A1Hypercalcemia, infantile, type 1
CYP27A1Cerebrotendinous xanthomatosis
CYP27B1Vitamin D-dependent rickets, type 1
CYP4F22Ichthyosis, congenital, autosomal recessive, type 5
CYP4V2Bietti crystalline corneoretinal dystrophy
CYP7B1Spastic paraplegia type 5A, autosomal recessive
D2HGDHD-2-hydroxyglutaric aciduria
DAG1Muscular dystrophy-dystroglycanopathy type A9; Muscular dystrophy-dystroglycanopathy type C9
DARS2Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DBHDopamine beta-hydroxylase deficiency
DBTMaple syrup urine disease, type 2
DCAF17Woodhouse-Sakati syndrome
DCCGaze palsy, familial horizontal, with progressive scoliosis, type 2
DCDC2Sclerosing cholangitis, neonatal; Nephronophthisis 19
DCLRE1COmenn syndrome; Severe combined immunodeficiency, Athabascan type
DCXLissencephaly, X-linked
DDB2Xeroderma pigmentosum, complementation group E
DDCAromatic L-amino acid decarboxylase deficiency
DDR2Spondylometaepiphyseal dysplasia, short limb-hand type
DDX11Warsaw breakage syndrome
DDX3XMental retardation, X-linked, type 102
DESMyopathy, myofibrillar, type 1
DGUOKDGUOK-related mitochondrial DNA depletion syndrome
DHCR7Smith-Lemli-Opitz syndrome
DHDDSRetinitis pigmentosa, type 59
DHFRMegaloblastic anemia due to dihydrofolate reductase deficiency
DHH46,XY complete gonadal dysgenesis
DHODHMiller syndrome
DIAPH1Seizures, cortical blindness, microcephaly syndrome
DIS3L2Perlman syndrome
DKC1Dyskeratosis congenita, X-linked
DLATPyruvate dehydrogenase E2 deficiency
DLDDihydrolipoamide dehydrogenase deficiency
DLG3Mental retardation, X-linked, type 90
DLL3Spondylocostal dysostosis type 1
DMDDuchenne/Becker muscular dystrophy
DMP1Hypophosphatemic rickets, autosomal recessive
DNAAF1Ciliary dyskinesia, primary, type 13
DNAAF2Ciliary dyskinesia, primary, type 10
DNAAF3Ciliary dyskinesia, primary, type 2
DNAAF4Ciliary dyskinesia, primary, type 25
DNAAF5Ciliary dyskinesia, primary, type 18
DNAH11Ciliary dyskinesia, primary, type 7, with or without situs inversus
DNAH5Ciliary dyskinesia, primary, type 3, with or without situs inversus
DNAI1Ciliary dyskinesia, primary, type 1, with or without situs inversus
DNAI2Ciliary dyskinesia, primary, type 9, with or without situs inversus
DNAJB2Spinal muscular atrophy, distal, autosomal recessive, type 5
DNAJC193-methylglutaconic aciduria, type 5
DNAJC6Parkinson disease, type 19A, juvenile-onset; Parkinson disease, type 19B, early-onset
DNAL1Ciliary dyskinesia, primary, type 16
DNM1LEncephalopathy due to defective mitochondrial and peroxisomal fission, type 1
DNM2Lethal congenital contracture syndrome, type 5
DNMT3BImmunodeficiency-centromeric instability-facial anomalies syndrome, type 1
DOCK6Adams-Oliver syndrome 2
DOCK8Hyper-IgE recurrent infection syndrome, autosomal recessive
DOK7Fetal akinesia deformation sequence, type 3; Myasthenic syndrome, congenital, type 10
DOLKCongenital disorder of glycosylation, type 1M
DPAGT1Congenital disorder of glycosylation, type 1J; Myasthenic syndrome, congenital, type 13
DPM1Congenital disorder of glycosylation, type 1E
DPY19L2Male infertility spermatogenic failure, type 9
DPYDDihydropyrimidine dehydrogenase deficiency
DSG1Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE
DSG4Hypotrichosis, type 6
DSPCardiomyopathy, dilated, with woolly hair and keratoderma; Epidermolysis bullosa, lethal acantholytic
DSTEpidermolysis bullosa simplex, autosomal recessive, type 2
DTNBP1Hermansky-Pudlak syndrome 7
DUOX2Thyroid dyshormonogenesis, type 6
DUOXA2Thyroid dyshormonogenesis, type 5
DYMSmith-McCort dysplasia; Dyggve-Melchior-Clausen disease
DYNC2H1Short-rib thoracic dysplasia, type 3, with or without polydactyly
DYSFMiyoshi muscular dystrophy, type 1; Limb-girdle muscular dystrophy, type 2 (LGMD R2)
EARS2Combined oxidative phosphorylation deficiency 12
EBPMEND syndrome; Chondrodysplasia punctata
ECM1Urbach-Wiethe disease
EDAEctodermal dysplasia, type 1, hypohidrotic, X-linked
EDAREctodermal dysplasia 10B, hypohidrotic/hair/tooth type
EDARADDEctodermal dysplasia 11B, hypohidrotic/hair/tooth type
EDN1Auriculocondylar syndrome, type 3
EDN3Waardenburg syndrome, type 4B
EDNRBABCD syndrome
EFEMP2Cutis laxa, autosomal recessive, type 1B
EFNB1Craniofrontonasal dysplasia
EGFR?Inflammatory skin and bowel disease, neonatal, 2
EGR2Dejerine-Sottas disease
EIF2AK3Wolcott-Rallison syndrome
EIF2B2Leukoencephalopathy with vanishing white matter
EIF2B3Leukoencephalopathy with vanishing white matter
EIF2B4Leukoencephalopathy with vanishing white matter
EIF2B5Leukoencephalopathy with vanishing white matter
ELAC2Combined oxidative phosphorylation deficiency 17
ELOVL4Ichthyosis, spastic quadriplegia, and mental retardation
ELP1Dysautonomia, familial
ELP2Mental retardation, autosomal recessive, type 58
EMDEmery-Dreifuss muscular dystrophy, type 1, X-linked
ENAMAmelogenesis imperfecta, type 1C
ENPP1Arterial calcification, generalized, of infancy, type 1
ENTPD1Spastic paraplegia, type 64, autosomal recessive
EPB41Elliptocytosis, type 1
EPB42Spherocytosis, type 5
EPCAMCongenital tufting enteropathy
EPM2AEpilepsy, progressive myoclonic, type 2A (Lafora)
ERBB3Lethal congenital contractural syndrome, type 2
ERCC1Cerebrooculofacioskeletal syndrome, type 4
ERCC2Trichothiodystrophy, type 1
ERCC3Trichothiodystrophy, type 2
ERCC5Cerebrooculofacioskeletal syndrome, type 3
ERCC6Cockayne syndrome, type B; Cerebrooculofacioskeletal syndrome, type 1
ERCC8Cockayne syndrome, type A
ERLIN2Spastic paraplegia, type 18, autosomal recessive
ESCO2Roberts syndrome
ESPNDeafness, autosomal recessive, type 36
ESR1Estrogen resistance
ESRRBDeafness, autosomal recessive, type 35
ETFAGlutaric acidemia, type 2A
ETFBGlutaric acidemia, type 2B
ETFDHGlutaric acidemia, type 2C
ETHE1Ethylmalonic encephalopathy
EVCEllis-van Creveld syndrome
EVC2Ellis-van Creveld syndrome
EXOSC3Pontocerebellar hypoplasia, type 1B
EXTL3Immunoskeletal dysplasia with neurodevelopmental abnormalities
EYSRetinitis pigmentosa, type 25
F10Factor X deficiency
F13A1Factor XIIIA deficiency
F13BFactor XIIIB deficiency
F2Prothrombin deficiency
F7Factor VII deficiency
F8Hemophilia A
F9Hemophilia B
FA2HSpastic paraplegia, type 35, autosomal recessive
FAHTyrosinemia, type 1
FAM126AHypomyelinating leukodystrophy, type 5
FAM161ARetinitis pigmentosa, type 28
FAM20AAmelogenesis imperfecta, type 1G (Enamel-renal syndrome)
FAM20CRaine syndrome
FANCAFanconi anemia, complementation group A
FANCBFanconi anemia, complementation group B
FANCCFanconi anemia, complementation group C
FANCD2Fanconi anemia, complementation group D2
FANCEFanconi anemia, complementation group E
FANCFFanconi anemia, complementation group F
FANCGFanconi anemia, complementation group G
FANCIFanconi anemia, complementation group I
FANCLFanconi anemia, complementation group L
FARS2Combined oxidative phosphorylation deficiency 14; Spastic paraplegia, type 77, autosomal recessive
FBLN5Cutis laxa, autosomal recessive, type 1A
FBP1Fructose-1,6-bisphosphatase deficiency
FBXO7Parkinson disease, type 15, autosomal recessive
FECHProtoporphyria, erythropoietic, autosomal recessive
FERMT1Kindler syndrome
FERMT3Leukocyte adhesion deficiency, type 3
FGAAfibrinogenemia, congenital
FGBCongenital afibrinogenemia
FGD1Aarskog-Scott syndrome; Mental retardation, X-linked syndromic, type 16
FGD4Charcot-Marie-Tooth disease, type 4H
FGF23Tumoral calcinosis, hyperphosphatemic, familial, type 2
FGF3Deafness, congenital with inner ear agenesis, microtia, and microdontia
FGGAfibrinogenemia, congenital; Hypofibrinogenemia, congenital
FHFumarase deficiency
FHL1Emery-Dreifuss muscular dystrophy, type 6, X-linked
FIG4Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndrome
FKBP10Bruck syndrome 1
FKRPMuscular dystrophy-dystroglycanopathy, type 5A, 5B and 5C
FKTNMuscular dystrophy-dystroglycanopathy, type 4A (Walker-Warburg syndrome); Type 4B; Type 4C (limb-girdle muscular dystrophy, type 13 [LGMD R13])
FLI1Bleeding disorder, platelet-type, type 21
FLNAFLNA-related disorders
FLNBSpondylocarpotarsal synostosis syndrome
FLVCR1Posterior column ataxia-retinitis pigmentosa syndrome
FLVCR2Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
FMN2Mental retardation, autosomal recessive, type 47
FMR1Fragile X syndrome
FOLR1Neurodegeneration due to cerebral folate transport deficiency
FOXE1Bamforth-Lazarus syndrome
FOXE3Anterior segment dysgenesis, type 2, multiple subtypes
FOXN1T-cell immunodeficiency, congenital alopecia and nail dystrophy
FOXP3Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked
FOXRED1Mitochondrial complex I deficiency, nuclear type 19
FRAS1Fraser syndrome, type 1
FREM1Manitoba oculotrichoanal syndrome
FREM2Fraser syndrome, type 2
FRMD7Nystagmus 1, congenital, X-linked; Nystagmus, infantile periodic alternating, X-linked
FRMPD4Mental retardation, X-linked, type 104
FSHBHypogonadotropic hypogonadism, type 24, without anosmia
FSHROvarian dysgenesis 1
FTCDGlutamate formiminotransferase deficiency
FTLL-ferritin deficiency
FTOGrowth retardation, developmental delay, facial dysmorphism
FUT8Congenital disorder of glycosylation with defective fucosylation, type 1
FXNFriedreich ataxia
FYCO1Cataract 18, autosomal recessive
FZD6Nail disorder, nonsyndromic congenital, type 10 (claw-shaped nails)
G6PCGlycogen storage disease, type 1A
G6PC3Dursun syndrome
G6PDHemolytic anemia, G6PD deficient (favism)
GAAGlycogen storage disease, type 2
GALCKrabbe disease
GALEGalactose epimerase deficiency
GALK1Galactokinase deficiency with cataracts
GALNSMucopolysaccharidosis, type 4A
GALNT3Tumoral calcinosis, hyperphosphatemic, familial, type 1
GAMTCerebral creatine deficiency syndrome type 2
GANGiant axonal neuropathy, type 1
GATA1Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Thrombocytopenia with beta-thalassemia, X-linked; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia
GATMCerebral creatine deficiency syndrome, type 3
GBAGaucher disease
GBE1Glycogen storage disease, type 4
GCDHGlutaricaciduria, type 1
GCH1Hyperphenylalaninemia, BH4-deficient, type B
GCKPermanent neonatal diabetes mellitus (PNDM)
GCNT2Cataract 13, with adult i phenotype
GDAP1Charcot-Marie-Tooth disease, recessive intermediate, type A
GDF1Right atrial isomerism (Ivemark syndrome)
GDF5Chondrodysplasia, Grebe type
GDF6Leber congenital amaurosis 17
GDI1Mental retardation, X-linked, type 41
GFERMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
GFM1Combined oxidative phosphorylation deficiency, type 1
GFPT1Myasthenia, congenital, type 12, with tubular aggregates
GGCXVitamin K-dependent clotting factors, combined deficiency of, type 1
GH1Growth hormone deficiency, isolated, type 1A; Kowarski syndrome
GHRHRGrowth hormone deficiency, isolated, type 1B
GHSRGrowth hormone deficiency, isolated partial
GIFIntrinsic factor deficiency
GIPC3Deafness, autosomal recessive, type 15
GJA1Craniometaphyseal dysplasia, autosomal recessive
GJB1Charcot-Marie-Tooth neuropathy, X-linked dominant, type 1
GJB2Deafness, autosomal recessive, type 1A
GJB6Deafness, autosomal recessive, type 1B
GJC2Spastic paraplegia, type 44, autosomal recessive
GKGlycerol kinase deficiency
GLAFabry disease
GLB1GM1-gangliosidosis, types 1-3; Mucopolysaccharidosis, type 4B (Morquio)
GLDCGlycine encephalopathy
GLE1Lethal congenital contracture syndrome, type 1; Congenital arthrogryposis with anterior horn cell disease
GLIS2Nephronophthisis, type 7
GLIS3Diabetes mellitus, neonatal, with congenital hypothyroidism
GLRA1Hyperekplexia, type 1
GLRBHyperekplexia, type 2
GLRX5Anemia, sideroblastic, type 3, pyridoxine-refractory; Spasticity, childhood-onset, with hyperglycinemia
GLULGlutamine deficiency, congenital
GLYCTKD-glyceric aciduria
GM2AGM2-gangliosidosis, AB variant
GNAT1Night blindness, congenital stationary, type 1G
GNAT2Achromatopsia 4
GNB5Intellectual developmental disorder with cardiac arrhythmia; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia
GNEInclusion body myopathy, type 2 (Nonaka myopathy)
GNMTGlycine N-methyltransferase deficiency
GNPATRhizomelic chondrodysplasia punctata, type 2
GNPTABMucolipidosis 2 alpha/beta; Mucolipidosis 3 alpha/beta
GNPTGMucolipidosis III gamma
GNRHRHypogonadotropic hypogonadism, type 7, without anosmia
GNSMucopolysaccharidosis, type 3D (Sanfilippo syndrome D)
GORABGeroderma osteodysplasticum
GOSR2Epilepsy, progressive myoclonic, type 6
GP1BABernard-Soulier syndrome, type A1
GP1BBBernard-Soulier syndrome, type B
GP6Bleeding disorder, platelet-type, type 11
GP9Bernard-Soulier syndrome, type C
GPC3Simpson-Golabi-Behmel syndrome, type 1
GPC6Omodysplasia, type 1
GPD1Hypertriglyceridemia, transient infantile
GPHNMolybdenum cofactor deficiency C
GPIHemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency
GPIHBP1Hyperlipoproteinemia, type 1D
GPR143Ocular albinism, type 1 (Nettleship-Falls type)
GPR179Night blindness, congenital stationary (complete), type 1E, autosomal recessive
GPR68Amelogenesis imperfecta, type 2A6 (hypomaturation type)
GPSM2Chudley-McCullough syndrome
GPX4Spondylometaphyseal dysplasia, Sedaghatian type
GRHL2Ectodermal dysplasia/short stature syndrome
GRHPRHyperoxaluria, primary, type 2
GRIA3Mental retardation, X-linked, type 94
GRIK2Mental retardation, autosomal recessive, type, 6
GRIN1Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
GRIP1Fraser syndrome 3
GRM1Spinocerebellar ataxia, autosomal recessive, type 13
GRM6Night blindness, congenital stationary (complete), type 1B, autosomal recessive
GRNCeroid lipofuscinosis, neuronal, 11
GRXCR1Deafness, autosomal recessive, type 25
GSCShort stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
GSSGlutathione synthetase deficiency
GTF2H5Trichothiodystrophy, type 3, photosensitive
GUCY2CMeconium ileus
GUCY2DLeber congenital amaurosis, type 1
GUSBMucopolysaccharidosis, type 7
GYG1Polyglucosan body myopathy, type 2
GYS1Glycogen storage disease, type 0, muscle
GYS2Glycogen storage disease, type 0, liver
H6PDCortisone reductase deficiency 1
HACE1Spastic paraplegia and psychomotor retardation with or without seizures
HADH3-hydroxyacyl-CoA dehydrogenase deficiency
HADHALCHAD deficiency
HADHBTrifunctional protein deficiency
HAMPHemochromatosis, type 2B
HARSUsher syndrome, type 3B
HAX1Neutropenia, severe congenital, type 3, autosomal recessive
HBA1Thalassemia, alpha-
HBA2Thalassemia, alpha-
HBBHBB-related hemoglobinopathy
HCCSLinear skin defects with multiple congenital anomalies, type 1
HDAC8Cornelia de Lange syndrome 5
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts 2A
HERC2Mental retardation, autosomal recessive, type 38
HES7Spondylocostal dysostosis, type 4, autosomal recessive
HESX1Growth hormone deficiency with pituitary anomalies
HEXATay-Sachs disease
HEXBSandhoff disease, infantile, juvenile, and adult forms
HGFDeafness, autosomal recessive, type 39
HGSNATMucopolysaccharidosis type 3C (Sanfilippo syndrome C)
HIBCH3-hydroxyisobutryl-CoA hydrolase deficiency
HK1Charcot-Marie-Tooth disease, type 4G
HLCSHolocarboxylase synthetase deficiency
HMGCLHMG-CoA lyase deficiency
HMGCS2HMG-CoA synthase-2 deficiency
HMX1Oculoauricular syndrome
HNMTMental retardation, autosomal recessive, type 51
HOGA1Hyperoxaluria, primary, type 3
HOXA1Athabaskan brainstem dysgenesis syndrome
HPDTyrosinemia, type 3
HPGDHypertrophic osteoarthropathy, primary, type 1 (pachydermoperiostosis)
HPRT1Lesch-Nyhan syndrome
HPS1Hermansky-Pudlak syndrome, type 1
HPS3Hermansky-Pudlak syndrome 3
HPS4Hermansky-Pudlak syndrome 4
HPS5Hermansky-Pudlak syndrome 5
HPS6Hermansky-Pudlak syndrome 6
HPSE2Urofacial syndrome, type 1
HRAlopecia universalis; Atrichia with papular lesions
HSD11B2Apparent mineralocorticoid excess
HSD17B10HSD10 mitochondrial disease
HSD17B346,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
HSD17B4D-bifunctional protein deficiency
HSD3B2Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
HSD3B7Bile acid synthesis defect, congenital, type 1
HSPA9Even-plus syndrome
HSPD1Leukodystrophy, hypomyelinating, type 4
HSPG2Dyssegmental dysplasia, Silverman-Handmaker type
HTRA23-methylglutaconic aciduria, type 8
HUWE1Mental retardation, X-linked syndromic, Turner type
HYLS1Hydrolethalus syndrome
IDH3BRetinitis pigmentosa, type 46
IDSMucopolysaccharidosis, type 2
IDUAMucopolysaccharidosis, type 1H; Mucopolysaccharidosis, type 1H/S; Mucopolysaccharidosis, type 1S
IER3IP1Microcephaly, epilepsy, and diabetes syndrome
IFNGR1Immunodeficiency, type 27A, mycobacteriosis
IFNGR2Immunodeficiency, type 28, mycobacteriosis
IFT122Cranioectodermal dysplasia 1
IFT140Retinitis pigmentosa, type 80; Short-rib thoracic dysplasia 9 with or without polydactyly
IFT80Short-rib thoracic dysplasia, type 2, with or without polydactyly
IGF1Growth retardation with deafness and mental retardation due to IGF1 deficiency
IGF1RInsulin-like growth factor I, resistance to
IGFALSAcid-labile subunit deficiency
IGFBP7Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
IGHMBP2Charcot-Marie-Tooth disease, axonal, type 2S
IGLL1Agammaglobulinemia 2
IHHAcrocapitofemoral dysplasia
IKBKGImmunodeficiency, type 33
IL10RAInflammatory bowel disease, type 28, early onset, autosomal recessive
IL10RBInflammatory bowel disease, type 25, early onset, autosomal recessive
IL11RACraniosynostosis and dental anomalies
IL12BImmunodeficiency, type 29, mycobacteriosis
IL12RB1Immunodeficiency, type 30
IL17RAImmunodeficiency, type 51
IL1RAPL1Mental retardation, X-linked, type 21/34
IL1RNSterile multifocal osteomyelitis with periostitis and pustulosis
IL21RImmunodeficiency, type 56
IL2RAImmunodeficiency, type 41 with lymphoproliferation and autoimmunity
IL2RGSevere combined immunodeficiency, X-linked
IL36RNPsoriasis, type 14, pustular
IL7RSevere combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type
ILDR1Deafness, autosomal recessive, type 42
IMPAD1Chondrodysplasia with joint dislocations, GPAPP type
IMPG2Retinitis pigmentosa, type 56
INPP5EJoubert syndrome, type 1
INSPermanent neonatal diabetes mellitus (PNDM)
INSRDiabetes mellitus, insulin-resistant, with acanthosis nigricans, type A
INVSNephronophthisis, type 2, infantile
IQCB1Senior-Loken syndrome, type 5
IQSEC2Mental retardation, X-linked, type 1/78
IRAK4IRAK4 deficiency
IRF8Immunodeficiency, type 32B, monocyte and dendritic cell deficiency, autosomal recessive
IRX5Hamamy syndrome
ISCUMyopathy with lactic acidosis, hereditary
ISPDMuscular dystrophy-dystroglycanopathy, type A7; Muscular dystrophy-dystroglycanopathy, type C7
ITCHAutoimmune disease, multisystem, with facial dysmorphism
ITGA2BGlanzmann thrombasthenia
ITGA3Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
ITGA6Epidermolysis bullosa, junctional, with pyloric stenosis
ITGA7Muscular dystrophy, congenital, due to ITGA7 deficiency
ITGB2Leukocyte adhesion deficiency
ITGB3Glanzmann thrombasthenia
ITGB4Epidermolysis bullosa, junctional, with pyloric atresia
ITKLymphoproliferative syndrome 1
ITPAEpileptic encephalopathy, early infantile, type 35
ITPR1Gillespie syndrome
IVDIsovaleric acidemia
IYDThyroid dyshormonogenesis, type 4
JAK3Severe Combined Immunodeficiency, autosomal recessive, T-negative/B-positive type
JAM3Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
JUPNaxos disease
KARSDeafness, autosomal recessive, type 89
KCNE1Jervell and Lange-Nielsen syndrome 2
KCNJ1Bartter syndrome, type 2
KCNJ10SESAME syndrome
KCNJ11Hyperinsulinemic hypoglycemia, type 2 (congenital hyperinsulinism); Permanent neonatal diabetes mellitus (PNDM)
KCNJ13Leber congenital amaurosis, type 16
KCNV2Retinal cone dystrophy, type 3B
KCTD7Epilepsy, progressive myoclonic, type 3, with or without intracellular inclusions
KDM5CMental retardation, X-linked, syndromic, Claes-Jensen type
KDM6AKabuki syndrome, type 2
KERACornea plana 2, autosomal recessive
KHDC3LHydatidiform mole, recurrent, type 2
KIF1ANeuropathy, hereditary sensory, type 2C; Spastic paraplegia, type 30, autosomal recessive
KIF1BPGoldberg-Shprintzen megacolon syndrome
KIF7Acrocallosal syndrome; Joubert syndrome, type 12
KISS1RHypogonadotropic hypogonadism, type 8, with or without anosmia
KLHL3Pseudohypoaldosteronism, type 2D
KLHL7Cold-induced sweating syndrome 3
KLK4Amelogenesis imperfecta, type 2A1
KLKB1Fletcher factor (prekallikrein) deficiency
KNL1Microcephaly 4, primary, autosomal recessive
KRT10Epidermolytic hyperkeratosis
KRT14Epidermolysis bullosa simplex, autosomal recessive, type 1
KRT5Epidermolysis bullosa simplex, autosomal recessive, type 1
KYNUVertebral, cardiac, renal, and limb defects syndrome, type 2
L1CAML1 Syndrome
L2HGDHL-2-hydroxyglutaric aciduria
LAMA1Poretti-Boltshauser syndrome
LAMA2LAMA2-related muscular dystrophy
LAMA3Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type
LAMB1Lissencephaly, type 5
LAMB2Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities
LAMB3Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type
LAMC2Junctional epidermolysis bullosa (JEB) Herlitz type; JEB non-Herlitz type
LAMC3Cortical malformations, occipital
LAMP2Danon disease
LARGE1Muscular dystrophy-dystroglycanopathy, type 6A and 6B
LARS2Perrault syndrome, type 4
LBRGreenberg skeletal dysplasia
LCA5Leber congenital amaurosis, type 5
LCATFamilial LCAT deficiency; Fish-eye disease
LCTLactase deficiency, congenital
LDHAGlycogen storage disease type 11
LDLRAP1Hypercholesterolemia, familial, autosomal recessive
LEPObesity, morbid, due to leptin deficiency
LEPRObesity, morbid, due to leptin receptor deficiency
LHBHypogonadotropic hypogonadism, type 23, with or without anosmia
LHCGRLeydig cell hypoplasia
LHFPL5Deafness, autosomal recessive type 67
LHX3Pituitary hormone deficiency, combined, type 3
LIASHyperglycinemia, lactic acidosis, and seizures
LIFRStuve-Wiedemann syndrome / Schwartz-Jampel type 2 syndrome
LIG4LIG4 syndrome
LINS1Mental retardation, autosomal recessive, type 27
LIPALysosomal acid lipase deficiency
LIPELipodystrophy, familial partial, type 6
LIPHHypotrichosis, type 7 or woolly hair, autosomal recessive, type 2, with or without hypotrichosis
LMAN1Combined deficiency of factor V and factor VIII, type 1
LMBRD1Methylmalonic aciduria and homocystinuria, cblF type
LMF1Lipase deficiency, combined
LMNALMNA-related disorders, autosomal recessive
LOXHD1Deafness, autosomal recessive type 77
LPAR6Hypotrichosis, type 8 or woolly hair, autosomal recessive, type 1, with or without hypotrichosis
LPIN1Myoglobinuria, acute recurrent, autosomal recessive
LPIN2Majeed syndrome
LPLLipoprotein lipase deficiency
LRATLeber congenital amaurosis type 14
LRMDAAlbinism, oculocutaneous, type 7
LRP2Donnai-Barrow syndrome
LRP4Cenani-Lenz syndactyly syndrome
LRP5Osteoporosis-pseudoglioma syndrome
LRPAP1Myopia, type 23, autosomal recessive
LRPPRCLeigh syndrome, French-Canadian type
LRRC6Ciliary dyskinesia, primary, type 19
LRSAM1Charcot-Marie-Tooth disease, axonal, type 2P
LRTOMTDeafness, autosomal recessive type 63
LTBP2Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
LTBP3Dental anomalies and short stature
LTBP4Cutis laxa, autosomal recessive, type 1C
LYSTChediak-Higashi syndrome
LZTFL1Bardet-Biedl syndrome, type 17
MAGI2Nephrotic syndrome, type 15
MAGT1Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
MAKRetinitis pigmentosa type 62
MAMLD1Hypospadias 2, X-linked
MAN1B1Mental retardation, autosomal recessive, type 15
MAN2B1Mannosidosis, alpha-, types I and II
MANBAMannosidosis, beta
MAOABrunner syndrome
MAPTSupranuclear palsy, progressive atypical (parkinsonism syndrome)
MARS2Spastic ataxia, type 3, autosomal recessive
MARVELD2Deafness, autosomal recessive type 49
MASP13MC syndrome 1
MAT1AMethionine adenosyltransferase deficiency, autosomal recessive
MBTPS2IFAP/BRESHECK syndrome; Osteogenesis imperfecta, type 19
MC2RGlucocorticoid deficiency, due to ACTH unresponsiveness
MCCC13-Methylcrotonyl-CoA carboxylase type 1 deficiency
MCCC23-Methylcrotonyl-CoA carboxylase type 2, deficiency
MCEEMethylmalonyl-CoA epimerase deficiency
MCFD2Combined deficiency of factor V and factor VIII, type 2
MCM3APPeripheral neuropathy, autosomal recessive, with or without impaired intellectual development
MCOLN1Mucolipidosis type 4
MCPH1Microcephaly type 1, primary, autosomal recessive
MECP2Encephalopathy, neonatal severe
MED12Lujan-Fryns syndrome
MED23Mental retardation, autosomal recessive, type 18
MED25Basel-Vanagait-Smirin-Yosef syndrome
MEFVFamilial Mediterranean fever
MEGF10Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
MERTKRetinitis pigmentosa type 38
MESP2Spondylocostal dysostosis, type 2, autosomal recessive
MFFEncephalopathy due to defective mitochondrial and peroxisomal fission, type 2
MFN2Charcot-Marie-Tooth disease, axonal, type 2A2B
MFRPMicrophthalmia, isolated type 5
MFSD2AMicrocephaly 15, primary, autosomal recessive
MFSD8Ceroid lipofuscinosis, neuronal, type 7
MGAT2Congenital disorder of glycosylation, type 2a
MGPKeutel syndrome
MID1Opitz GBBB syndrome, type 1
MKKSBardet-Biedl syndrome type 6
MKS1Bardet-Biedl syndrome type 13; Meckel syndrome, type 1
MLC1Megalencephalic leukoencephalopathy with subcortical cysts
MLPHGriscelli syndrome, type 3
MLYCDMalonyl-CoA decarboxylase deficiency
MMAAMethylmalonic aciduria, vitamin B12-responsive
MMABMethylmalonic aciduria, vitamin B12-responsive, type cblB
MMACHCMethylmalonic aciduria and homocystinuria, cblC type
MMADHCHomocystinuria, cblD type, variant 1
MMECharcot-Marie-Tooth disease, axonal, type 2T
MMP13Metaphyseal dysplasia, Spahr type
MMP2Multicentric osteolysis, nodulosis, and arthropathy
MMP20Amelogenesis imperfecta, type 2A2
MMUTMethylmalonic aciduria, mut(0) type
MOCOSXanthinuria, type 2
MOCS1Molybdenum cofactor deficiency A
MOCS2Molybdenum cofactor deficiency B
MOGSCongenital disorder of glycosylation, type 2B
MPDU1Congenital disorder of glycosylation, type 1F
MPDZHydrocephalus, congenital, type 2, with or without brain or eye anomalies
MPICongenital disorder of glycosylation, type 1b
MPLThrombocytopenia, congenital amegakaryocytic
MPLKIPTrichothiodystrophy, type 4, nonphotosensitive
MPOMyeloperoxidase deficiency
MPV17Mitochondrial DNA depletion syndrome type 6 (hepatocerebral); Charcot-Marie-Tooth disease, axonal, type 2EE
MRAPGlucocorticoid deficiency, type 2
MRE11Ataxia-telangiectasia-like disorder 1
MRPS16Combined oxidative phosphorylation deficiency 2
MRPS22Combined oxidative phosphorylation deficiency type 5
MSH3Familial adenomatous polyposis, type 4
MSMO1Microcephaly, congenital cataract, and psoriasiform dermatitis
MSRB3Deafness, autosomal recessive, type 74
MTFMTCombined oxidative phosphorylation deficiency 15
MTHFD1Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
MTM1Myotubular myopathy, X-linked
MTMR2Charcot-Marie-Tooth disease, type 4B1
MTO1Combined oxidative phosphorylation deficiency 10
MTRHomocystinuria-megaloblastic anemia, cblG complementation type
MTRRHomocystinuria-megaloblastic anemia, cbl E type
MUSKFetal akinesia deformation sequence, type 1; Myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency
MVKMevalonic aciduria
MYBPC1Lethal congenital contracture syndrome, type 4
MYD88Pyogenic bacterial infections, recurrent, due to MYD88 deficiency
MYH2Proximal myopathy and ophthalmoplegia
MYO15ADeafness, autosomal recessive type 3
MYO18BKlippel-Feil syndrome, type 4, autosomal recessive, with myopathy and facial dysmorphism
MYO3ADeafness, autosomal recessive type 30
MYO5AGriscelli syndrome, type 1
MYO5BMicrovillus inclusion disease
MYO7AUsher syndrome, type 1B; Deafness, autosomal recessive, type 2
MYPNNemaline myopathy, type 11, autosomal recessive
NAA10Ogden syndrome
NAGASchindler disease, type I
NAGLUMucopolysaccharidosis, type 3B (Sanfilippo B)
NAGSN-acetylglutamate synthase deficiency
NARS2Combined oxidative phosphorylation deficiency 24
NBASInfantile liver failure syndrome, type 2; Short stature, optic nerve atrophy, and Pelger-Huet anomaly
NBEAL2Gray platelet syndrome
NBNNijmegen breakage syndrome
NCF1Chronic granulomatous disease due to deficiency of NCF-1
NCF2Chronic granulomatous disease due to deficiency of NCF-2
NDE1Lissencephaly, type 4 (with microcephaly)
NDPNorrie disease
NDRG1Charcot-Marie-Tooth disease, type 4D
NDST1Mental retardation, autosomal recessive, type 46
NDUFA10Mitochondrial complex I deficiency, nuclear type 22
NDUFA11Mitochondrial complex I deficiency, nuclear type 14
NDUFA12?Mitochondrial complex I deficiency, nuclear type 23
NDUFAF1Mitochondrial complex I deficiency, nuclear type 11
NDUFAF2Mitochondrial complex I deficiency, nuclear type 10
NDUFAF3Mitochondrial complex I deficiency, nuclear type 18
NDUFAF5Mitochondrial complex I deficiency, nuclear type 16
NDUFAF6Mitochondrial complex I deficiency, nuclear type 17
NDUFB3Mitochondrial complex I deficiency, nuclear type 25
NDUFS1Mitochondrial complex I deficiency, nuclear type 5
NDUFS2Mitochondrial complex I deficiency, nuclear type 6
NDUFS3Mitochondrial complex I deficiency, nuclear type 8
NDUFS4Mitochondrial complex I deficiency, nuclear type 1
NDUFS6Mitochondrial complex I deficiency, nuclear type 9
NDUFS7Mitochondrial complex I deficiency, nuclear type 3
NDUFS8Mitochondrial complex I deficiency, nuclear type 2
NDUFV1Mitochondrial complex I deficiency, nuclear type 4
NEBNemaline myopathy type 2, autosomal recessive
NECTIN1Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7
NECTIN4Ectodermal dysplasia-syndactyly syndrome, type 1
NEFLCharcot-Marie-Tooth disease, type 1F
NEK1Short-rib thoracic dysplasia, type 6, with or without polydactyly
NEK8Renal-hepatic-pancreatic dysplasia, type 2
NEU1Sialidosis, type 1 and type 2
NEUROG3Diarrhea type 4, malabsorptive, congenital
NFU1Multiple mitochondrial dysfunctions syndrome 1
NGFNeuropathy, hereditary sensory and autonomic, type 5
NHEJ1Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NHLRC1Epilepsy, progressive myoclonic, type 2B (Lafora)
NHP2Dyskeratosis congenita, autosomal recessive type 2
NHSCataract 40, X-linked
NIPAL4Ichthyosis, congenital, autosomal recessive, type 6
NKX2-6Conotruncal heart malformations
NLGN4XMental retardation, X-linked
NLRP1Autoinflammation with arthritis and dyskeratosis
NLRP7Hydatidiform mole, recurrent, type 1
NME8Ciliary dyskinesia, primary, type 6
NMNAT1Leber congenital amaurosis type 9
NOP10Dyskeratosis congenita, autosomal recessive type 1
NPC1Niemann-Pick disease, type C1
NPC2Niemann-pick disease, type C2
NPHP1Joubert syndrome type 4
NPHP3Meckel syndrome type 7
NPHP4Nephronophthisis type 4
NPHS1Nephrotic syndrome, type 1
NPHS2Nephrotic syndrome, type 2
NPR2Acromesomelic dysplasia, Maroteaux type
NR0B1Adrenal hypoplasia, congenital
NR1H4Cholestasis, progressive familial intrahepatic, type 5
NR2E3Enhanced S-cone syndrome (Goldmann-Favre); Retinitis pigmentosa, type 37
NRLRetinal degeneration, autosomal recessive, clumped pigment type
NRXN1Pitt-Hopkins-like syndrome, type 2
NSUN2Mental retardation, autosomal recessive, type 5
NT5C3AAnemia, hemolytic, due to UMPH1 deficiency
NT5ECalcification of joints and arteries
NTHL1Familial adenomatous polyposis, type 3
NTRK1Insensitivity to pain, congenital, with anhidrosis
NUBPLMitochondrial complex I deficiency, nuclear type 21
NUP62Striatonigral degeneration, infantile
NYXNight blindness, congenital stationary (complete), type 1A, X-linked
OATGyrate atrophy of choroid and retina
OBSL13-M syndrome 2
OCA2Oculocutaneous albinism type 2
OCLNPseudo-TORCH syndrome, type 1
OCRLLowe Syndrome; Dent disease type 2
OFD1Joubert syndrome type 10; Orofaciodigital syndrome type 1
OPA1Behr syndrome
OPA33-methylglutaconic aciduria, type 3
OPHN1Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
OPTNAmyotrophic lateral sclerosis, type 12
ORC1Meier-Gorlin syndrome, type 1
ORC4Meier-Gorlin syndrome, type 2
ORC6Meier-Gorlin syndrome, type 3
OSTM1Osteopetrosis, autosomal recessive type 5
OTCOrnithine transcarbamylase deficiency
OTOADeafness, autosomal recessive type 22
OTOFAuditory neuropathy, autosomal recessive, type 1
OXCT1Succinyl CoA:3-oxoacid CoA transferase deficiency
P2RY12Bleeding disorder, platelet-type, type 8
P3H1Osteogenesis imperfecta, type 8
P3H2Myopia, high, with cataract and vitreoretinal degeneration
PAK3Mental retardation, X-linked, type 30
PANK2Neurodegeneration with brain iron accumulation type 1
PAPSS2Brachyolmia, type 4, with mild epiphyseal and metaphyseal changes
PARK7Parkinson disease, type 7, autosomal recessive, early-onset
PCPyruvate carboxylase deficiency
PCBD1Hyperphenylalaninemia, BH4-deficient, type D
PCCAPropionic acidemia
PCCBPropionic acidemia
PCDH15Deafness, autosomal recessive type 23; Usher syndrome, type 1D/F digenic
PCDH19Epileptic encephalopathy, early infantile, type 9
PCNTMicrocephalic osteodysplastic primordial dwarfism, type 2
PCSK1Obesity with impaired prohormone processing
PDE10ADyskinesia, limb and orofacial, infantile-onset
PDE6ARetinitis pigmentosa type 43
PDE6BRetinitis pigmentosa type 40
PDE6CCone dystrophy type 4
PDE6GRetinitis pigmentosa type 57
PDE6HRetinal cone dystrophy 3
PDHA1Pyruvate dehydrogenase E1-alpha deficiency
PDHBPyruvate dehydrogenase E1-beta deficiency
PDHXLacticacidemia due to PDX1 deficiency
PDP1Pyruvate dehydrogenase phosphatase deficiency
PDSS1Coenzyme Q10 deficiency, primary, type 2
PDSS2Coenzyme Q10 deficiency, primary, type 3
PDX1Pancreatic agenesis type 1
PDZD7Usher syndrome, type 2C, GPR98/PDZD7 digenic
PEPDProlidase deficiency
PEX1Heimler syndrome type 1
PEX10Peroxisome biogenesis disorder, type 6A (Zellweger syndrome); Peroxisome biogenesis disorder, type 6B
PEX12Peroxisome biogenesis disorder type 3A (Zellweger)
PEX13Peroxisome biogenesis disorder, type 11A (Zellweger syndrome); Peroxisome biogenesis disorder, type 11B
PEX14Peroxisome biogenesis disorder, type 13A (Zellweger syndrome)
PEX16Peroxisome biogenesis disorder, type 8A (Zellweger syndrome); Peroxisome biogenesis disorder, type 8B
PEX19Peroxisome biogenesis disorder, type 12A (Zellweger syndrome)
PEX2Peroxisome biogenesis disorder type 5A (Zellweger)
PEX26Peroxisome biogenesis disorder type 7A (Zellweger)
PEX3Peroxisome biogenesis disorder, type 10A (Zellweger syndrome)
PEX5Peroxisome biogenesis disorder type 2A (Zellweger)
PEX6Peroxisome biogenesis disorder, type 4A (Zellweger syndrome); Peroxisome biogenesis disorder, type 4B; Heimler syndrome 2
PEX7Rhizomelic chondrodysplasia punctata, type 1
PFKMGlycogen storage disease, type 7
PGK1Phosphoglycerate kinase 1 deficiency
PGM1Congenital disorder of glycosylation, type 1t
PHEXHypophosphatemic rickets, X-linked dominant
PHF6Borjeson-Forssman-Lehmann syndrome
PHF8Mental retardation syndrome, X-linked, Siderius type
PHGDHNeu-Laxova syndrome, type 1; Phosphoglycerate dehydrogenase deficiency
PHKA1Glycogen storage disease, type 9D
PHKA2Glycogen storage disease, type 9A1 and type 9A2
PHKBGlycogen storage disease, type 9B
PHKG2Glycogen storage disease type 9c
PHYHRefsum disease
PIEZO1Lymphedema, hereditary, type 3
PIEZO2Arthrogryposis, distal, with impaired proprioception and touch
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome, type 2
PIGLZunich neuroectodermal syndrome
PIGNMultiple congenital anomalies-hypotonia-seizures syndrome, type 1
PIGOHyperphosphatasia with mental retardation syndrome 2
PINK1Parkinson disease, type 6, early onset
PIP5K1CLethal congenital contractural syndrome, type 3
PJVKDeafness, autosomal recessive type 59
PKHD1Polycystic kidney disease type 4
PKLRPyruvate kinase deficiency
PKP1Ectodermal dysplasia/skin fragility syndrome
PLA2G6Infantile neuroaxonal dystrophy type 1
PLCB1Epileptic encephalopathy, early infantile, type 12
PLCB4Auriculocondylar syndrome, type 2
PLCD1Nail disorder, nonsyndromic congenital, type 3 (leukonychia)
PLCE1Nephrotic syndrome, type 3
PLECEpidermolysis bullosa simplex with muscular dystrophy
PLEKHG5Charcot-Marie-Tooth disease, recessive intermediate C
PLGPlasminogen deficiency, type I
PLOD1Ehlers-Danlos syndrome, kyphoscoliotic type, 1
PLOD2Bruck syndrome 2
PLOD3Lysyl hydroxylase 3 deficiency
PLP1Pelizaeus-Merzbacher disease
PMM2Congenital disorder of glycosylation, type 1A
PMP22Dejerine-Sottas disease
PNKPAtaxia-oculomotor apraxia, type 4; Microcephaly, seizures, and developmental delay
PNPImmunodeficiency due to purine nucleoside phosphorylase deficiency
PNPLA1Ichthyosis, congenital, autosomal recessive, type 10
PNPLA2Neutral lipid storage disease with myopathy
PNPLA6Boucher-Neuhauser syndrome; Oliver-McFarlane syndrome; Spastic paraplegia, type 39, autosomal recessive
PNPOPyridoxamine 5'-phosphate oxidase deficiency
POLGPOLG-related disorders
POLHXeroderma pigmentosum, variant type
POLR1CLeukodystrophy, hypomyelinating, type 11; Treacher Collins syndrome 3
POLR1DTreacher Collins syndrome, type 2
POLR3ALeukodystrophy, hypomyelinating, type 7
POLR3BLeukodystrophy, hypomyelinating, type 8
POMCObesity, adrenal insufficiency, and red hair due to POMC deficiency
POMGNT1Muscular dystrophy-dystroglycanopathy, type 3A (Walker-Warburg syndrome); Type 3B; Type 3C (limb-girdle muscular dystrophy, type 15 [LGMDR15])
POMGNT2Muscular dystrophy-dystroglycanopathy, type 8A (Walker-Warburg syndrome); Type 8C (limb-girdle muscular dystrophy, type 24 [LGMD R24])
POMPKeratosis linearis with ichthyosis congenita and sclerosing keratoderma
POMT1Muscular dystrophy-dystroglycanopathy, type 1A (Walker-Warburg syndrome); Type 1B; Type 1C (limb-girdle muscular dystrophy, type 11 [LGMD R11])
POMT2Muscular dystrophy-dystroglycanopathy, type 2A (Walker-Warburg syndrome); Type 2B; Type 2C (limb-girdle muscular dystrophy, type 14 [LGMD R14])
POP1Anauxetic dysplasia, type 2
PORAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis
PORCNFocal dermal hypoplasia
POU1F1Pituitary hormone deficiency, combined, type 1
POU3F4Deafness, X-linked type 2 (DFNX2)
PPIBOsteogenesis imperfecta, type 9
PPT1Ceroid lipofuscinosis, neuronal, type 1
PQBP1Renpenning syndrome
PRCDRetinitis pigmentosa, type 36
PRDM5Brittle cornea syndrome, type 2
PREPLMyasthenic syndrome, congenital, type 22
PRF1Hemophagocytic lymphohistiocytosis, familial, type 2
PRG4Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PRICKLE1Epilepsy, progressive myoclonic, type 1B
PRKNParkinson disease, type 2, juvenile
PRKRADystonia, type 16
PRMT7Short stature, brachydactyly, intellectual developmental disability, and seizures
PROCThrombophilia due to protein C deficiency, autosomal recessive
PRODHHyperprolinemia, type 1
PROM1Retinitis pigmentosa, type 41
PROP1Pituitary hormone deficiency, combined, type 2
PROS1Thrombophilia due to protein S deficiency, autosomal recessive
PRPH2Leber congenital amaurosis 18; Retinitis punctata albescens
PRPS1Deafness, X-linked 1 (DFNX1); Arts syndrome; PRPS1-related disorders
PRRX1Agnathia-otocephaly complex
PRSS1Trypsinogen deficiency
PRSS12Mental retardation, autosomal recessive, type 1
PRSS56Microphthalmia, isolated, type 6
PRXCharcot-Marie-Tooth disease, type 4F
PSAPCombined SAP deficiency
PSAT1Neu-Laxova syndrome, type 2
PSMB8Autoinflammation, lipodystrophy, and dermatosis syndrome
PSPHPhosphoserine phosphatase deficiency
PTHHypoparathyroidism, autosomal recessive
PTH1RChondrodysplasia, Blomstrand type; Eiken syndrome
PTPRCSevere combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive
PTPRQDeafness, autosomal recessive, type 84A
PTSHyperphenylalaninemia, BH4-deficient, type A
PUS1Myopathy, lactic acidosis, and sideroblastic anemia, type 1
PXDNAnterior segment dysgenesis, type 7, with sclerocornea
PYCR1Cutis laxa, autosomal recessive, type 2B
PYGLGlycogen storage disease, type 6
PYGMMcArdle disease
QDPRHyperphenylalaninemia, BH4-deficient, type C
RAB18Warburg micro syndrome, type 3
RAB23Carpenter syndrome
RAB27AGriscelli syndrome, type 2
RAB28Cone-rod dystrophy 18
RAB39BMental retardation, X-linked, type 72; Waisman syndrome
RAB3GAP1Warburg micro syndrome, type 1
RAB3GAP2Martsolf syndrome
RAG1Omenn syndrome; Severe combined immunodeficiency, B cell-negative
RAG2Omenn syndrome; Severe combined immunodeficiency, B cell-negative
RAPSNFetal akinesia deformation sequence; Myasthenic syndrome, congenital, 11, associated with AChR deficiency
RARS2Pontocerebellar hypoplasia, type 6
RAXIsolated microphthalmia, type 3
RBBP8Jawad syndrome; Seckel syndrome, type 2
RBM10TARP syndrome
RBM8AThrombocytopenia-absent radius syndrome
RBP4Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
RD3Leber congenital amaurosis 12
RDH12Leber congenital amaurosis, type 13
RDH5Fundus albipunctatus
RDXDeafness, autosomal recessive, type 24
RECQL4Baller-Gerold syndrome; RAPADILINO syndrome; Rothmund-Thomson syndrome
RELNLissencephaly 2 (Norman-Roberts type)
RENRenal tubular dysgenesis
RETREG1Neuropathy, hereditary sensory and autonomic, type 2B
RFX6Mitchell-Riley syndrome
RFXANKBare lymphocyte syndrome, type 2, complementation group B
RGRRetinitis pigmentosa, type 44
RHORetinitis pigmentosa, type 4, autosomal recessive; Fundus albipunctatus
RIN2Macs syndrome
RIPK4Popliteal pterygium syndrome, Bartsocas-Papas type
RLBP1Bothnia retinal dystrophy; Fundus albipunctatus
RMRPAnauxetic dysplasia, type 1
RNASEH2AAicardi-Goutieres syndrome 4
RNASEH2BAicardi-Goutieres syndrome 2
RNASEH2CAicardi-Goutieres syndrome 3
RNF168RIDDLE syndrome
ROBO3Gaze palsy, familial horizontal, with progressive scoliosis, type 1
ROGDIKohlschutter-Tonz syndrome
ROM1Retinitis pigmentosa, type 7, digenic
ROR2Robinow syndrome, autosomal recessive
RP1Retinitis pigmentosa, type 1
RP2Retinitis pigmentosa, type 2, X-linked
RPE65Leber congenital amaurosis, type 2
RPGRRetinitis pigmentosa, type 3, X-linked
RPGRIP1Leber congenital amaurosis 6
RPGRIP1LJoubert syndrome, type 7; Meckel syndrome, type 5; COACH syndrome
RPL10Mental retardation, X-linked, syndromic, type 35
RPS6KA3Mental retardation, X-linked, type 19
RRM2BMitochondrial DNA depletion syndrome, type 8A (encephalomyopathic type with renal tubulopathy) and type 8B (MNGIE type)
RSPH4ACiliary dyskinesia, primary, type 11
RSPH9Ciliary dyskinesia, primary, type 12
RSPO4Anonychia congenita
RTEL1Dyskeratosis congenita, autosomal recessive 5
RYR1Minicore myopathy with external ophthalmoplegia
SACSSpastic ataxia, Charlevoix-Saguenay, type
SAGOguchi disease, type 1
SAMHD1Aicardi-Goutieres syndrome 5
SAR1BChylomicron retention disease
SARS2Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SBDSShwachman-Diamond syndrome
SBF2Charcot-Marie-Tooth disease, type 4B2
SCARB2Epilepsy, progressive myoclonic, type 4, with or without renal failure
SCARF2Van den Ende-Gupta syndrome
SCN1BEpileptic encephalopathy, early infantile, type 52
SCN4AMyasthenic syndrome, congenital, type 16
SCN9AIndifference to pain and autosomal recessive hereditary sensory neuropathy type 2D
SCNN1APseudohypoaldosteronism, type 1
SCNN1BPseudohypoaldosteronism, type 1
SCNN1GPseudohypoaldosteronism, type 1
SCO1Mitochondrial complex IV deficiency
SCO2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, type 1
SDCCAG8Bardet-Biedl syndrome, type 16
SDHAMitochondrial respiratory chain complex II deficiency; Leigh syndrome
SDHAF1Mitochondrial complex II deficiency
SEC23ACraniolenticulosutural dysplasia
SEC23BDyserythropoietic anemia, congenital, type 2
SECISBP2Thyroid hormone metabolism, abnormal
SELENONMuscular dystrophy, rigid spine, type 1
SEMA4ACone-rod dystrophy, type 10; Retinitis pigmentosa, type 35
SEPSECSPontocerebellar hypoplasia, type 2D
SERPINC1Thrombophilia due to antithrombin III deficiency
SERPINE1Plasminogen activator inhibitor-1 deficiency
SERPINF1Osteogenesis imperfecta, type 6
SERPING1Angioedema, hereditary, types 1 and 2
SERPINH1Osteogenesis imperfecta, type 10
SETXSpinocerebellar ataxia, autosomal recessive, type 1
SFTPBSurfactant metabolism dysfunction, pulmonary, type 1
SGCALimb-girdle muscular dystrophy, type 3 (LGMD R3)
SGCBLimb-girdle muscular dystrophy, type 4 (LGMD R4)
SGCDLimb-girdle muscular dystrophy, type 6 (LGMD R6)
SGCGLimb-girdle muscular dystrophy, type 5 (LGMD R5)
SGSHMucopolysaccharidosis, type 3A (Sanfilippo A)
SH2D1ALymphoproliferative syndrome, X-linked, type 1
SH3PXD2BFrank-ter Haar syndrome
SH3TC2Charcot-Marie-Tooth disease, type 4C
SHOXLanger mesomelic dysplasia
SHROOM4Stocco dos Santos X-linked mental retardation syndrome
SISucrase-isomaltase deficiency, congenital
SIL1Marinesco-Sjogren syndrome
SIX6Optic disc anomalies with retinal and/or macular dystrophy
SKIV2LTrichohepatoenteric syndrome, type 2 (diarrhea, syndromic)
SLC10A2Bile acid malabsorption, primary
SLC12A1Bartter syndrome, type 1
SLC12A3Gitelman syndrome
SLC12A6Agenesis of the corpus callosum with peripheral neuropathy
SLC16A1Monocarboxylate transporter 1 deficiency
SLC16A2Allan-Herndon-Dudley syndrome
SLC17A5Salla disease
SLC19A2Thiamine-responsive megaloblastic anemia syndrome
SLC19A3Thiamine metabolism dysfunction syndrome, type 2 (biotin- or thiamine-responsive encephalopathy type)
SLC22A12Hypouricemia, renal
SLC22A5Carnitine deficiency, systemic primary
SLC24A1Night blindness, congenital stationary (complete), type 1D, autosomal recessive
SLC24A5Albinism, oculocutaneous, type 6
SLC25A12Epileptic encephalopathy, early infantile, type 39
SLC25A13Citrullinemia, adult-onset, type 2
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A19Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)
SLC25A20Carnitine-acylcarnitine translocase deficiency
SLC25A22Epileptic encephalopathy, early infantile, type 3
SLC25A3Mitochondrial phosphate carrier deficiency
SLC25A38Anemia, sideroblastic, type 2, pyridoxine-refractory
SLC25A4Mitochondrial DNA depletion syndrome, type 12B (cardiomyopathic type) AR
SLC26A2Achondrogenesis, type 1B (diastrophic dysplasia)
SLC26A3Diarrhea 1, secretory chloride, congenital
SLC26A4Deafness, autosomal recessive, type 4; Pendred syndrome
SLC27A4Ichthyosis prematurity syndrome
SLC29A3Histiocytosis-lymphadenopathy plus syndrome
SLC2A1GLUT1 deficiency syndrome 1, infantile onset, severe
SLC2A10Arterial tortuosity syndrome
SLC2A2Fanconi-Bickel syndrome
SLC2A9Hypouricemia, renal, type 2
SLC30A10Hypermanganesemia with dystonia, type 1
SLC33A1Congenital cataracts, hearing loss, and neurodegeneration
SLC34A1Hypercalcemia, infantile, type 2
SLC34A2Pulmonary alveolar microlithiasis
SLC34A3Hypophosphatemic rickets with hypercalciuria
SLC35A1Congenital disorder of glycosylation, type 2F
SLC35A3?Arthrogryposis, mental retardation, and seizures
SLC35C1Congenital disorder of glycosylation, type 2C
SLC35D1Schneckenbecken dysplasia
SLC37A4Glycogen storage disease, type 1b
SLC39A4Acrodermatitis enteropathica
SLC45A2Albinism, oculocutaneous, type 4
SLC46A1Folate malabsorption, hereditary
SLC4A1Distal renal tubular acidosis (dRTA) with hemolytic anemia
SLC4A11Corneal endothelial dystrophy, autosomal recessive
SLC4A4Renal tubular acidosis, proximal, with ocular abnormalities
SLC52A2Brown-Vialetto-Van Laere syndrome, type 2
SLC52A3Brown-Vialetto-Van Laere syndrome, type 1
SLC5A2Renal glucosuria
SLC5A5Thyroid dyshormonogenesis, type 1
SLC5A7Myasthenic syndrome, congenital, type 20, presynaptic
SLC6A19Hartnup disorder
SLC6A3Parkinsonism-dystonia, infantile
SLC6A5Hyperekplexia, type 3
SLC6A8Cerebral creatine deficiency syndrome, type 1
SLC7A7Lysinuric protein intolerance
SLC9A6Mental retardation, X-linked syndromic, Christianson type
SLCO2A1Hypertrophic osteoarthropathy, primary, autosomal recessive, type 2
SLURP1Meleda disease
SMARCAL1Schimke immunoosseous dysplasia
SMC1ACornelia de Lange syndrome 2
SMN1Spinal muscular atrophy
SMOC1Microphthalmia. with limb anomalies
SMOC2Dentin dysplasia, type 1, with microdontia and misshapen teeth
SMPD1Niemann-Pick disease, type A; Niemann-Pick disease, type B
SMPXDeafness, X-linked, type 4
SMSMental retardation, X-linked, Snyder-Robinson type
SNAP29Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
SNX10Osteopetrosis, autosomal recessive, type 8
SOD1Spastic tetraplegia and axial hypotonia, progressive; Amyotrophic lateral sclerosis, type 1
SOHLH1Ovarian dysgenesis 5
SOSTSclerosteosis, type 1; Van Buchem disease
SOX18Hypotrichosis-lymphedema-telangiectasia syndrome
SP110Hepatic venoocclusive disease with immunodeficiency
SPARTSpactic paraplegia, type 20, autosomal recessive
SPATA7Leber congenital amaurosis 3
SPG11Amyotrophic lateral sclerosis, type 5, juvenile
SPG21Mast syndrome
SPG7Spastic paraplegia, type 7, autosomal recessive
SPINK1Tropical calcific pancreatitis
SPINK5Netherton syndrome
SPINT2Diarrhea, type 3, secretory sodium, congenital, syndromic
SPRDystonia, dopa-responsive, due to sepiapterin reductase deficiency
SPTA1Pyropoikilocytosis; Apherocytosis, type 3
SPTBN2Spinocerebellar ataxia, autosomal recessive, type 14
SQSTM1Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
SRD5A246,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (pseudovaginal perineoscrotal hypospadias)
SRD5A3Congenital disorder of glycosylation, type 1Q; Kahrizi syndrome
ST14Ichthyosis, congenital, autosomal recessive, type 11
ST3GAL5Salt and pepper developmental regression syndrome
STARLipoid adrenal hyperplasia
STAT1Immunodeficiency, type 31B, mycobacterial and viral infections, autosomal recessive
STAT5BLaron syndrome with immunodeficiency
STILMicrocephaly, type 7, primary, autosomal recessive
STIM1Immunodeficiency, type 10
STK4T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
STRA6Microphthalmia, isolated, with coloboma, type 8
STRADAPolyhydramnios, megalencephaly, and symptomatic epilepsy
STRCDeafness, autosomal recessive, type 16
STSIchthyosis, X-linked
STX11Hemophagocytic lymphohistiocytosis, familial, type 4
STXBP2Hemophagocytic lymphohistiocytosis, familial, type 5
SUCLA2Mitochondrial DNA depletion syndrome, type 5 (encephalomyopathic with or without methylmalonic aciduria)
SUCLG1Mitochondrial DNA depletion syndrome, type 9 (encephalomyopathic, type with methylmalonic aciduria)
SUFUJoubert syndrome, type 32
SUGCTGlutaric aciduria, type 3
SULT2B1Ichthyosis, congenital, autosomal recessive, type 14
SUMF1Multiple sulfatase deficiency
SUOXSulfite oxidase deficiency
SURF1Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiency
SYN1Epilepsy, X-linked, with variable learning disabilities and behavior disorders
SYNE1Spinocerebellar ataxia, autosomal recessive, type 8
SYT14Spinocerebellar ataxia, autosomal recessive, type 11
TAC3Hypogonadotropic hypogonadism, type 10, with or without anosmia
TACO1Mitochondrial complex IV deficiency
TACR3Hypogonadotropic hypogonadism, type 11, with or without anosmia
TACSTD2Corneal dystrophy, gelatinous drop-like
TALDO1Transaldolase deficiency
TATTyrosinemia, type 2
TAZ3-methylglutaconic aciduria, type 2 (Barth syndrome)
TBC1D23Pontocerebellar hypoplasia, type 11
TBC1D24DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome; Epileptic encephalopathy, early infantile, type 16; Deafness, autosomal recessive, type 86
TBCEEncephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1
TBX19Congenital isolated adrenocorticotropic hormone deficiency
TBX22Cleft palate with ankyloglossia
TBXAS1Ghosal syndrome
TCAPLimb-girdle muscular dystrophy, type 7 (LGMD R7)
TCIRG1Osteopetrosis, autosomal recessive, type 1
TCN2Transcobalamin II deficiency
TCTN1Joubert syndrome, type 13
TCTN2Joubert syndrome, type 24
TDP1Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
TDRD7Cataract 36
TECRMental retardation, autosomal recessive, type 14
TECTADeafness, autosomal recessive, type 21
TERTDyskeratosis congenita, autosomal recessive, type 4
TFR2Hemochromatosis, type 3
TGThyroid dyshormonogenesis, type 3
TGM1Ichthyosis, congenital, autosomal recessive, type 1
TGM5Peeling skin syndrome, type 2
THSegawa syndrome, recessive
THRBThyroid hormone resistance, autosomal recessive
TIMM8AMohr-Tranebjaerg syndrome
TJP2Cholestasis, progressive familial intrahepatic, type 4
TK2Mitochondrial DNA depletion syndrome , type 2 (myopathic type)
TMC1Deafness, autosomal recessive, type 7
TMC6Epidermodysplasia verruciformis
TMC8Epidermodysplasia verruciformis
TMCO1Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
TMEM126AOptic atrophy 7
TMEM216Joubert syndrome, type 2; Meckel syndrome, type 2
TMEM237Joubert syndrome, type 14
TMEM67Joubert syndrome, type 6; Meckel syndrome, type 3; COACH syndrome
TMEM70Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
TMIEDeafness, autosomal recessive, type 6
TMPRSS15Enterokinase deficiency
TMPRSS3Deafness, autosomal recessive, type 8/10
TMPRSS6Iron-refractory iron deficiency anemia
TNFRSF11AOsteopetrosis, autosomal recessive, type 7
TNFRSF11BPaget disease of bone, type 5, juvenile-onset
TNFRSF13BImmunodeficiency, common variable, type 2
TNFSF11Osteopetrosis, autosomal recessive, type 2
TNNT1Nemaline myopathy , type 5, Amish type
TNXBEhlers-Danlos syndrome, classic-like
TPI1Hemolytic anemia due to triosephosphate isomerase deficiency
TPK1Episodic encephalopathy due to thiamine pyrophosphokinase deficiency
TPM3Nemaline myopathy, type 1; Congenital fiber-type disproportion myopathy
TPOThyroid dyshormonogenesis, type 2A
TPP1Ceroid lipofuscinosis, neuronal, type 2
TPRNDeafness, autosomal recessive, type 79
TRAF3IP1Senior-Loken syndrome, type 9
TRAPPC2Spondyloepiphyseal dysplasia tarda
TRAPPC9Mental retardation, autosomal recessive, type 13
TRDNVentricular tachycardia, catecholaminergic polymorphic, type 5, with or without muscle weakness
TREM2Nasu-Hakola disease
TREX1Aicardi-Goutieres syndrome, type 1
TRIM32Limb-girdle muscular dystrophy, type 8 (LGMD R8)
TRIM37Mulibrey nanism
TRIOBPDeafness, autosomal recessive, type 28
TRIP11Achondrogenesis, type 1A
TRMULiver failure, transient infantile
TRPM1Night blindness, congenital stationary (complete), type 1C, autosomal recessive
TRPM6Familial hypomagnesemia with secondary hypocalcemia
TSEN2Pontocerebellar hypoplasia, type 2B
TSEN54Pontocerebellar hypoplasia, type 2A; Pontocerebellar hypoplasia, type 4
TSFMCombined oxidative phosphorylation deficiency, type 3
TSHBHypothyroidism, congenital, nongoitrous, type 4
TSHRHypothyroidism, congenital, nongoitrous, type 1
TSPAN7Mental retardation, X-linked, type 58
TTC19Mitochondrial complex III deficiency, nuclear type 2
TTC21BShort-rib thoracic dysplasia, type 4, with or without polydactyly
TTC37Trichohepatoenteric syndrome, type 1 (diarrhea, syndromic)
TTC8Bardet-Biedl syndrome, type 8
TTI2Mental retardation, autosomal recessive, type 39
TTNLimb-girdle muscular dystrophy type 10 (LGMDR10); Early-onset myopathy with fatal cardiomyopathy
TTPAAtaxia with isolated vitamin E deficiency
TUBA8Cortical dysplasia, complex, with other brain malformations, type 8
TUBGCP4Microcephaly and chorioretinopathy, autosomal recessive, type 3
TUBGCP6Microcephaly and chorioretinopathy, autosomal recessive, type 1
TUFMCombined oxidative phosphorylation deficiency 4
TULP1Leber congenital amaurosis, type 15
TUSC3Mental retardation, autosomal recessive, type 7
TWIST2Focal facial dermal dysplasia, type 3 (Setleis type)
TWNKMitochondrial DNA depletion syndrome, type 7 (hepatocerebral type); Perrault syndrome type 5
TYK2Immunodeficiency, type 35
TYMPMitochondrial DNA depletion syndrome, type 1 (MNGIE type)
TYROculocutaneous albinism (OCA) type 1A; OCA type 1B
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, type 1 (Nasu-Hakola disease)
TYRP1Albinism, oculocutaneous, type 3
UBE2AMental retardation, X-linked syndromic, Nascimento-type
UBQLN2Amyotrophic lateral sclerosis, type 15, with or without frontotemporal dementia
UBR1Johanson-Blizzard syndrome
UCHL1Spastic paraplegia, type 79, autosomal recessive
UGT1A1Crigler-Najjar syndrome, type 1; Crigler-Najjar syndrome, type 2
UMPSOrotic aciduria
UNC13DHemophagocytic lymphohistiocytosis, familial, type 3
UNC80Hypotonia, infantile, with psychomotor retardation and characteristic facies, type 2
UNGImmunodeficiency with hyper IgM, type 5
UPB1Beta-ureidopropionase deficiency
UPF3BMental retardation, X-linked, syndromic, type 14
UQCRBMitochondrial complex III deficiency, nuclear, type 3
UQCRQMitochondrial complex III deficiency, nuclear, type 4
URODPorphyria cutanea tarda
UROSPorphyria, congenital erythropoietic
USB1Poikiloderma with neutropenia
USH1CUsher syndrome, type 1C; Deafness, autosomal recessive, type 18A
USH1GUsher syndrome, type 1G
USH2AUsher syndrome, type 2A
USP9XMental retardation, X-linked, type 99; Mental retardation, X-linked, type 99, syndromic, female-restricted
UVSSAUV-sensitive syndrome, type 3
VDRRickets, vitamin D-resistant, type 2A
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2
VKORC1Vitamin K-dependent clotting factors, combined deficiency of, type 2
VLDLRCerebellar hypoplasia and mental retardation with or without quadrupedal locomotion, type 1
VMA21Myopathy, X-linked, with excessive autophagy
VPS13BCohen syndrome
VPS33BArthrogryposis, renal dysfunction and cholestasis, type 1
VRK1Pontocerebellar hypoplasia, type 1A
VSX2Microphthalmia, isolated, with coloboma, type 3
VWFvon Willibrand disease, type 3
WASWiskott-Aldrich syndrome; Thrombocytopenia, X-linked
WASHC4?Mental retardation, autosomal recessive, type 43
WASHC5Ritscher-Schinzel syndrome, type 1
WDR19Nephronophthisis, type 13; Senior-Loken syndrome, type 8
WDR35Cranioectodermal dysplasia 2
WDR45Neurodegeneration with brain iron accumulation, type 5
WDR45BNeurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
WDR62Microcephaly, type 2, primary, autosomal recessive, with or without cortical malformations
WDR72Amelogenesis imperfecta, type 2A3
WDR81Cerebellar ataxia, mental retardation, and dysequilibrium syndrome, type 2
WFS1Wolfram syndrome, type 1
WHRNUsher syndrome, type 2D; Deafness, autosomal recessive, type 31
WISP3Arthropathy, progressive pseudorheumatoid, of childhood
WNK1Neuropathy, hereditary sensory and autonomic, type 2
WNT10AOdontoonychodermal dysplasia
WNT10BSplit-hand/foot malformation, type 6
WNT7AFuhrmann syndrome
WRAP53Dyskeratosis congenita, autosomal recessive, type 3
WRNWerner syndrome
WWOXEpileptic encephalopathy, early infantile, type 28; Spinocerebellar ataxia, autosomal recessive, type 12
XDHXanthinuria, type 1
XIAPLymphoproliferative syndrome, X-linked, 2
XKMcLeod syndrome with or without chronic granulomatous disease
XPAXeroderma pigmentosum, group A
XPCXeroderma pigmentosum, group C
XPNPEP3Nephronophthisis-like nephropathy, type 1
XRCC4Short stature, microcephaly, and endocrine dysfunction
XYLT1Desbuquois dysplasia, type 2
XYLT2Spondyloocular syndrome
YARS2Myopathy, lactic acidosis, and sideroblastic anemia, type 2
YY1AP1Grange syndrome
ZAP70Autoimmune disease, multisystem, infantile-onset, type 2; Immunodeficiency, type 48
ZBTB16Skeletal defects, genital hypoplasia, and mental retardation
ZBTB24Immunodeficiency-centromeric instability-facial anomalies syndrome, type 2
ZC3H14Mental retardation, autosomal recessive, type 56
ZDHHC9Mental retardation, X-linked syndromic, Raymond type
ZFYVE26Spastic paraplegia, type 15, autosomal recessive
ZIC3Heterotaxy, visceral, 1, X-linked; X-linked VACTERL syndrome with or without hydrocephalus
ZMPSTE24Mandibuloacral dysplasia with, type B lipodystrophy
ZNF469Brittle cornea syndrome, type 1
ZNF711Mental retardation, X-linked, type 97
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