Nazwa genuNazwa chorobyDziedziczenie
AAASAchalasia-addisonianism-alacrimia syndromeAR
AARSEpileptic encephalopathy, early infantile, Charcot-Marie-Tooth diseaseAD/AR
AARS1Trichothiodystrophy 8, nonphotosensitiveAR
AARS2Leukoencephalopathy, progressive, with ovarian failure, Combined oxidative phosphorylation deficiency 8AR
AASSHyperlysinemiaAR
ABATGABA-transaminase deficiencyAR
ABCA1HDL deficiency, familial, 1AD
ABCA2Intellectual disability and seizuresAR
ABCA7Alzheimer diseaseAD
ABCB6Microphthalmia, isolated, with coloboma 7AD
ABCB7Anemia, sideroblastic, and spinocerebellar ataxiaXL
ABCC6Pseudoxanthoma elasticum, forme frusteAD
ABCC8Diabetes mellitus, transient neonatal 2-
ABCD1AdrenoleukodystrophyXLR
ABCD3?Bile acid synthesis defect, congenital, 5AR
ABCD4Methylmalonic aciduria and homocystinuria, cblJ typeAR
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractAR
ABHD5Chanarin-Dorfman syndromeAR
ACACAAcetyl-CoA carboxylase deficiencyAR
ACAD8Isobutyryl-CoA dehydrogenase deficiencyAR
ACAD9Acyl-CoA dehydrogenase family, deficiencyAR
ACADLLong chain acyl-CoA dehydrogenase deficiencyAD/AR
ACADMAcyl-CoA dehydrogenase, medium chain, deficiencyAR
ACADSAcyl-CoA dehydrogenase, short-chain, deficiency ofAR
ACADSB2-methylbutyrylglycinuriaAR
ACADVLAcyl-CoA dehydrogenase, very long chain, deficiencyAR
ACAT1Alpha-methylacetoacetic aciduriaAR
ACEMicrovascular complications of diabetes 3-
ACHE[Blood group, Yt system]-
ACO2Optic atrophy, Infantile cerebellar-retinal degenerationAD/AR
ACOX1Peroxisomal acyl-CoA oxidase deficiencyAR
ACSF3Combined malonic and methylmalonic aciduria-
ACSL4Mental retardation, X-linked 63XLD
ACTA1MyopathyAD/AR
ACTA2Aortic aneurysm, familial thoracic 6AD
ACTBBaraitser-Winter syndrome 1AD
ACTG1Baraitser-Winter syndrome 2AD
ACTG2Visceral myopathyAD
ACTL6BEpilepitic encephalopathyAD/AR
ACTN4Glomerulosclerosis, focal segmental, 1AD
ACVRL1Telangiectasia, hereditary hemorrhagic, type 2AD
ACY1Aminoacylase 1 deficiencyAR
ADAM10602192Alzheimer disease 18, susceptibility to
ADAM22Early infantile epileptic encephalopathyAR
ADAM22?Developmental and epileptic encephalopathy 61AR
ADAMTS10Weill-Marchesani syndrome 1, recessiveAR
ADAMTSL2Geleophysic dysplasia 1AR
ADARDyschromatosis symmetrica hereditaria, Aicardi-Goutières syndromeAD/AR
ADAT3Mental retardation, autosomal recessive 36AR
ADCK3Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxiaAR
ADCY5Dyskinesia, familial, with facial myokymiaAD/AR
ADGRG1Polymicrogyria, bilateral frontoparietal, Polymicrogyris, bilateral perisylvianAR
ADGRG6Lethal congenital contracture syndrome 9AR
ADGRV1Usher syndrome, type 2CAR, DD
ADKHypermethioninemia due to adenosine kinase deficiencyAR
ADNPHelsmoortel-van der Aa syndrome (Mental retardation, autosomal dominant 28)AD
ADPRHL2Neurodegeneration, childhood-onset, with brain atrophyAR
ADPRSNeurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizuresAR
ADSLAdenylosuccinase deficiencyAR
AFF2Mental retardation, X-linked, FRAXE typeXLR
AFF3KINSSHIP syndromeAD
AFG3L2Spinocerebellar ataxia 28AD
AGAAspartylglucosaminuriaAR
AGKSengers syndromeAR
AGLGlycogen storage disease IIIbAR
AGPSRhizomelic chondrodysplasia punctata, type 3AR
AGRNMyasthenic syndrome, congenitalAR
AGTPBP1NeuropathyAR
AGXTHyperoxaluria, primary, type 1AR
AHCYHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolaseAR
AHDC1Xia-Gibbs syndromeAD
AHI1Joubert syndromeAR
AIFM1Deafness, Combined oxidative phosphorylation deficiency 6, Cowchock syndromeXL
AIMP2Leukodystrophy, hypomyelinating, 17AR
AK2Reticular dysgenesisAR
AKT1Proteus syndrome, Cowden syndromeAD
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2AD
ALADPorphyria, acute hepaticAR
ALAS2Protoporphyria, erythropoietic, X-linkedXL
ALDH18A1Cutis laxa, autosomal dominant 3AD
ALDH2Alcohol sensitivity, acuteAD
ALDH3A2Sjogren-Larsson syndromeAR
ALDH4A1Hyperprolinemia, type IIAR
ALDOAGlycogen storage diseaseAR
ALDOBFructose intolerance, hereditaryAR
ALG1Congenital disorder of glycosylation, type IkAR
ALG11Congenital disorder of glycosylation, type IpAR
ALG12Congenital disorder of glycosylation, type IgAR
ALG13Congenital disorder of glycosylationXL
ALG14Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse faciesAR
ALG2?Congenital disorder of glycosylation, type IiAR
ALG3Congenital disorder of glycosylation, type IdAR
ALG6Congenital disorder of glycosylationAR
ALG6Congenital disorder of glycosylation, type IcAR
ALG8Polycystic liver disease 3 with or without kidney cystsAD
ALG9Congenital disorder of glycosylation, type IlAR
ALKBH8Intellectual disability, autosomal recessiveAR
ALPLHypophosphatasia, infantileAR
ALS2Amyotrophic lateral sclerosis, Spastic paralysisAR
ALX1Frontonasal dysplasia 3AR
ALX3Frontonasal dysplasia 1AR
ALX4Craniosynostosis 5, susceptibility toAD
AMACRAlpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defectAR
AMMECR1Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosisXLR
AMPD1Myopathy due to myoadenylate deaminase deficiencyAR
AMPD2Pontocerebellar hypoplasia type 9, Spastic paraplegia 63AR
AMTGlycine encephalopathyAR
ANGAmyotrophic lateral sclerosisAD
ANK2Long QT syndrome 4AD
ANK3Mental retardation, autosomal recessive, 37AR
ANKLE2Microcephaly 16, primary, autosomal recessiveAR
ANKRD11KBG syndromeAD
ANO10Spinocerebellar ataxiaAR
ANO3Dystonia 24AD
ANO5Gnathodiaphyseal dysplasiaAD
ANTXR1Hemangioma, capillary infantile, susceptibility to, Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome)AD/AR
ANTXR2Hyaline fibromatosis syndromeAR
ANXA11Amytrophic lateral sclerosis 23AD
AP1S1MEDNIK syndromeAR
AP1S2Mental retardation, X-linked syndromic 5XLR
AP2M1Epilepitic encephalopathyAD
AP3B1Hermansky-Pudlak syndrome 2AR
AP3B2Epileptic encephalopathy, early infantile, 48
AP4B1Spastic paraplegia 47, autosomal recessiveAR
AP4B1Spastic paraplegia 47, autosomal recessiveAR
AP4E1Stuttering, familial persistent, 1, Spastic paraplegia 51, autosomal recessiveAD/AR
AP4M1Spastic paraplegia 50, autosomal recessiveAR
AP4M1Spastic paraplegia 50, autosomal recessiveAR
AP4S1Spastic paraplegia 52, autosomal recessiveAR
AP5Z1Spastic paraplegia 48, autosomal recessiveAR
APOESea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathyAD/AR
APOPT1Mitochondrial complex IV deficiencyAR
APPAlzheimer disease, Cerebral amyloid angiopathyAD/AR
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAR
ARFGEF2Heterotopia, periventricularAR
ARG1HyperargininemiaAR
ARHGAP31Adams-Oliver syndrome 1AD
ARHGEF10Slowed nerve conduction velocityAD
ARHGEF6Intellectual developmental disorderXL
ARHGEF9Epileptic encephalopathy, early infantileXL
ARID1ACoffin-Siris syndrome 2AD
ARID1BCoffin-Siris syndrome, Intellectual developmental disorderAD
ARID2Coffin-Siris syndrome 6AD
ARL13BJoubert syndromeAR
ARL6Bardet-Biedl syndrome, Retinitis pigmentosaAR
ARL6IP1?Spastic paraplegia 61, autosomal recessiveAR
ARSAMetachromatic leukodystrophyAR
ARSBMucopolysaccharidosis type VI (Maroteaux-Lamy)AR
ARSLChondrodysplasia punctata, X-linked recessiveXLR
ARV1Developmental and epileptic encephalopathy 38AR
ARXDevelopmental and epileptic encephalopathy 1XLR
ASAH1Spinal muscular atrophy with progressive myoclonic epilepsy, Farber lipogranulomatosisAR
ASAH1Spinal muscular atrophy with progressive myoclonic epilepsyAR
ASCC1Spinal muscular atrophy with congenital bone fractures 2AR
ASCL1Central hypoventilation syndrome, congenitalAD
ASH1LMental retardation, autosomal dominant 52AD
ASLArgininosuccinic aciduriaAR
ASNSAsparagine synthetase deficiencyAR
ASPAAspartoacylase deficiency (Canavan disease)AR
ASPMMicrocephaly 5, primary, autosomal recessiveAR
ASS1CitrullinemiaAR
ASXL1Bohring-Opitz syndromeAD
ASXL2Shashi-Pena syndromeAD
ASXL3Bainbridge-Ropers syndromeAD
ATAD1Hyperekplexia 4AR
ATAD3AHarel-Yoon syndromeAD/AR
ATCAYAtaxia, cerebellar, CaymanAR
ATCAYAtaxia, cerebellar, Cayman typeAR
ATICAICA-ribosiduria due to ATIC deficiencyAR
ATL1Spastic paraplegia, Neuropathy, hereditary sensoryAD
ATL3Neuropathy, hereditary sensoryAD
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR
ATN1Dentatorubral-pallidoluysian atrophyAD
ATP13A2Parkinson disease (Kufor-Rakeb syndrome)AR
ATP1A1Charcot-Marie-Tooth diseaseAD
ATP1A2Migraine, familial hemiplegic, Alternating hemiplegia of childhood, Migraine, familial hemiplegic, 2, Migraine, familial basilarAD/AR
ATP1A3Alternating hemiplegia of childhood, Dystonia 12AD
ATP2A1Brody myopathyAR
ATP2A2Acrokeratosis verruciformisAD
ATP2B3Spinocerebellar ataxia, X-linked 1XL
ATP5F1A?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4AR
ATP5F1E?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3AR
ATP6AP1Immunodeficiency 47XLR
ATP6AP2Mental retardation, X-linked, syndromic, Hedera typeXLR
ATP6V0A2Cutis laxa, autosomal recessive, type IIAAR
ATP6V1ACutis laxa, autosomal recessive, type IID, Epileptic encephalopathyAD/AR
ATP7AMenkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3XL
ATP7BWilson diseaseAR
ATP7BWilson diseaseAR
ATP8A2Dysequilibrium syndromeAR
ATP8A2?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4AR
ATR?Cutaneous telangiectasia and cancer syndrome, familialAD
ATRXCarpenter-Waziri syndrome, Alpha-thalassemia/mental retardation syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, Mental retardation-hypotonic facies syndromeXL
AUH3-methylglutaconic aciduriaAR
AUTS2Mental retardation, autosomal dominant 26AD
B3GALNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11AR
B3GLCTPeters-plus syndromeAR
B4GALNT1Spastic paraplegia 26, autosomal recessiveAR
B4GALNT1Spastic paraplegiaAR
B4GALT1Congenital disorder of glycosylation, type IIdAR
B4GAT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13AR
B9D1?Meckel syndrome 9AR
B9D2?Meckel syndrome 10AR
BAG3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD
BBS1Bardet-Biedl syndromeAR
BBS10Bardet-Biedl syndromeAR
BBS12Bardet-Biedl syndromeAR
BBS2Bardet-Biedl syndrome, Retinitis pigmentosaAR
BBS4Bardet-Biedl syndromeAR
BBS5Bardet-Biedl syndromeAR
BBS7Bardet-Biedl syndromeAR
BBS9Bardet-Biedl syndromeAR
BCAP31Deafness, dystonia, and cerebral hypomyelinationXLR
BCKDHAMaple syrup urine disease, type IaAR
BCKDHBMaple syrup urine disease, type IbAR
BCKDKBranched-chain ketoacid dehydrogenase kinase deficiencyAR
BCL11ADias-Logan syndromeAD
BCORMicrophthalmia, syndromic 2XLD
BCS1LGRACILE syndromeAR
BEST1Macular dystrophy, vitelliform, 2AD
BICD2Childhood-onset proximal spinal muscular atrophy with contracturesAD
BIN1Myopathy, centronuclearAD/AR
BLOC1S3Hermansky-Pudlak syndrome 8AR
BLOC1S6?Hermansky-pudlak syndrome 9AR
BOLA3Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaAR
BRAFCardiofaciocutaneous syndromeAD
BRAT1Rigidity and multifocal seizure syndrome, lethal neonatalAR
BRWD3Mental retardation, X-linked 93XLR
BSCL2Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17AD/AR
BSNDBartter syndrome, type 4aAR
BTDBiotinidase deficiencyAR
BVESMuscular dystrophy, limb-girdle, autosomal recessive 25AR
C10ORF2Perrault syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3AD/AR
C12ORF4Developmental delay and seizures with or without movement abnormalities (DEDSM)AR
C12ORF57Corpus callosum hypoplasia, recessive, Temtamy syndromeAR
C12ORF65Spastic paraplegia, Combined oxidative phosphorylation deficiencyAR
C19orf12Neurodegeneration with brain iron accumulation 4AD, AR
C19ORF12Spastic Paraplegia, Neurodegeneration with brain iron accumulationAR
C1QBPCombined oxidative phosphorylation deficiency 33AR
C5ORF42Orofaciodigital syndrome VI, Joubert syndrome 17AR
CA2Osteopetrosis, autosomal recessive 3, with renal tubular acidosisAR
CA5AHyperammonemia due to carbonic anhydrase VA deficiencyAR
CA8Cerebellar ataxia, mental retardation, and dysequilibrium syndromeAR
CACNA1AMigraine, familial hemiplegic, Episodic ataxia, Spinocerebellar ataxia 6, Epileptic encephalopathy, early infantile, 42AD
CACNA1BDystonia 23, Early infantile epileptic encephalopathyAD/AR
CACNA1CLong QT syndrome 8AD
CACNA1DPrimary aldosteronism, seizures, and neurologic abnormalities, Sinoatrial node dysfunction and deafnessAD/AR
CACNA1EEpileptic encephalopathyAD
CACNA1FAland Island eye diseaseXL
CACNA1GSpinocerebellar ataxia 42
CACNA1HChildhood absence epilepsyAD
CACNA1SThyrotoxic periodic paralysis, susceptibility to, 1AD
CACNA1SHypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysisAD/AR
CACNA2D2Early infantile epileptic encephalopathy, High voltage gated calcium channelopathy-related, autosomal recessiveAR
CACNB2Brugada syndrome 4-
CACNB4Episodic ataxia, Epilepsy, idiopathic generalized, susceptibility to, 9AD
CADEpileptic encephalopathy, early infantile, 50 (Congenital disorder of glycosylation, type Iz)AR
CAMK2A?Mental retardation, autosomal recessive 63AR
CAMK2BNeurodevelopmental disorder
CAMK2GMental retardation, autosomal dominant 59AD
CAMTA1Cerebellar ataxia, nonprogressive, with mental retardationAD
CAPN1Spastic paraplegia 76, autosomal recessiveAR
CAPN3Muscular dystrophy, limb-girdle, Eosinophilic myositisAD/AR
CARD11Immunodeficiency 11AAR
CARS2Combined oxidative phosphorylation deficiency 27AR
CASKIntellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, FG syndrome, Intellectual developmental disorderXL
CASKMental retardation, with or without nystagmus-
CASQ1Myopathy, vacuolar, with CASQ1 aggregatesAD
CASRHypocalcemia, Neonatal hyperparathyroidism, Familial Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidismAD/AR
CATAcatalasemia-
CAV1Pulmonary hypertension, primary, 3AD
CAV3Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome, Muscular dystrophy, limb-girdle, type IC, Myopathy, distal, Tateyama type, Rippling muscle disease 2AD/AR
CAVIN1Lipodystrophy, congenital generalized, type 4AR
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaAD
CBSThrombosis, hyperhomocysteinemicAR
CC2D1AMental retardation, autosomal recessive 3AR
CC2D2AMeckel syndrome 6AR
CCDC115Congenital disorder of glycosylation, type IIoAR
CCDC22Ritscher-Schinzel syndrome 2XLR
CCDC40Ciliary dyskinesia, primary, 15AR
CCDC47Microcephaly, MalformationsAR
CCDC78?Centronuclear myopathy 4AD
CCDC88A?PEHO syndrome-likeAR
CCDC88CSpinocerebellar ataxiaAD
CCM2Cerebral cavernous malformationsAD
CCND2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndromeAD
CCNFFrontotemporal dementia and/or amyotrophic lateral sclerosis 5AD
CCT5Neuropathy, hereditary sensory, with spastic paraplegiaAR
CD320Methylmalonic aciduria, transient, due to transcobalamin receptor defectAR
CD59Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathyAR
CD96C syndromeAD
CDH11Teebi hypertelorism syndrome 2AD
CDH15Mental retardation, autosomal dominant 3-
CDK5RAP2MicrocephalyAR
CDK9AR
CDKL5Epileptic encephalopathy, early infantile, Rett syndrome, atypical, Angelman-like syndromeXL
CDKN1CBeckwith-Wiedemann syndrome, IMAGE syndromeAD
CDONHoloprosencephalyAD
CELMaturity-onset diabetes of the young, type VIIIAD
CENPFStromme syndromeAR
CENPFCiliary dyskinesia -Lethal CiliopathyAR
CENPJSeckel syndrome, MicrocephalyAR
CEP135Microcephaly 8, primary, autosomal recessiveAR
CEP152Seckel syndrome, MicrocephalyAR
CEP164Nephronophthisis 15AR
CEP290Leber congenital amaurosis 10-
CEP41Joubert syndromeAR/Digenic
CEP63Seckel syndromeAR
CERS1?Epilepsy, progressive myoclonic, 8AR
CERT1Mental retardation, autosomal dominant 34AD
CFAP418Retinitis pigmentosa 64AR
CFL2Nemaline myopathyAR
CHAMP1Mental retardation, autosomal dominant 40AD
CHATMyasthenic syndrome, congenitalAR
CHCHD10Myopathy, isolated mitochondrial, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela typeAD
CHCHD2Parkinson disease 22, autosomal dominantAD
CHD1Pilarowski-Bjornsson syndromeAD
CHD2Epileptic encephalopathy, childhood-onsetAD
CHD3Snijders Blok-Campeau syndromeAD
CHD7CHARGE syndromeAD
CHD8Autism, susceptibility to, 18AD
CHD8AutismAD
CHKBMuscular dystrophy, congenital, megaconialAR
CHMP2BAmyotrophic lateral sclerosis, CHMP2B-related, Frontotemporal dementiaAD
CHN1Duane retraction syndrome 2AD
CHRNA1Myasthenic syndrome, congenitalAD/AR
CHRNA2Epilepsy, nocturnal frontal lobeAD
CHRNA4Epilepsy, nocturnal frontal lobeAD
CHRNB1Myasthenic syndromeAD/AR
CHRNB2Epilepsy, nocturnal frontal lobeAD
CHRNDMyasthenic syndromeAD/AR
CHRNEMyasthenic syndromeAD/AR
CHRNGMultiple pterygium syndrome, Escobar syndromeAR
CHST14Ehlers-Danlos syndrome, musculocontractural type 1AR
CHSY1Temtamy preaxial brachydactyly syndromeAR
CIB2Usher syndrome, type IJAR
CICMental retardation, autosomal dominant 45AD
CILK1Endocrine-cerebroosteodysplasiaAR
CISD2Wolfram syndrome 2AR
CITMicrocephaly 17, primary, autosomal recessiveAR
CLCN1Myotonia congenita, Myotonia congenita, Myotonia leviorAD/AR
CLCN2Leukoencephalopathy with ataxia, EpilepsyAD/AR
CLCN4Mental retardation, X-linked 49XL
CLCNKABartter syndrome, type 4b, digenicDR
CLCNKBBartter syndrome, type 3AR
CLDN16Hypomagnesemia 3, renalAR
CLDN19Hypomagnesemia 5, renal, with ocular involvementAR
CLN3Neuronal ceroid lipofuscinosis, type 3AR
CLN5Neuronal ceroid lipofuscinosis, type 5AR
CLN6Neuronal ceroid lipofuscinosis, type 6AR
CLN8Neuronal ceroid lipofuscinosis, type 8AR
CLP1Pontocerebellar hypoplasia, type 10AR
CLPB3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)AD/AR
CLPPDeafnessAR
CLTCAD
CNBPMyotonic dystrophy 2AD
CNGB3Achromatopsia 3AR
CNKSR2Epileptic encephalopathy, X-linked mental retardation, Epilepsy and X-linked mental retardationXL
CNNM2Hypomagnesemia 6, renalAD
CNOT3Intellectual developmental disorderAD
CNPY3Epileptic encephalopathyAR
CNTN1Myopathy, congenital, Compton-NorthAR
CNTN6Developmental delay and seizures with or without movement abnormalities (DEDSM)AD
CNTNAP1Lethal congenital contracture syndrome 7AR
CNTNAP2Pitt-Hopkins like syndrome, Cortical dysplasia-focal epilepsy syndromeAR
COA5?Mitochondrial complex IV, deficiency, nuclear type 9AR
COA6Mitochondrial complex IV deficiency, nuclear type 13AR
COA7Spinocerebellar ataxia, Charcot-Marie-Tooth diseaseAR
COA8Mitochondrial complex IV deficiency, nuclear type 17AR
COASYNeurodegeneration with brain iron accumulation 6AR
COG1Congenital disorder of glycosylation, type IIgAR
COG4Congenital disorder of glycosylation, type IIjAR
COG5Congenital disorder of glycosylation, type IIiAR
COG6Shaheen syndromeAR
COG7Congenital disorder of glycosylation, type IIeAR
COG8Congenital disorder of glycosylation, type IIh-
COL11A2Deafness, autosomal recessive 53AR
COL12A1Bethlem myopathy, Ullrich congenital muscular dystrophyAD/AR
COL13A1Myasthenic syndrome, congenital, 19AR
COL2A1Legg-Calve-Perthes diseaseAD
COL4A1Schizencephaly, Anterior segment dysgenesis with cerebral involvement, Retinal artery tortuosity, Porencephaly, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Brain small vessel diseaseAD
COL4A2Hemorrhage, intracerebralAD
COL4A3BPMental retardation, autosomal dominant 34AD
COL6A1Bethlem myopathy, Ullrich congenital muscular dystrophyAD/AR
COL6A2Epilepsy, progressive myoclonic, Bethlem myopathy, Myosclerosis, congenital, Ullrich congenital muscular dystrophyAD/AR
COL6A3Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophyAD/AR
COLGALT1Brain small vessel disease 3AR
COLQMyasthenic syndrome, congenitalAR
COMTPanic disorder, susceptibility to?AD
COQ2Coenzyme Q10 deficiencyAR
COQ4Coenzyme Q10 deficiency 7AR
COQ5Coenzyme Q10 deficiencyAR
COQ6Coenzyme Q10 deficiencyAR
COQ7Coenzyme Q10 deficiency, primary 8AR
COQ8ACoenzyme Q10 deficiency, primary, 4AR
COQ8BNephrotic syndrome, type 9AR
COQ9Coenzyme Q10 deficiencyAR
COX10Mitochondrial complex IV deficiency, nuclear type 3AR
COX14?Mitochondrial complex IV deficiency, nuclear type 10AR
COX15Leigh syndrome, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiencyAR
COX20Mitochondrial complex IV deficiencyAR
COX4I2Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosisAR
COX6A1Charcot-Marie-Tooth diseaseAR
COX6B1Mitochondrial complex IV deficiencyAR
COX6B1Mitochondrial complex IV deficiency, nuclear type 7AR
COX7BLinear skin defects with multiple congenital anomalies 2XLD
CPCerebellar ataxiaAR
CPA6Febrile seizures, familial, 11AR
CPLANE1Orofaciodigital syndrome VIAR
CPLX1
CPOXHarderoporphyriaAR
CPS1Carbamoylphosphate synthetase I deficiencyAR
CPT1ACPT deficiency, hepatic, type IAAR
CPT1C?Spastic paraplegia 73, autosomal dominantAD
CPT2Carnitine palmitoyltransferase II deficiencyAR
CRADDMental retardation, autosomal recessive 34, with variant lissencephalyAR
CRBNMental retardation, autosomal recessive 2AR
CREBBPMenke-Hennekam syndrome 1AD
CRIPTShort stature with microcephaly and distinctive faciesAR
CRLF1Cold-induced sweating syndrome 1AR
CRPPAMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7AR
CRYABCataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-relatedAD
CSF1RLeukoencephalopathy, diffuse hereditary, with spheroidsAD
CSNK2A1AD
CSNK2BIntellectual disability and seizuresAD
CSPP1Joubert syndrome 21AR
CSRP3?Cardiomyopathy, dilated, 1M-
CST3Macular degeneration, age-related, 11-
CSTBEpilepsy, progressive myoclonicAR
CTBP1
CTC1Cerebroretinal microangiopathy with calcifications and cystsAR
CTCFMental retardation, autosomal dominant 21AD
CTDP1Congenital cataracts, facial dysmorphism, and neuropathyAR
CTNNA2Cortical dysplasia, complex, with other brain malformations 9AR
CTNNA3Arrhythmogenic right ventricular dysplasia, familial, 13AD
CTNNB1Ovarian cancer, somatic-
CTNND2Developmental delay and seizures with or without movement abnormalities (DEDSM)AD
CTNSCystinosis, late-onset juvenile or adolescent nephropathicAR
CTSAGalactosialidosisAR
CTSCPeriodontitis 1, juvenileAR
CTSDCeroid lipofuscinosis, neuronalAR
CTSFNeuronal ceroid lipofuscinosisAR
CTSKPycnodysostosisAR
CUL3Pseudohypoaldosteronism, type IIEAD
CUL4BMental retardation, syndromic, CabezasXL
CUL73-M syndrome 1AR
CUX1Global developmental delay with or without impaired intellectual developmentAD
CUX2
CWF19L1Spinocerebellar ataxiaAR
CX3CR1Macular degeneration, age-related, 12-
CYB5AMethemoglobinemia and ambiguous genitaliaAR
CYB5R3Methemoglobinemia, type IAR
CYC1Mitochondrial complex III deficiency, nuclear type 6AR
CYCSThrombocytopenia 4AD
CYFIP2Early infantile epileptic encephalopathy, EpilepsyAD
CYFIP2Developmental and epileptic encephalopathy 65AD
CYLDTrichoepithelioma, multiple familial, 1AD
CYP11A1Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete-
CYP11B1Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiencyAR
CYP11B2Hypoaldosteronism, congenital, due to CMO II deficiencyAR
CYP24A1Hypercalcemia, infantile, 1AR
CYP27A1Cerebrotendinous xanthomatosisAR
CYP27B1Vitamin D-dependent rickets, type IAR
CYP2U1Spastic paraplegia 56, autosomal recessiveAR
CYP7B1Bile acid synthesis defect, Spastic paraplegia 5A, autosomal recessiveAR
D2HGDHD-2-hydroxyglutaric aciduria 1AR
DAB1Spinocerebellar ataxia 37AD
DAG1Muscular dystrophy-dystroglycanopathyAR
DARSHypomyelination with brainstem and spinal cord involvement and leg spasticityAR
DARS1Hypomyelination with brainstem and spinal cord involvement and leg spasticityAR
DARS2Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationAR
DBTMaple syrup urine disease, type IIAR
DCAF17Woodhouse-Sakati syndromeAR
DCAF8Giant axonal neuropathy 2, autosomal dominantAD
DCTN1Perry syndrome, Neuropathy, distal hereditary motorAD
DCXLissencephaly, Subcortical laminal heterotopiaXL
DDCAromatic l-amino acid decarboxylase deficiencyAR
DDHD1Spastic paraplegia 28, autosomal recessiveAR
DDHD2Spastic paraplegia 54, autosomal recessiveAR
DDOST?Congenital disorder of glycosylation, type IrAR
DDX3XMental retardation, X-linked 102XL
DEAF1Mental retardation, autosomal dominant 24, Dyskinesia, seizures, and intellectual development disorderAD
DEGS1Leukodystrophy, hypomyelinating, 18AR
DENND5AEpileptic encephalopathy, early infantile, 49AR
DEPDC5Epilepsy, familial focal, with variable fociAD
DESDilated cardiomyopathy (DCM), Myopathy, myofibrillar, Scapuloperoneal syndrome, neurogenic, Kaeser typeAD/AR
DGUOKMitochondrial DNA depletion syndrome, Portal hypertension, noncirrhotic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4AR
DHCR24DesmosterolosisAR
DHCR7Smith-Lemli-Opitz syndromeAR
DHDDSRetinitis pigmentosa, Developmental delay and seizures with or without movement abnormalities (DEDSM)AD/AR
DHFRMegaloblastic anemia due to dihydrofolate reductase deficiencyAR
DHH46XY gonadal dysgenesis with minifascicular neuropathyAR
DHODHMiller syndromeAR
DHPSNeurodevelopmental disorder with seizures and speech and walking impairmentAR
DHTKD12-aminoadipic and 2-oxoadipic aciduria, Charcot-Marie-Tooth diseaseAD/AR
DHX30Neurodevelopmental disorder with severe motor impairment and absent languageAD
DIABLODeafness, autosomal dominant 64AD
DIAPH1Seizures, cortical blindness, and microcephaly syndrome (SCBMS), Deafness, autosomal dominant 1AD/AR
DIAPH3Auditory neuropathy, autosomal dominant, 1AD
DIP2BMental retardation, FRA12A typeAD
DKC1Dyskeratosis congenita, X-linkedXLR
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL
DLATPyruvate dehydrogenase E2 deficiencyAR
DLDDihydrolipoamide dehydrogenase deficiencyAR
DLG3Mental retardation, X-linked 90XLR
DLG4Intellectual developmental disorder 62AD
DLL3Spondylocostal dysostosis 1, autosomal recessiveAR
DLX3Amelogenesis imperfecta, type IVAD
DMDBecker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy (DCM)XL
DMGDHDimethylglycine dehydrogenase deficiencyAR
DMPKMyotonic dystrophy 1AD
DMXL2Deafness, autosomal dominant, 71, Polyendocrine-polyneuropathy syndrome, Epileptic encephalopathy, early infantileAD/AR
DNA2?Seckel syndrome 8AR
DNAJB2Spinal muscular atrophy, distal, Charcot-Marie-Tooth diseaseAR
DNAJB6Muscular dystrophy, limb-girdleAD
DNAJC12Hyperphenylalaninemia, mild, non-BH4-deficient, Dystonia, Other hyperphenylalaninemiasAR
DNAJC193-methylglutaconic aciduriaAR
DNAJC5Kufs disease,, Ceroid lipofuscinosis, neuronal 4, ParryAD
DNAJC6Parkinson disease 19b, early-onsetAR
DNM1Developmental and epileptic encephalopathy 31AD
DNM1LEncephalopathy due to defective mitochondrial and peroxisomal fission 1AD/AR
DNM2Myopathy, Lethal akinesia and musculoskeletal abnormalities, with brain and retinal hemorrhages, Charcot-Marie-Tooth diseaseAD/AR
DNMT1Neuropathy, hereditary sensory, Cerebellar ataxia, deafness, and narcolepsyAD
DNMT3ATatton-Brown-Rahman syndromeAD
DOCK3Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxiaAR
DOCK6Adams-Oliver syndrome 2AR
DOCK7Epilepitic encephalopathyAR
DOCK8Hyper-IgE recurrent infection syndrome, autosomal recessiveAR
DOK7Myasthenic syndrome, congenitalAR
DOLKCongenital disorder of glycosylationAR
DONSONMicrocephaly, short stature, and limb abnormalities (MISSLA), Microcephaly-Micromelia syndromeAR
DPAGT1Congenital disorder of glycosylation, Myasthenic syndrome, congenitalAR
DPF2Coffin-Siris syndrome 7AD
DPM1Congenital disorder of glycosylationAR
DPM2Congenital disorder of glycosylationAR
DPM3Congenital disorder of glycosylation, Dilated cardiomyopathy (DCM), Limb-girdle muscular dystrophyAR
DPP6Ventricular fibrillation, paroxysmal familial, 2AD
DPYD5-fluorouracil toxicityAD/AR
DPYSDihydropyriminidase deficiencyAR
DRD3Schizophrenia, susceptibility toAD
DSTNeuropathy, hereditary sensory and autonomicAR
DSTYKSpastic paraplegia 23AR
DTNBP1Hermansky-Pudlak syndrome 7AR
DVL3Robinow syndrome, autosomal dominant 3AD
DYMDyggve-Melchior-Clausen diseaseAR
DYNC1H1Spinal muscular atrophy, Charcot-Marie-Tooth disease, Intellectual developmental disorderAD
DYNC2H1Short-rib thoracic dysplasia 3 with or without polydactylyAR, DR
DYRK1AIntellectual developmental disorderAD
DYSFMiyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onsetAR
EARS2Combined oxidative phosphorylation deficiencyAR
EBF3Hypotonia, ataxia, and delayed development syndrome (HADDS)AD
EBPMEND syndromeXLR
ECEL1Arthrogryposis, distal, type 5DAR
ECHS1Mitochondrial short-chain enoyl-CoA hydratase 1 deficiencyAR
ECM1Lipoid proteinosisAR
EDC3?Mental retardation, autosomal recessive 50AR
EDN3Waardenburg syndrome, type 4BAD, AR
EDNRBWaardenburg syndrome, type 4AAD, AR
EEDCohen-Gibson syndromeAD
EEF1A2Epileptic encephalopathy, early infantile, Intellectual developmental disorderAD
EEF2Spinocerebellar ataxiaAD
EFHC1Epilepsy, myoclonic juvenile, Epilepsy, severe intractable, Epilepsy, juvenile absenceAD/AR
EFTUD2Mandibulofacial dysostosis, Guion-Almeida typeAD
EGFHypomagnesemia 4, renalAR
EGR2Neuropathy, Dejerine-Sottas disease, Charcot-Marie-Tooth diseaseAD/AR
EHMT1Kleefstra syndromeAD
EIF2B1Leukoencephalopathy with vanishing white matter, OvarioleukodystrophyAD/AR
EIF2B2Leukoencephalopathy with vanishing white matter, OvarioleukodystrophyAR
EIF2B3Leukoencephalopathy with vanishing white matter, OvarioleukodystrophyAR
EIF2B4Leukoencephalopathy with vanishing white matter, OvarioleukodystrophyAR
EIF2B5Leukoencephalopathy with vanishing white matter, OvarioleukodystrophyAR
EIF2S3MEHMO syndromeXLR
EIF3FIntellectual disability, autosomal recessiveAR
EIF4G1Parkinson disease 18AD
ELAC2Prostate cancer, hereditary, 2, susceptibility to-
ELK1Intellectual developmental disorderXL
ELOVL4Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxiaAD/AR
ELOVL5Spinocerebellar ataxiaAD
ELP1Dysautonomia, familialAR
ELP2Mental retardation, autosomal recessive 58AR
EMC10Neurodevelopmental disorder with dysmorphic facies and variable seizuresAR
EMDEmery-Dreifuss muscular dystrophyXL
EML1Band heterotopiaAR
EMX2Schizencephaly-
EMX2SchizencephalyAD
EN2AutismAD
ENO3?Glycogen storage disease XIIIAR
ENTPD1Spastic paraplegia 64, autosomal recessiveAR
EP300Rubinstein-Taybi syndrome 2AD
EPB41L1?Mental retardation, autosomal dominant 11AD
EPG5Vici syndromeAR
EPHX2Hypercholesterolemia, familial, due to LDLR defect, modifier ofAD, AR
EPM2AEpilepsy, progressive myoclonicAR
EPRSLeukodystrophy, hypomyelinatingAR
EPRS1Leukodystrophy, hypomyelinating, 15AR
ERBB4Amyotrophic lateral sclerosis 19AD
ERCC1Cerebrooculofacioskeletal syndrome 4AR
ERCC2?Cerebrooculofacioskeletal syndrome 2AR
ERCC5Xeroderma pigmentosum, group GAR
ERCC6Lung cancer, susceptibility toAD, SM
ERCC8Cockayne syndrome, type AAR
ERLIN1Spastic paraplegia 62AR
ERLIN2Spastic paraplegia 18, autosomal recessiveAR
ESCO2Roberts syndromeAR
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR
ETHE1Ethylmalonic encephalopathyAR
EWSR1Ewing sarcoma-
EXOC6BSpondyloepimetaphyseal dysplasia with joint laxity, type 3AR
EXOSC3Pontocerebellar hypoplasia, type 1BAR
EXOSC8Pontocerebellar hypoplasia, type 1CAR
EXOSC9Pontocerebellar hypoplasia, type 1DAR
EXT1ChondrosarcomaSM
EZH2Weaver syndromeAD
F2DysprothrombinemiaAR
F5Pregnancy loss, recurrent, susceptibility to, 1AD
FA2HSpastic paraplegiaAR
FADDInfections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformationsAR
FAHTyrosinemia, type IAR
FAM126ALeukodystrophy, hypomyelinatingAR
FAM134BNeuropathy, hereditary sensory and autonomicAR
FAN1Interstitial nephritis, karyomegalicAR
FANCBFanconi anemia, complementation group BXLR
FANCBFanconi anemiaXL
FAR1Peroxisomal fatty acyl-CoA reductase 1 disorderAR
FARS2Combined oxidative phosphorylation deficiency 14, Spastic paraplegia 77, autosomal recessiveAR
FARSBRajab interstitial lung disease with brain calcifications 1AR
FASTKD2Combined oxidative phosphorylation deficiency 44AR
FAT2Spinocerebellar ataxia 45AD
FAT4Van Maldergem syndrome 2AR
FBLN5Cutis laxa, Macular degeneration, age-relatedAD/AR
FBN1Marfan lipodystrophy syndromeAD
FBN2Contractural arachnodactyly, congenitalAD
FBXL4Mitochondrial DNA depletion syndromeAR
FBXO11Intellectual developmental disorderAD
FBXO38Neuronopathy, distal hereditary motorAD
FBXO7Parkinson disease 15, autosomal recessiveAR
FDFT1Growth retardation, developmental delay, and facial dysmorphismAR
FDX1LMyopathyAR
FDX2Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathyAR
FDXRAuditory neuropathy and optic atrophyAR
FECHProtoporphyria, erythropoietic, 1AR
FEZF1Hypogonadotropic hypogonadism 22, with or without anosmiaAR
FGAHypodysfibrinogenemia, congenital-
FGD1Aarskog-Scott syndromeXLR
FGD4Charcot-Marie-Tooth diseaseAR
FGF10Aplasia of lacrimal and salivary glandsAD
FGF12Epileptic encephalopathy, early infantile, 47AD
FGF14Spinocerebellar ataxiaAD
FGF8Hypogonadotropic hypogonadismAD/Digenic
FGFR1Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism - Craniostenosis, Hartsfield syndromeAD/Digenic/Multigenic
FGFR2Crouzon syndromeAD
FGFR3AchondroplasiaAD
FHFumarase deficiencyAR
FHL1Reducing body myopathy, X-linked 1b, with late childhood or adult onsetXL
FIG4Amyotrophic lateral sclerosis, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome, Charcot-Marie-Tooth diseaseAD/AR
FITM2Dystonia, DeafnessAR
FKBP10Osteogenesis imperfecta, type XIAR
FKBP14Ehlers-Danlos syndrome, kyphoscoliotic type, 2AR
FKRPMuscular dystrophy-dystroglycanopathyAR
FKTNMuscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle)AR
FLAD1Lipid storage myopathy due to FLAD1 deficiency (LSMFLAD)AR
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects, Periventricular nodular heterotopia 1, Melnick-Needles syndrome, Intestinal pseudoobstruction, neuronal, X-linked/Congenital short bowel syndrome, Cardiac valvular dysplasia, X-linkedXL
FLNCCardiomyopathy, familial restrictive 5AD
FLVCR1Ataxia, posterior column, with retinitis pigmentosaAR
FLVCR2Proliferative vasculopathy and hydranencephaly-hydrocephaly syndromeAR
FMN2Mental retardation, autosomal recessive 47AR
FMR1Premature ovarian failure, Fragile X syndrome, Fragile X tremor/ataxia syndromeXL
FOLR1Cerebral folate deficiencyAR
FOXC1Anterior segment dysgenesis 3, multiple subtypesAD
FOXG1Rett syndrome, congenital variantAD
FOXH1Congenital heart malformations, HoloprosencephalyAD
FOXL2Blepharophimosis, epicanthus inversus, and ptosis, type 1AD, AR
FOXP1Mental retardation with language impairment and autistic features, Congenital heart malformationsAD
FOXP2Speech-language disorder-1AD
FOXRED1Leigh syndrome, Mitochondrial complex I deficiencyAR
FRMD7Nystagmus, infantile periodic alternating, X-linkedXL
FRMPD4Mental retardation, X-linked 104XL
FRRS1LEpileptic encephalopathy, early infantile, 37AR
FTLNeurodegeneration with brain iron accumulation 3AD
FTOGrowth retardation, developmental delay, facial dysmorphismAR
FTSJ1Mental retardation, X-linked 9/44XLR
FUCA1FucosidosisAR
FUSAmyotrophic lateral sclerosis, Essential tremorAD/AR
FUT8Congenital disorder of glycosylationAR
FXNFriedreich ataxiaAR
FXR1?Myopathy, congenital, with respiratory insufficiency and bone fracturesAR
FXYD2Hypomagnesemia 2, renalAD
G6PDResistance to malaria due to G6PD deficiency-
GAAGlycogen storage diseaseAR
GABBR2Epileptic encephalopathyAD
GABRA1Epileptic encephalopathy, early infantile, Epilepsy, childhood absence, Epilepsy, juvenile myoclonicAD
GABRA1Developmental and epileptic encephalopathy 19AD
GABRA2Alcohol dependence, susceptibility toMF
GABRA5Developmental and epileptic encephalopathy 79AD
GABRB1Epileptic encephalopathy, early infantile, 45AD
GABRB2Epileptic encephalopathyAD
GABRB3Epilepsy, childhood absenceAD
GABRDEpilepsy, generalized, with febrile seizures plus, type 5, susceptibility toAD
GABRG2Developmental and epileptic encephalopathy 74AD
GAD1?Cerebral palsy, spastic quadriplegic, 1AR
GALCKrabbe diseaseAR
GALNSMucopolysaccharidosis IVAAR
GALTGalactosemiaAR
GAMTGuanidinoacetate methyltransferase deficiencyAR
GANGiant axonal neuropathyAR
GARSNeuropathy, distal hereditary motor, Charcot-Marie-Tooth diseaseAD
GARS1Spinal muscular atrophy, infantile, James typeAD
GATAD2BGAND syndromeAD
GATMArginine:glycine amidinotransferase deficiencyAD/AR
GBALewy body dementia, susceptibility toAD
GBA2Cerebellar ataxia with spasticityAR
GBE1Glycogen storage diseaseAR
GCDHGlutaric aciduriaAR
GCH1Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive DystoniaAD/AR
GCKDiabetes mellitus, permanent neonatal 1AR
GCSHGlycine encephalopathyAR
GDAP1Charcot-Marie-Tooth diseaseAD/AR
GDI1Mental retardation, X-linked 41XLD
GDNFPheochromocytoma, modifier ofAD
GFAPAlexander diseaseAD
GFERMyopathy, mitochondrial progressive, with congenital cataract and developmental delayAR
GFM1Combined oxidative phosphorylation deficiencyAR
GFM2Combined oxidative phosphorylation deficiencyAR
GFPT1Myasthenic syndrome, congenitalAR
GIGYF2Parkinson disease 11-
GJA1Oculodentodigital dysplasia, autosomal recessiveAR
GJB1Charcot-Marie-Tooth neuropathyXL
GJB3Deafness, autosomal dominant 2BAD
GJC2Spastic paraplegia, Lymphedema, hereditary, Leukodystrophy, hypomyelinatingAD/AR
GKGlycerol kinase deficiencyXLR
GLAFabry diseaseXL
GLB1GM1-gangliosidosis, type IIAR
GLDCGlycine encephalopathyAR
GLDNLethal congenital contracture syndrome 11AR
GLE1Congenital arthrogryposis with anterior horn cell diseaseAR
GLI2Culler-Jones syndromeAD
GLI3Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4AD
GLRA1Hyperekplexia 1AD, AR
GLRBHyperekplexia 2AR
GLRX5Spasticity, childhood-onset, with hyperglycinemiaAR
GLS
GLUD1Hyperinsulinism-hyperammonemia syndromeAD
GLULGlutamine deficiency, congenitalAR
GLYCTKD-glyceric aciduriaAR
GM2AGM2-gangliosidosis, AB variantAR
GMPPAAlacrima, achalasia, and mental retardation syndromeAR
GMPPBMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Limb-girdle muscular dystrophy-dystroglycanopathyAR
GNALPrimary torsion dystoniaAD
GNAO1Epileptic encephalopathy, early infantile, Epileptic encephalopathy, early infantile, 17AD
GNAQCapillary malformations, congenital, 1, somatic, mosaic-
GNASPseudohypoparathyroidism IcAD
GNB1Mental retardation, autosomal dominant 42AD
GNB4Charcot-Marie-Tooth diseaseAD
GNB5Intellectual developmental disorder with cardiac arrhythmiaAR
GNEProximal myopathy and ophthalmoplegia, Nonaka myopathy, SialuriaAD/AR
GNPATRhizomelic chondrodysplasia punctata, type 2AR
GNPTABMucolipidosis III alpha/betaAR
GNPTGMucolipidosis III gammaAR
GNSMucopolysaccharidosis type IIIDAR
GOLGA2Microcephaly, seizures, and developmental delayAR
GOSR2Epilepsy, progressive myoclonic 6AR
GOT2Epileptic encephalopathy, early infantile, 82AR
GPAA1Cerebellar atrophy, developmental delay, and seizures (CADEDS)AR
GPC3Simpson-Golabi-Behmel syndrome, type 1XLR
GPC4Keipert syndromeXLR
GPC6Omodysplasia 1AR
GPHNHyperekplexia, Molybdenum cofactor deficiencyAD/AR
GPHNMolybdenum cofactor deficiency CAR
GPIHemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiencyAR
GPR143Nystagmus, congenital, Ocular albinismXL
GPSM2Deafness, Chudley-McCullough syndromeAR
GPT2Neurodevelopmental disorder with microcephaly and spastic paraplegiaAR
GPX1Hemolytic anemia due to glutathione peroxidase deficiencyAR
GRHPRHyperoxaluria, primary, type IIAR
GRIA1Intellectual developmental disorder, autosomal dominant 67-
GRIA2Neurodevelopmental disorder with language impairment and behavioral abnormalitiesAD
GRIA3Intellectual developmental disorderXL
GRIA4Intellectual disability and seizures
GRID2Spinocerebellar ataxiaAR
GRIK2Mental retardation, autosomal recessive 6AR
GRIN1Beck-Fahrner syndrome, Mental retardation, autosomal dominant 8AD/AR
GRIN2AEpilepsy, focal, with speech disorderAD
GRIN2BEpileptic encephalopathy, early infantile, Intellectual developmental disorderAD
GRIN2DEpileptic encephalopathy, early infantile, 46AD
GRIP1Fraser syndrome 3AR
GRM1Spinocerebellar ataxiaAD/AR
GRNFrontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosisAD/AR
GSNAmyloidosis, Finnish typeAD
GSRHemolytic anemia due to glutathione reductase deficiencyAR
GSSGlutathione synthetase deficiencyAR
GTPBP2Jaberi-Elahi syndromeAR
GTPBP3Combined oxidative phosphorylation deficiency 23AR
GUF1Epileptic encephalopathy, early infantile 40
GUSBMucopolysaccharidosis VIIAR
GYG1Glycogen storage disease, Polyglucosan body myopathy 2AR
GYS1Glycogen storage diseaseAR
HACE1Spastic paraplegia and psychomotor retardation with or without seizuresAR
HADH3-hydroxyacyl-CoA dehydrogenase deficiencyAR
HADHATrifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyAR
HADHBTrifunctional protein deficiencyAR
HAMPHemochromatosis, type 2BAR
HARSCharcot-Marie-Tooth disease, axonal, type 2W, Usher syndrome, type 3BAD/AR
HARS2Perrault syndromeAR
HAX1Neutropenia, severe congenital 3, autosomal recessiveAR
HBBErythrocytosis 6AD
HCCSLinear skin defects with multiple congenital anomalies 1 (MIDAS syndrome)XL
HCFC1Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )XLR
HCN1Epileptic encephalopathy, early infantileAD
HCN2EpilepsyAD/AR
HDAC4Neurodevelopmental disorder with central hypotonia and dysmorphic faciesAD
HDAC8Cornelia de Lange syndrome 5XLD
HECW2Neurodevelopmental disorder with hypotonia, seizures, and absent languageAD
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts, remittingAD/AR
HERC2[Skin/hair/eye pigmentation 1, blond/brown hair]AR
HESX1Septooptic dysplasia, Pituitary hormone deficiency, combined, Isolated growth hormone deficiencyAR/AD
HEXATay-Sachs disease, GM2-gangliosidosis, Hexosaminidase A deficiencyAR
HEXBSandhoff diseaseAR
HEXBSandhoff disease, infantile, juvenile, and adult formsAR
HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C)AR
HIBCH3-hydroxyisobutryl-CoA hydrolase deficiencyAR
HIKESHILeukodystrophy, hypomyelinating, 13AR
HINT1Axonal neuropathy with neuromyotoniaAR
HIVEP2Mental retardation, autosomal dominant 43AD
HK1Retinitis pigmentosa 79AD
HLCSHolocarboxylase synthetase deficiencyAR
HMBSPorphyria, acute intermittentAD
HMGCLHMG-CoA lyase deficiencyAR
HMGCS2HMG-CoA synthase-2 deficiencyAR
HNMTAsthma, susceptibility toAD
HNRNPA1Amyotrophic lateral sclerosis 20AD
HNRNPA2B1?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2AD
HNRNPDLMuscular dystrophy, limb-girdle, type 1GAD
HNRNPH2Mental retardation, X-linked, syndromic, Bain typeXLD
HNRNPRNeurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities-
HNRNPUIntellectual disability and seizuresAD
HOGA1Hyperoxaluria, primary, type IIIAR
HOXA1Bosley-Salih-Alorainy syndromeAR
HOXD10Vertical talus, congenitalAD
HPCADystonia 2, torsion, autosomal recessiveAR
HPDHawkinsinuriaAD
HPRT1Lesch-Nyhan syndrome, Kelley-Seegmiller syndromeXL
HPS1Hermansky-Pudlak syndrome 1AR
HPS4Hermansky-Pudlak syndrome 4AR
HPS5Hermansky-Pudlak syndrome 5AR
HPS6Hermansky-Pudlak syndrome 6AR
HRASThyroid carcinoma, follicular, somatic-
HSD11B1Cortisone reductase deficiency 2AD
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromicXL
HSD17B4Perrault syndrome 1AR
HSD3B2Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiencyAR
HSPA9Even-plus syndromeAR
HSPB1Neuropathy, distal hereditary motor, Charcot-Marie-Tooth diseaseAD
HSPB3?Neuronopathy, distal hereditary motor, type IICAD
HSPB8Charcot-Marie-Tooth disease, Distal hereditary motor neuronopathyAD
HSPD1Leukodystrophy, hypomyelinating, 4AR
HSPG2Schwartz-Jampel syndrome, type 1AR
HTRA1Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2 (CADASIL2), Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)AD/AR
HTRA2Parkinson disease 13-
HTTHuntington disease, Lopes-Maciel-Rodan syndrome (LOMARS)AD/AR
HUWE1Mental retardation, X-linked syndromic, Turner typeXL
HYAL1?Mucopolysaccharidosis type IXAR
HYDINCiliary dyskinesia, primary, 5AR
IARS2?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasiaAR
IBA57Multiple mitochondrial dysfunctions syndrome 3, Spastic paraplegia 74, autosomal recessiveAR
ICKEndocrine-cerebroosteodysplasia, Epilepsy, juvenile myoclonicAD/AR
IDH2D-2-hydroxyglutaric aciduria 2-
IDH3BRetinitis pigmentosa 46AR
IDSMucopolysaccharidosis IIXLR
IDUAMucopolysaccharidosis IsAR
IER3IP1Microcephaly, epilepsy, and diabetes syndromeAR
IFIH1Singleton-Merten syndrome, Aicardi-Goutieres syndrome 7AD/AR
IFT140Retinitis pigmentosa 80AR
IFT172Retinitis pigmentosa 71AR
IFT27?Bardet-Biedl syndrome 19AR
IGBP1Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathiaXL
IGF1Growth retardation with deafness and mental retardation due to IGF1 deficiencyAR
IGF1RInsulin-like growth factor I, resistance toAD, AR
IGHMBP2Spinal muscular atrophy, distal, Charcot-Marie-Tooth diseaseAR
IKBKAPDysautonomia, familial, Hereditary sensory and autonomic neuropathyAR
IL1RAPL1Mental retardation, X-linked 21/34XLR
IMPA1Mental retardation, autosomal recessive 59AR
INF2Glomerulosclerosis, Charcot-Marie-Tooth diseaseAD
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)AR
INPP5KMuscular dystrophy, congenital, with cataracts and intellectual disability (MDCCAID)AR
INVSNephronophthisis 2, infantileAR
IQSEC2Intellectual developmental disorderXL
IRF2BPLNeurodevelopmental disorder with hypotonia, seizures, and absent languageAD
IRX5Hamamy syndromeAR
ISCA1Multiple mitochondrial dysfunctions syndrome 5AR
ISCA2Multiple mitochondrial dysfunctions syndrome 4AR
ISCUMyopathy with lactic acidosisAR
ISPDMuscular dystrophy-dystroglycanopathyAR
ITGA7Muscular dystrophy, congenital, due to integrin alpha-7 deficiencyAR
ITGB3Glanzmann thrombasthenia 2-
ITM2BDementia, familial Danish, Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, Cerebral amyloid angiopathyAD
ITPAEpileptic encephalopathy, early infantile, 35AR
ITPR1Spinocerebellar ataxiaAD
IVDIsovaleric acidemiaAR
JAG1Alagille syndrome 1AD
JAM2Basal ganglia calcification, idiopathic, 8, autosomal recessiveAR
JAM3Hemorrhagic destruction of the brain, subependymal calcification, and cataractsAR
KANK1Cerebral palsy, spastic quadriplegic, 2-
KANSL1Koolen-De Vries syndromeAD
KARSCharcot-Marie-Tooth disease, Deafness, autosomal recessive, LeukoencephalopathyAR
KARS1?Charcot-Marie-Tooth disease, recessive intermediate, BAR
KAT6AArboleda-Tham syndromeAD
KAT6BSBBYSS syndromeAD
KAT8Li-Ghorgani-Weisz-Hubshman syndromeAD
KATNB1Lissencephaly 6, with microcephalyAR
KBTBD13Nemaline myopathyAD
KCNA1Episodic ataxia/myokymia syndromeAD
KCNA2Epileptic encephalopathy, early infantileAD
KCNB1Early infantile epileptic encephalopathyAD
KCNC1Epilepsy, progressive myoclonicAD
KCNC3Spinocerebellar ataxiaAD
KCND3Brugada syndrome, Spinocerebellar ataxia 19, Spinocerebellar ataxia 22AD
KCND3Brugada syndrome 9AD
KCNE3?Brugada syndrome 6-
KCNH1Temple-Baraitser syndrome, Zimmermann-Laband syndrome 1AD/AR
KCNJ1Bartter syndrome, type 2AR
KCNJ10Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueductAR/Digenic
KCNJ2Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillationAD
KCNK18Migraine, with or without aura, susceptibility to, 13AD
KCNK4Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndromeAD
KCNK9Birk-Barel syndrome-
KCNMA1Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy (PNKD3), Cerebellar atrophy, developmental delay, and seizures (CADEDS)AD/AR
KCNQ2Epileptic encephalopathy, early infantile, Benign familial neonatal seizures, MyokymiaAD
KCNQ3Seizures, benign neonatalAD
KCNQ5Mental retardation, autosomal dominant 46AD
KCNT1Epilepsy, nocturnal frontal lobeAD
KCNT2Epileptic encephalopathyAD
KCTD17Dystonia 26, myoclonicAD
KCTD3Epileptic encephalopathyAR
KCTD7Epilepsy, progressive myoclonicAR
KDM1ACleft palate, psychomotor retardation, and distinctive facial featuresAD
KDM4BIntellectual developmental disorder, autosomal dominant 65AD
KDM5BMental retardation, autosomal recessive 65AR
KDM5CMental retardation, syndromic, Claes-JensenXL
KDM6AKabuki syndrome 2XLD
KIAA0196Spastic paraplegia, Ritscher-Schinzel syndrome (3C syndrome)AD/AR
KIAA1109Alkuraya-Kucinskas syndromeAR
KIAA1715AR
KIAA2022Intellectual developmental disorderXL
KIDINS220Ventriculomegaly and arthrogryposisAR
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationAD
KIF14?Meckel syndrome 12AR
KIF1ASpastic paraplegia, Neuropathy, hereditary sensory, Intellectual developmental disorderAD/AR
KIF1BPheochromocytoma, Neuroblastoma, Charcot-Marie-Tooth disease, type 2A1AD
KIF1BPGoldberg-Shprintzen megacolon syndromeAR
KIF1CSpastic ataxia 2, autosomal recessiveAR
KIF21AFibrosis of extraocular muscles, congenital, 3BAD
KIF2ACortical dysplasia, complex, with other brain malformations 3AD
KIF5CCortical dysplasia, complex, with other brain malformations 2AD
KIF7Joubert syndrome 12AR
KIFBPGoldberg-Shprintzen megacolon syndromeAR
KLF8Intellectual developmental disorderXL
KLHL40Nemaline myopathyAR
KLHL41Nemaline myopathyAR
KLHL7PERCHING syndromeAR
KMT2AWiedemann-Steiner syndromeAD
KMT2BDystonia 28, childhood-onsetAD
KMT2CKleefstra syndrome 2AD
KMT2DKabuki syndrome 1AD
KMT2ENeurodevelopmental disorderAD
KMT5BDevelopmental delay and seizures with or without movement abnormalities (DEDSM), Autism spectrum disorder, overgrowth syndrome with intellectual disabilityAD
KMT5BMental retardation, autosomal dominant 51AD
KNL1Microcephaly 4, primary, autosomal recessiveAR
KPTNMental retardation, autosomal recessive 41AR
KRASArteriovenous malformation of the brain, somatic-
KRIT1Cerebral cavernous malformationsAD
KRT5Epidermolysis bullosa simplex-MPAD
KRT8Cirrhosis, cryptogenicAR
KYMyopathy, myofibrillar, 7AR
L1CAMHydrocephalus with congenital idiopathic intestinal pseudoobstructionXLR
L2HGDHL-2-hydroxyglutaric aciduriaAR
LAMA1Poretti-Boltshauser syndromeAR
LAMA2Muscular dystrophy, congenital merosin-deficientAR
LAMB1Lissencephaly 5AR
LAMB2Nephrotic syndrome, Pierson syndromeAR
LAMC3Cortical malformations, occipitalAR
LAMP2Danon diseaseXL
LARGEMuscular dystrophy-dystroglycanopathyAR
LARGE1Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6AR
LARS2Perrault syndrome, Hydrops, lactic acidosis, and sideroblastic anemia (HLASA)AR
LAS1LSpinal muscular atrophy with respiratory distressXL
LATImmunodeficiency 52AR
LBR?Reynolds syndromeAD
LDB3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD
LDHAGlycogen storage disease XIAR
LEPObesity, morbid, due to leptin deficiencyAR
LGI1Epilepsy, familial temporal lobeAD
LGI4Arthrogryposis multiplex congenita 1, neurogenic, with myelin defectAR
LHX3Pituitary hormone deficiency, combined, 3AR
LHX4Pituitary hormone deficiency, combined, 4AD
LIASPyruvate dehydrogensae lipoic acid synthetase deficiencyAR
LIG4Severe combined immunodeficiency with sensitivity to ionizing radiation, LIG4 syndromeAR
LIMS2Muscular dystrophy, limb-girdleAR
LINS1Mental retardation, autosomal recessive 27AR
LIPAWolman diseaseAR
LIPT1Lipoyltransferase 1 deficiencyAR
LIPT2Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalitiesAR
LITAFCharcot-Marie-Tooth diseaseAD
LMAN2L?Mental retardation, autosomal recessive, 52AR
LMBRD1Methylmalonic aciduria and homocystinuria, cblF typeAR
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR
LMNB1Leukodystrophy, demyelinating, adult-onset, autosomal dominantAD
LMNB2Liopdystrophy, partial, acquired, Epilepsy, progressive myoclonic, 9AD/AR
LMOD3Severe congenital nemaline myopathy, Typical nemaline myopathyAR
LMX1BNail-patella syndromeAD
LONP1CODAS syndromeAR
LPIN1Myoglobinuria, acute recurrent, autosomal recessiveAR
LRBAImmunodeficiency, common variable, 8, with autoimmunityAR
LRP1?Keratosis pilaris atrophicansAR
LRP2Donnai-Barrow syndromeAR
LRP4?Myasthenic syndrome, congenital, 17AR
LRPPRCLeigh syndrome, French-Canadian typeAR
LRRK2Parkinson disease 8AD
LRSAM1Charcot-Marie-Tooth diseaseAD/AR
LYRM7Mitochondrial complex III deficiency, nuclear type 8AR
LYSTChediak-Higashi syndromeAR
LZTFL1Bardet-Biedl syndrome 17AR
MACF1LissencephalyAD
MAFAyme-Gripp syndromeAD
MAGSpastic paraplegia 75, autosomal recessiveAR
MAGEL2Schaaf-Yang syndromeAD
MAGI2Nephrotic syndrome 15AR
MAGT1Congenital disorder of glycosylation, type IccXLR
MAMLD1Hypospadias 2, X-linkedXLR
MAN1B1Rafiq syndromeAR
MANBAMannosidosis, betaAR
MAOAAntisocial behaviorXLR
MAP2K1Cardiofaciocutaneous syndrome 3AD
MAP2K2Cardiofaciocutaneous syndrome 4AD
MAP3K20Centronuclear myopathyAR
MAPTPick disease, Frontotemporal dementia, Parkinson-dementia syndrome, Supranuclear palsy, progressiveAD/AR
MARSInterstitial lung and liver disease, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease, axonal, type 2UAD/AR
MARS1Charcot-Marie-Tooth disease, axonal, type 2UAD
MARS2Combined oxidative phosphorylation deficiencyAR
MASP13MC syndrome 1AR
MATR3Amyotrophic lateral sclerosis 21AD
MBD5Intellectual developmental disorderAD
MBOAT7Mental retardation, autosomal recessive 57AR
MBTPS2Osteogenesis imperfecta, type XIXXLR
MCCC13-Methylcrotonyl-CoA carboxylase 1 deficiencyAR
MCCC23-Methylcrotonyl-CoA carboxylase 2 deficiencyAR
MCEEMethylmalonyl-CoA epimerase deficiencyAR
MCM3APCharcot-Marie-Tooth neuropathyAR
MCM4Immunodeficiency 54AR
MCM6Lactase persistence/nonpersistenceAD
MCOLN1Mucolipidosis IVAR
MCPH1Microcephaly 1, primary, autosomal recessiveAR
MDH2Epileptic encephalopathy, early infantile, 51AR
MECP2Angelman-like syndrome, Autism, Rett syndrome, Encephalopathy, Intellectual developmental disorderXL
MECRDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)AR
MED12Ohdo syndrome, Intellectual disability with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndromeXL
MED13Intellectual developmental disorder 61AD
MED13LTransposition of the great arteries, dextro-looped 1AD
MED17Microcephaly, postnatal progressive, with seizures and brain atrophyAR
MED23Mental retardation, autosomal recessive 18AR
MED25Basel-Vanagait-Smirin-Yosef syndrome, Charcot-Marie-Tooth diseaseAR
MEF2CIntellectual developmental disorderAD
MEGF10Myopathy, early-onset, areflexia, respiratory distress, and dysphagiaAR
MEIS2Cleft palate, cardiac defects, and mental retardationAD
METTL23Mental retardation, autosomal recessive 44AR
MFFEncephalopathy due to defective mitochondrial and peroxisomal fission 2AR
MFN2Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth diseaseAD/AR
MFRPMicrophthalmia, isolated 5AR
MFSD2ANeurodevelopmental disorder with progressive microcephaly, spasticity, and brain abnormalitiesAR
MFSD8Ceroid lipofuscinosis, neuronalAR
MGAT2Congenital disorder of glycosylation, type IIaAR
MGME1Mitochondrial DNA depletion syndrome 11AR
MIB1Left ventricular noncompaction 7AD
MICU1Myopathy with extrapyramidal signsAR
MID1Opitz GBBB syndrome, type IXLR
MIPEPCombined oxidative phosphorylation deficiency 31AR
MITFMelanoma, cutaneous malignant, susceptibility to, 8-
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndromeAR
MKS1Bardet-Biedl syndrome, Meckel syndromeAR
MLC1Megalencephalic leukoencephalopathy with subcortical cystsAR
MLPHGriscelli syndrome, type 3AR
MLYCDMalonyl-CoA decarboxylase deficiencyAR
MMAAMethylmalonic aciduria, vitamin B12-responsiveAR
MMABMethylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation typeAR
MMACHCMethylmalonic aciduria and homocystinuria, cblC typeAR
MMESpinocerebellar ataxia 43, Charcot-Marie-Tooth disease, axonal, type 2TAD/AR
MMUTMethylmalonic aciduria, mut(0) typeAR
MOCS1Molybdenum cofactor deficiency AAR
MOCS2Molybdenum cofactor deficiencyAR
MOGSCongenital disorder of glycosylation, type IIbAR
MORC2Charcot-Marie-Tooth disease type, axonal, type 2Z, Neurodevelopmental disorderAD
MPC1Mitochondrial pyruvate carrier deficiencyAR
MPDU1Congenital disorder of glycosylation, type IfAR
MPDZHydrocephalus, congenital, 2, with or without brain or eye anomaliesAR
MPICongenital disorder of glycosylation, type IbAR
MPV17Mitochondrial DNA depletion syndromeAR
MPZNeuropathy, Roussy-Levy syndrome, Dejerine-Sottas disease, Charcot-Marie-Tooth diseaseAD
MRE11Ataxia-telangiectasia-like disorder 1AR
MRE11AAtaxia-telangiectasia-like disorder-1AR
MRPL3Combined oxidative phosphorylation deficiency 9AR
MRPL44Combined oxidative phosphorylation deficiency 16AR
MRPS16Combined oxidative phosphorylation deficiency 2AR
MRPS2Combined oxidative phosphorylation deficiency 36AR
MRPS22Ovarian dysgenesis 7AR
MRPS34Combined oxidative phosphorylation deficiency 32AR
MSL3Mental retardation, X-linkedXL
MSMO1Microcephaly, congenital cataract, and psoriasiform dermatitisAR
MSR1Barrett esophagus/esophageal adenocarcinoma-
MSRB3Deafness, autosomal recessive 74AR
MSTO1Myopathy, mitochondrial, and ataxiaAD, AR
MSX1Orofacial cleft 5AD
MSX2Parietal foramina with cleidocranial dysplasiaAD
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiency, Deafness, mitochondrialMitochondrial
MT-CO2Cytochrome c oxidase deficiencyMitochondrial
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial
MT-CYBMitochondrial
MTFMTCombined oxidative phosphorylation deficiency 15AR
MTHFD1Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemiaAR
MTHFRHomocystinuria due to MTHFR deficiencyAR
MTHFSNeurodevelopmental disorder with microcephaly, epilepsy, and hypomyelinationAR
MTM1Myopathy, centronuclearXL
MTMR14Centronuclear myopathy, autosomal, modifier ofAD
MTMR2Charcot-Marie-Tooth diseaseAR
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial
MT-ND4LLeber hereditary optic neuropathyMitochondrial
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial
MTO1Combined oxidative phosphorylation deficiency 10AR
MTORSmith-Kingsmore syndromeAD
MTORFocal cortical dysplasia, type II, somatic-
MTPAPSpastic ataxiaAR
MTPAP?Spastic ataxia 4, autosomal recessiveAR
MTRNeural tube defects, folate-sensitive, susceptibility toAR
MTRFRSpastic paraplegia 55, autosomal recessiveAR
MT-RNR1Deafness, mitochondrialMitochondrial
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial
MTRRHomocystinuria-megaloblastic anemia, cbl E typeAR
MT-TAMitochondrial
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial
MT-TDMitochondrial
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial
MT-TGMitochondrial
MT-THMitochondrial
MT-TIMitochondrial
MT-TKMyoclonic epilepsy with ragged red fibers, Leigh syndromeMitochondrial
MT-TL1Cytochrome c oxidase deficiency, Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Diabetes-deafness syndrome, Cyclic vomiting syndrome, SIDS, susceptibility toMitochondrial
MT-TL2Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Mitochondrial Myopathy, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial
MT-TMLeigh syndrome, Mitochondrial multisystemic disorderMitochondrial
MT-TNProgressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial
MTTPAbetalipoproteinemiaAR
MT-TPMitochondrial
MT-TQMitochondrial multisystemic disorderMitochondrial
MT-TREncephalopathy, mitochondrialMitochondrial
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial
MT-TS2Mitochondrial multisystemic disorderMitochondrial
MT-TTMitochondrial
MT-TVHypertrophic cardiomyopathy (HCM), Leigh syndrome, Mitochondrial multisystemic disorder, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial
MT-TWLeigh syndrome, Myopathy, mitochondrialMitochondrial
MT-TYMitochondrial multisystemic disorderMitochondrial
MUSKMyasthenic syndrome, congenital, Fetal akinesia deformation sequenceAR
MYBPC1Arthrogryposis, distal, type 1BAD
MYBPC3Cardiomyopathy, hypertrophic, 4AD, AR
MYCNFeingold syndromeAD
MYH2Proximal myopathy and ophthalmoplegiaAD, AR
MYH3Arthrogryposis, distal, type 2B3 (Sheldon-Hall)AD
MYH7Hypertrophic cardiomyopathy (HCM), Myopathy, myosin storage, Myopathy, distal, Dilated cardiomyopathy (DCM)AD
MYH8Trismus-pseudocamptodactyly syndromeAD
MYL1Myopathy, congenital, with fast-twitch (type II) fiber atrophyAR
MYL2Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathyAR
MYMKCarey-Fineman-Ziter syndromeAR
MYO18BKlippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphismAR
MYO1EGlomerulosclerosis, focal segmental, 6AR
MYO5AGriscelli syndrome, type 1AR
MYO9ACongenital myasthenic syndromeAR
MYO9BCeliac disease, susceptibility to, 4-
MYORGBasal ganglia calcification, idiopathic, 7, autosomal recessiveAR
MYOTMyopathy, myofibrillar, Muscular dystrophy, limb-girdle, 1A, Myopathy, spheroid bodyAD
MYPNCardiomyopathy, hypertrophic, 22AD
MYT1LMental retardation, autosomal dominant 39AD
NAA10Ogden syndromeXLD, XLR
NAA15Mental retardation, autosomal dominant 50AD
NACC1Neurodevelopmental disorderAD
NADK22, 4-dienoyl-CoA reductase deficiencyAR
NAGASchindler disease, type IIIAR
NAGLU?Charcot-Marie-Tooth disease, axonal, type 2VAD
NAGSN-acetylglutamate synthase deficiencyAR
NALCNCongenital contractures of the limbs and face, hypotonia, and developmental delayAD
NARS2?Deafness, autosomal recessive 94AR
NAXDEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2AR
NAXEEncephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathyAR
NBASShort stature, optic nerve atrophy, and Pelger-Huet anomalyAR
NBEANeurodevelopmental disorder with or without early-onset generalized epilepsyAD
NCAPD3Microcephaly 22, primary, autosomal recessiveAR
NDE1Lissencephaly 4 (with microcephaly)AR
NDPNorrie diseaseXLR
NDRG1Charcot-Marie-Tooth diseaseAR
NDST1Mental retardation, autosomal recessive 46AR
NDUFA1Mitochondrial complex I deficiency, nuclear type 12XLR
NDUFA10Mitochondrial complex I deficiency, nuclear type 22AR
NDUFA11Mitochondrial complex I deficiency, nuclear type 14AR
NDUFA12?Mitochondrial complex I deficiency, nuclear type 23AR
NDUFA2Mitochondrial complex I deficiency, nuclear type 13AR
NDUFA6Mitochondrial complex I deficiency, nuclear type 33AR
NDUFAF1Mitochondrial complex I deficiency, nuclear type 11AR
NDUFAF2Mitochondrial complex I deficiency, nuclear type 10AR
NDUFAF3Mitochondrial complex I deficiencyAR
NDUFAF4Mitochondrial complex I deficiency, nuclear type 15AR
NDUFAF5Mitochondrial complex I deficiencyAR
NDUFAF6Mitochondrial complex I deficiency, Leigh syndromeAR
NDUFB11Linear skin defects with multiple congenital anomalies 3XLD
NDUFB3Mitochondrial complex I deficiency, nuclear type 25AR
NDUFB8Mitochondrial complex I deficiency, nuclear type 32AR
NDUFB9?Mitochondrial complex I deficiency, nuclear type 24AR
NDUFS1Mitochondrial complex I deficiency, nuclear type 5AR
NDUFS2Mitochondrial complex I deficiencyAR
NDUFS3Mitochondrial complex I deficiency, nuclear type 8AR
NDUFS4Mitochondrial complex I deficiency, Leigh syndromeAR
NDUFS6Mitochondrial complex I deficiencyAR
NDUFS7Mitochondrial complex I deficiency, Leigh syndromeAR
NDUFS8Mitochondrial complex I deficiency, Leigh syndromeAR
NDUFV1Mitochondrial complex I deficiencyAR
NDUFV2Mitochondrial complex I deficiency, nuclear type 7AR
NEBNemaline myopathy 2, autosomal recessiveAR
NECAP1Developmental and epileptic encephalopathy 21AR
NECTIN1Orofacial cleft 7AR
NEDD4LPeriventricular nodular heterotopia 7AD
NEFHCharcot-Marie-Tooth disease, axonal, type 2CCAD
NEFLCharcot-Marie-Tooth diseaseAD
NEK1Short-rib thoracic dysplasia 6 with or without polydactylyAR, DR
NEK10Ciliary dyskinesia, primary, 44AR
NEU1SialidosisAR
NEUROD2Epileptic encephalopathyAD
NEXMIFMental retardation, X-linked 98XLD
NF1Watson syndromeAD
NFE2L2Immunodeficiency, developmental delay, and hypohomocysteinemiaAD
NFIABrain malformations with or without urinary tract defectsAD
NFIBMacrocephalyAD
NFIXMarshall-Smith syndromeAD
NFU1Multiple mitochondrial dysfunctions syndrome 1AR
NGFNeuropathy, hereditary sensory and autonomicAR
NGLY1Congenital disorder of deglycosylationAR
NHEJ1Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation-
NHLRC1Epilepsy, progressive myoclonicAR
NHSNance-Horan syndromeXLD
NIPA1Spastic paraplegia 6, autosomal dominantAD
NIPBLCornelia de Lange syndrome 1AD
NKX2-1Thyroid cancer, nonmedullary, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, Chorea, hereditary benignAD
NKX6-2Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophyAR
NLGN3Autism, Asperger syndromeXL
NLGN4XAutism, Asperger syndrome, Intellectual developmental disorderXL
NLGN4XAsperger syndrome susceptibility, X-linked 2XL
NLRP12Familial cold autoinflammatory syndrome 2AD
NLRP3CINCA syndromeAD
NNTGlucocorticoid deficiency 4, with or without mineralocorticoid deficiencyAR
NODALHeterotaxy, visceralAD
NOL3Myoclonus, familial corticalAD
NONOMental retardation, X-linked, syndrome 34, Left ventricular non-compaction cardiomyopathy (LVNC)XL
NOTCH1Adams-Oliver syndrome 5AD
NOTCH2Alagille syndrome 2AD
NOTCH3Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Lateral meningocele syndromeAD
NPC1Niemann-Pick diseaseAR
NPC2Niemann-pick diseaseAR
NPHP1Nephronophthisis, Joubert syndrome, Senior-Loken syndromeAR
NPHP3Nephronophthisis 3AR
NPR2Acromesomelic dysplasia, Maroteaux typeAR
NPRL3Epilepsy, familial focal, with variable foci 3AD
NR2F1Bosch-Boonstra optic atrophy syndromeAD
NR3C2Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy-
NRXN1Pitt-Hopkins like syndrome, Developmental delay with or without dysmorphic facies and autismAD/AR
NSD1Sotos syndrome, Weaver syndrome, Beckwith-Wiedemann syndromeAD
NSD2Rauch-Steindl syndromeAD
NSDHLCongenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndromeXL
NSMCE3Lung disease, immunodeficiency, and chromosome breakage syndromeAR
NSUN2Mental retardation, autosomal recessive 5AR
NT5C2Spastic paraplegia 45AR
NTHL1Familial adenomatous polyposis 3AR
NTRK1Insensitivity to pain, congenital, with anhidrosis, Medullary thyroid carcinoma, familialAR
NTRK2Obesity, hyperphagia, and developmental delayAD
NUBPLMitochondrial complex I deficiencyAR
NUBPLMitochondrial complex I deficiency, nuclear type 21AR
NUP133Nephrotic syndrome, type 18AR
NUP62Striatonigral degeneration, infantileAR
NUS1?Congenital disorder of glycosylation, type 1aaAR
NXF5Familial heart block and focal segmental glomerulosclerosis, Mental retardation, syndromic, X-linkedXL
OATGyrate atrophy of choroid and retina with or without ornithinemiaAR
OCLNPseudo-TORCH syndrome 1AR
OCRLLowe syndromeXLR
ODAD4Ciliary dyskinesia, primary, 35AR
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL
OGDHAlpha-ketoglutarate dehydrogenase deficiencyAR
OPA1Optic atrophy, Optic atrophy 1, Optic atrophy with or without deafness, Ophthalmoplegia, myopathy, ataxia, and neuropathy, Behr synrome, Mitochondrial DNA depletion syndrome 14AD/AR
OPA33-methylglutaconic aciduria, type IIIAR
OPHN1Mental retardation, with cerebellar hypoplasia and distinctive facial appearanceXL
OPTNGlaucoma, open angle, Glaucoma, normal tension, Amyotrophic lateral sclerosis 12AD
ORC1Meier-Gorlin syndrome 1AR
OSGEPGalloway-Mowat syndrome 3AR
OTCOrnithine transcarbamylase deficiencyXL
OTUD6BIntellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomaliesAR
OTX2Microphthalmia, syndromic, Pituitary hormone deficiency, combined, Retinal dystrophy, early-onset, and pituitary dysfunctionAD
OXCT1Succinyl CoA:3-oxoacid CoA transferase deficiencyAR
P4HA2Myopia 25, autosomal dominantAD
P4HBCole-Carpenter syndrome 1AD
P4HTMIntellectual disability and seizuresAR
PABPN1Oculopharyngeal muscular dystrophyAD/AR
PACS1Mental retardation, autosomal dominant 17 (Schuss-Hoeijmakers syndrome)AD
PACS2Early infantile epileptic encephalopathyAD
PAFAH1B1Lissencephaly, Subcortical laminar heterotopiaAD
PAHPhenylketonuriaAR
PAK1Intellectual developmental disorder with macrocephaly, seizures, and speech delayAD
PAK3Mental retardation, X-linked 30/47XLR
PAM16Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike typeAR
PANK2Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration, Neurodegeneration with brain iron accumulationAR
PARK2Parkinson disease, juvenileAR
PARK7Parkinson disease 7, autosomal recessive early-onsetAR
PARS2Alpers syndromeAR
PAX3Waardenburg syndrome, type 3AD, AR
PAX6Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome), Keratitis, Coloboma, ocular, Cataract with late-onset corneal dystrophy, Morning glory disc anomaly, Foveal hypoplasia, Aniridia, Optic nerve hypoplasia, Peters anomalyAD
PAX7Myopathy, congenital, progressive, with scoliosisAR
PBX1Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayAD
PCPyruvate carboxylase deficiencyAR
PCBD1Hyperphenylalaninemia, BH4-deficient, DAR
PCCAPropionicacidemiaAR
PCCBPropionicacidemiaAR
PCDH12Diencephalic-mesencephalic junction dysplasia syndrome 1AR
PCDH15Usher syndrome, type 1D/F digenicAR, DR
PCDH19Epileptic encephalopathy, early infantileXL
PCK2PEPCK deficiency, mitochondrialAR
PCLOPontocerebellar hypoplasiaAR
PCNTMicrocephalic osteodysplastic primordial dwarfism, type IIAR
PCYT2Spastic paraplegia 82, autosomal recessiveAR
PDCD1Systemic lupus erythematosus, susceptibility to, 2-
PDCD10Cerebral cavernous malformationsAD
PDE10AStriatal degeneration, autosomal dominant 2, Infantile-onset dyskinesiaAD/AR
PDE6DJoubert syndrome 22AR
PDE8BStriatal degeneration, autosomal dominantAD
PDGFBBasal ganglia calcification, idiopathic, 5AD
PDGFRBBasal ganglia calcification, idiopathic, 4, Kosaki overgrowth syndrome, Premature aging syndrome, Penttinen typeAD
PDHA1Pyruvate dehydrogenase E1-alpha deficiencyXLD
PDHBPyruvate dehydrogenase E1-beta deficiencyAR
PDHXLacticacidemia due to PDX1 deficiencyAR
PDK3Charcot-Marie-Tooth diseaseXL
PDP1Pyruvate dehydrogenase phosphatase deficiencyAR
PDSS1Coenzyme Q10 deficiency, primary, 2AR
PDSS2Coenzyme Q10 deficiencyAR
PDX1Pancreatic agenesis 1AR
PDYNSpinocerebellar ataxiaAD
PER2?Advanced sleep phase syndrome, familial, 1AD
PET100Mitochondrial complex IV deficiency, nuclear type 12AR
PEX1Heimler syndrome, Peroxisome biogenesis factor disorder 1A, Peroxisome biogenesis factor disorder 1BAR
PEX10Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder, AtaxiaAR
PEX11BPeroxisome biogenesis disorder 14BAR
PEX12Zellweger syndrome, Peroxisome biogenesis disorderAR
PEX13Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorderAR
PEX14Peroxisome biogenesis factor disorder 14, Zellweger syndromeAR
PEX16Zellweger syndrome, Peroxisome biogenesis disorderAR
PEX19Peroxisome biogenesis disorder, 19, Zellweger syndromeAR
PEX2Zellweger syndrome, Peroxisome biogenesis disorderAR
PEX26Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorderAR
PEX3Zellweger syndrome, Peroxisome biogenesis disorderAR
PEX5Adrenoleukodystrophy, neonatal, Rhizomelic chondrodysplasia punctata, Zellweger syndrome, Peroxisome biogenesis disorderAR
PEX6Heimler syndrome, Peroxisome biogenesis disorder 4A, Peroxisome biogenesis disorder 4BAR
PEX7Refsum disease, Rhizomelic CDP type 1AR
PFKMGlycogen storage disease VIIAR
PFN1Amyotrophic lateral sclerosis 18AD
PGAM2Glycogen storage disease XAR
PGAP1Mental retardation, autosomal recessive 42AR
PGAP2Hyperphosphatasia with mental retardation syndrome 3AR
PGK1Phosphoglycerate kinase 1 deficiencyXL
PGM1Congenital disorder of glycosylation, type ItAR
PHACTR1Epileptic encephalopathyAD
PHF6Borjeson-Forssman-Lehmann syndromeXL
PHF8Mental retardation syndrome, X-linked, Siderius typeXLR
PHGDHPhosphoglycerate dehydrogenase deficiencyAR
PHIPChung-Jansen syndromeAD
PHKA1Muscle glycogenosisXLR
PHKBGlycogen storage diseaseAR
PHOX2AFibrosis of extraocular muscles, congenital, 2AR
PHOX2BCentral hypoventilation syndrome, congenital, with or without Hirschsprung diseaseAD
PHYHRefsum diseaseAR
PIEZO2Arthrogryposis, distal, type 3AD
PIGAParoxysmal nocturnal hemoglobinuria, somatic-
PIGBEpileptic encephalopathyAR
PIGCGlycosylphosphatidylinositol biosynthesis defect 16AR
PIGGMental retardation, autosomal recessive 53AR
PIGHGlycosylphosphatidylinositol biosynthesis defect 17AR
PIGLCHIME syndromeAR
PIGNMultiple congenital anomalies-hypotonia-seizures syndrome 1AR
PIGOHyperphosphatasia with mental retardation syndrome 2AR
PIGPEpileptic encephalopathy, early infantile, 55AR
PIGQEpileptic encephalopathyAR
PIGSEpileptic encephalopathyAR
PIGTMultiple congenital anomalies-hypotonia-seizures syndrome 3AR
PIGUNeurodevelopmental disorder with brain anomalies, seizures, and scoliosisAR
PIGVHyperphosphatasia with mental retardation syndrome 1AR
PIGWHyperphosphatasia with mental retardation syndrome 5AR
PIK3CAKeratosis, seborrheic, somatic-
PIK3R2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1AD
PIK3R5Ataxia-oculomotor apraxia 3AR
PINK1Parkinson disease 6, early onsetAR
PIP5K1CLethal congenital contractural syndrome 3AR
PITRM1AR
PITX1Liebenberg syndromeAD
PITX2Anterior segment dysgenesis 4AD
PKLRAdenosine triphosphate, elevated, of erythrocytesAD
PLA2G6Neurodegeneration with brain iron accumulation 2BAR
PLAANeurodevelopmental disorder
PLCB1Epileptic encephalopathy, early infantileAR
PLCG2Familial cold autoinflammatory syndrome 3AD
PLECMuscular dystrophy, limb-girdle, Epidermolysis bullosaAD/AR
PLEKHG2Leukodystrophy and acquired microcephaly with or without dystoniaAR
PLEKHG5Spinal muscular atrophy, Charcot-Marie-Tooth diseaseAR
PLK4Microcephaly and chorioretinopathy, autosomal recessive, 2AR
PLNCardiomyopathy, dilated, 1P-
PLOD2Bruck syndrome 2AR
PLP1Spastic paraplegia, Pelizaeus-Merzbacher diseaseXL
PLPBPEpilepsy, early-onset, vitamin B6-dependentAR
PMM2Congenital disorder of glycosylationAR
PMP2
PMP22Neuropathy, inflammatory demyelinating, Roussy-Levy syndrome, Dejerine-Sottas disease, Neuropathy, hereditary, with liability to pressurve palsies, Charcot-Marie-Tooth diseaseAD/AR
PMPCASpinocerebellar ataxia, autosomal recessive 2AR
PMPCBMultiple mitochondrial dysfunctions syndrome 6AR
PNKDParoxysmal non-kinesigenic dyskinesiaAD
PNKPEpileptic encephalopathy, early infantile, Ataxia-oculomotorAR
PNPLA2Neutral lipid storage disease with myopathyAR
PNPLA6Laurence-Moon syndrome, Boucher-Neuhauser syndrome, Spastic paraplegia 39AR
PNPLA8?Mitochondrial myopathy with lactic acidosisAR
PNPOPyridoxamine 5'-phosphate oxidase deficiencyAR
PNPT1Deafness, autosomal recessive 70AR
POGLUT1Dowling-Degos disease 4, Muscular dystrophy, limb-girdle, type 2ZAD/AR
POGZMental retardation, autosomal dominant 37 (White-Sutton syndrome)AD
POLA1Van Esch-O'Driscoll syndromeXLR
POLGPOLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR
POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletionsAD
POLR1CLeukodystrophy, hypomyelinating, 11AR
POLR1DTreacher Collins syndrome 2AD, AR
POLR3ALeukodystrophy, hypomyelinatingAR
POLR3BLeukodystrophy, hypomyelinatingAD/AR
POMGNT1Muscular dystrophy-dystroglycanopathyAR
POMGNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8AR
POMKCongenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A, 12, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type C, 12, Muscle-eye brain disease, Walker-Warburg syndromeAR
POMT1Muscular dystrophy-dystroglycanopathyAR
POMT2Muscular dystrophy-dystroglycanopathyAR
PON1Microvascular complications of diabetes 5-
POP1Anauxetic dysplasia 2AR
PORCNFocal dermal hypoplasiaXLD
POT1Melanoma, cutaneous malignant, susceptibility to, 10AD
POU1F1Pituitary hormone deficiency, combined, 1AD, AR
PPM1DJansen de Vries syndromeAD
PPOXPorphyria variegataAD
PPP2CANeurodevelopmental disorder with hypotonia, seizures, and absent languageAD
PPP2R1AMental retardation, autosomal dominant 36AD
PPP2R5DMental retardation, autosomal dominant 35AD
PPP3CAEpilepitic encephalopathyAD
PPT1Ceroid lipofuscinosis, neuronalAR
PQBP1Renpenning syndromeXLR
PRDM12Neuropathy, hereditary sensory and autonomic, type VIIIAR
PREPLMyasthenic syndrome, congenital 22
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR
PRF1Hemophagocytic lymphohistiocytosis, familial, 2AR
PRICKLE1Epilepsy, progressive myoclonicAD/AR
PRICKLE1Epilepsy, progressive myoclonic 1BAR
PRICKLE2AD/AR
PRIMA1Epilepsy, nocturnal frontal lobeAR
PRKAG2Glycogen storage disease of heart, lethal congenitalAD
PRKCGSpinocerebellar ataxiaAD/AR
PRKCGSpinocerebellar ataxia 14AD
PRKNParkinson disease, juvenile, type 2AR
PRKRADystonia 16AR
PRMT7Short stature, brachydactyly, intellectual developmental disability, and seizuresAR
PRNPDementia, Lewy body, Creutzfeldt-Jakob disease, Huntington disease-like, Gerstmann-Straussler disease, Spongiform encephalopathy with neuropsychiatric features, Insomnia, fatal familialAD/AR
PRODHSchizophrenia, susceptibility to, 4AD
PROP1Pituitary hormone deficiency, combined, 2AR
PROSCEpilepsyAR
PRPHAmyotrophic lateral sclerosis, susceptibility toAD, AR
PRPS1Charcot-Marie-Tooth disease, X-linked recessive, 5XLR
PRRT2Episodic kinesigenic dyskinesia, Seizures, benign familial infantile, 2, Convulsions, familial infantile, with paroxysmal choreoathetosisAD
PRRX1Agnathia-otocephaly complexAD, AR
PRSS12Mental retardation, autosomal recessive 1AR
PRUNE
PRXDejerine-Sottas disease, Charcot-Marie-Tooth diseaseAR
PSAPKrabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency, Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiencyAD/AR
PSAT1Neu-Laxova syndrome 2AR
PSEN1Dilated cardiomyopathy (DCM), Acne inversa, familial, 3, Dementia, frontotemporal, Pick disease, Alzheimer diseaseAD
PSEN2Peripartum/pregnancy-associated cardiomyopathy, Dilated cardiomyopathy (DCM), Alzheimer disease, 4AD
PSMD12Stankiewicz-Isidor syndromeAD
PSPHPhosphoserine phosphatase deficiencyAR
PTCH1Basal cell carcinoma, somatic-
PTCHD1Autism, susceptibility to, X-linked 4XLR
PTENCowden syndrome 1AD
PTF1APancreatic and cerebellar agenesisAR
PTPN11Leukemia, juvenile myelomonocytic, somatic-
PTPN23Epileptic encephalopathyAR
PTPRCSevere combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positiveAR
PTRH2Infantile-onset multisystem neurologic, endocrine, and pancreatic diseaseAR
PTSHyperphenylalaninemia, BH4-deficientAR
PUM1Ataxia, Neurodevelopmental disorderAD
PURAIntellectual developmental disorderAD
PUS1Myopathy, lactic acidosis, and sideroblastic anemia 1AR
PUS3Neurodevelopmental disorder with microcephaly and gray scleraeAR
PXDNAnterior segment dysgenesis 7, with sclerocorneaAR
PYCR1Cutis laxa, autosomal recessive, type IIBAR
PYCR2Leukodystrophy, hypomyelinating 10AR
PYGMGlycogen storage diseaseAR
PYROXD1Myopathy, myofibrillar, 8AR
QARSMicrocephaly, progressive, seizures, and cerebral and cerebellar atrophyAR
QARS1Microcephaly, progressive, seizures, and cerebral and cerebellar atrophyAR
QDPRHyperphenylalaninemia, BH4-deficientAR
QRICH1Ververi-Brady syndromeAD
RAB11A
RAB11B
RAB18Warburg micro syndrome 3AR
RAB27AGriscelli syndrome, type 2AR
RAB39BWaisman parkinsonism-mental retardation syndrome, Intellectual developmental disorderXL
RAB3GAP1Martsolf syndrome 2AR
RAB3GAP2Warburg micro syndrome 2AR
RAB7ACharcot-Marie-Tooth diseaseAD
RAB7ACharcot-Marie-Tooth disease, type 2BAD
RAC1Mental retardation, autosomal dominant 48AD
RAD21Cornelia de Lange syndrome 4AD
RAD50Nijmegen breakage syndrome-like disorderAR
RAF1Noonan syndrome 5AD
RAI1Smith-Magenis syndromeAD, IC
RALAHiatt-Neu-Cooper neurodevelopmental syndromeAD
RALGAPA1Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulationAR
RAPSNMyasthenic syndrome, congenitalAR
RARSLeukodystrophy, hypomyelinating 9AR
RARS1Leukodystrophy, hypomyelinating, 9AR
RARS2Pontocerebellar hypoplasia, type 6AR
RASA1Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Spinal arteriovenous anomaliesAD
RBBP8Seckel syndrome 2AR
RBCK1Polyglucosan body myopathyAR
RBM10TARP syndromeXLR
RBM8AThrombocytopenia-absent radius syndromeAR
RDH11?Retinal dystrophy, juvenile cataracts, and short stature syndromeAR
REEP1Spastic paraplegia, Distal hereditary motor neuronopathyAD
REEP2?Spastic paraplegia 72, autosomal recessiveAD, AR
RELNLissencephaly, Epilepsy, familial temporal lobeAD/AR
RERENeurodevelopmental disorder with or without anomalies of the brain, eye, or heartAD
RESTWilms tumor 6, susceptibility toAD
RETHirschsprung disease, susceptibility to, 1AD
RETREG1Neuropathy, hereditary sensory and autonomic, type IIBAR
RFT1Congenital disorder of glycosylation, type InAR
RHOBTB2Early infantile epileptic encephalopathyAD
RIMS1Cone-rod dystrophy 7AD
RIN2Macrocephaly, alopecia, cutis laxa, and scoliosisAR
RLIMMental retardation, X-linked 61XL
RMND1Combined oxidative phosphorylation deficiency 11AR
RNASEH1Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2AR
RNASEH2AAicardi-Goutières syndromeAR
RNASEH2BAicardi-Goutières syndromeAR
RNASEH2CAicardi-Goutières syndromeAR
RNASEH2CAicardi-Goutieres syndrome 3AR
RNASET2Leukoencephalopathy, cystic, without megalencephalyAR
RNF113ATrichothiodystrophy 5, nonphotosensitiveXL
RNF13Developmental and epileptic encephalopathy 73AD
RNF135Macrocephaly, macrosomia, facial dysmorphism syndromeAD
RNF168RIDDLE syndromeAR
RNF170Ataxia, sensory, 1, autosomal dominantAD
RNF216Cerebellar ataxia and hypogonadotropic hypogonadismAR
ROBO2Vesicoureteral reflux 2AD
ROBO3Gaze palsy, horizontal, with progressive scoliosisAR
ROGDIKohlschutter-Tonz syndromeAR
ROR2Brachydactyly, type B1AD
RORAAD
RORBEpilepsyAD
RPGRIP1LJoubert syndrome 7AR
RPIARibose 5-phosphate isomerase deficiencyAR
RPL10AutismXL
RPL10Autism, susceptibility to, X-linked 5-
RPL35ADiamond-Blackfan anemia 5AD
RPS14Macrocytic anemia, refractory, due to 5q deletion, somatic-
RPS6KA3Coffin-Lowry syndromeXLD
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR
RTN2Spastic paraplegia 12, autosomal dominantAD
RTN4IP1Optic atrophy 10 with or without ataxia, mental retardation, and seizuresAR
RTTNMicrocephaly, short stature, and polymicrogyria with seizuresAR
RUBCNSpinocerebellar ataxiaAR
RUSC2Mental retardation, autosomal recessive 61AR
RXYLT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10AR
RYR1Central core disease, Malignant hyperthermia, Minicore myopathy with external ophthalmoplegia, Centronuclear myopathy, Minicore myopathy, Multicore myopathyAD/AR
SACSSpastic ataxia, Charlevoix-SaguenayAR
SACSSpastic ataxia, Charlevoix-Saguenay typeAR
SALL1Townes-Brocks branchiootorenal-like syndromeAD
SALL4Acro-renal-ocular syndrome, Duane-radial ray/Okihiro syndromeAD
SAMD9LAtaxia-pancytopenia syndromeAD
SAMD9LAtaxia-pancytopenia syndromeAD
SAMHD1Aicardi-Goutières syndrome, Chilblain lupus 2AD/AR
SARS2Hyperuricemia, pulmonary hypertension, renal failure, and alkalosisAR
SASH1Dyschromatosis universalis hereditaria 1AD
SASS6?Microcephaly 14, primary, autosomal recessiveAR
SATB2Glass syndromeAD
SBDSAplastic anemia, susceptibility to-
SBF1Charcot-Marie-Tooth diseaseAR
SBF2Charcot-Marie-Tooth diseaseAR
SC5DLathosterolosisAR
SCARB2Epilepsy, progressive myoclonicAR
SCN10AEpisodic pain syndrome, familial, 2AD
SCN11AEpisodic pain syndrome, familial, 3, Neuropathy, hereditary sensory and autonomic, type VIIAD
SCN1AMigraine, familial hemiplegic, Epileptic encephalopathy, early infantile, Generalized epilepsy with febrile seizures plus, Early infantile epileptic encephalopathy 6, Generalized epilepsy with febrile seizures plus, type 2 , Febrile seizures, familial 3AAD
SCN1BAtrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus, Epilepsy, generalized, with febrile seizures plus, type 1, Epileptic encephalopathy, early infantile, 52AD
SCN2AEpileptic encephalopathy, early infantile, Seizures, benign familial infantileAD
SCN3AEpilepsy, Epileptic encephalopathyAD
SCN4AHyperkalemic periodic paralysis, Myotonia, potassium-aggravated, Paramyotonia congenita, Myasthenic syndrome, congenital, Normokalemic potassium-sensitive periodic paralysisAD/AR
SCN8ACognitive impairment, Epileptic encephalopathy, early infantileAD
SCN9AParoxysmal extreme pain disorder, Small fiber neuropathy, Erythermalgia, primary, Generalized epilepsy with febrile seizures plus, type 7, Insensitivity to pain, congenital, autosomal recessiveAD/AR
SCO1Mitochondrial complex IV deficiencyAR
SCO2Myopia 6AD
SCYL1Spinocerebellar ataxia, autosomal recessive 21AR
SDCCAG8Bardet-Biedl syndrome 16AR
SDHANeurodegeneration with ataxia and late-onset optic atrophyAD
SDHAF1Mitochondrial complex II deficiencyAR
SDHAF2Paragangliomas 2AD
SDHBPheochromocytomaAD
SDHDMitochondrial complex II deficiencyAR
SEC23BDyserythropoietic anemia, congenital, type IIAR
SECISBP2Thyroid hormone metabolism, abnormalAR
SELENOISpastic paraplegia 81, autosomal recessiveAR
SELENONMuscular dystrophy, rigid spine, 1AR
SEMA6BEpilepsy, progressive myoclonic, 11AD
SEPSECSPontocerebellar hypoplasia type 2DAR
SEPT9Amyotrophy, hereditary neuralgicAD
SERAC13-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeAR
SERPINI1Encephalopathy, familial, with neuroserpin inclusion bodiesAD
SETMental retardation, autosomal dominant 58AD
SETBP1Mental retardation, autosomal dominant 29, Schinzel-Giedion midface retraction syndromeAD
SETD1ANeurodevelopmental disorder with speech impairment and dysmorphic faciesAD
SETD1BIntellectual disability and seizuresAD
SETD2Luscan-Lumish syndromeAD
SETD5Mental retardation, autosomal dominant 23AD
SETXAtaxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile, Spinocerebellar ataxiaAD/AR
SF3B1Myelodysplastic syndrome, somatic-
SFXN4Combined oxidative phosphorylation deficiency 18AR
SGCAMuscular dystrophy, limb-girdleAR
SGCBMuscular dystrophy, limb-girdleAR
SGCDMuscular dystrophy, limb-girdle, Dilated cardiomyopathy (DCM)AR
SGCEDystonia-11, myoclonicAD
SGCGMuscular dystrophy, limb-girdleAR
SGSHMucopolysaccharidosis (Sanfilippo syndrome)AR
SH3TC2Mononeuropathy of the median nerve, Charcot-Marie-Tooth diseaseAR
SHANK2Autism susceptibility 17-
SHANK3Phelan-McDermid syndrome, Schizophrenia 15AD
SHHSchizencephaly-
SHOC2Noonan syndrome-like with loose anagen hair 1AD
SHROOM4Stocco dos Santos X-linked mental retardation syndromeXL
SIGMAR1Amyotrophic lateral sclerosis, Spinal muscular atrophy, distal, Frontotemporal lobar degeneration-motor neuron diseaseAR
SIK1Epileptic encephalopathy, early infantileAD
SIL1Marinesco-Sjogren syndromeAR
SIN3AWitteveen-Kolk syndromeAD
SIX3Holoprosencephaly 2AD
SKIShprintzen-Goldberg syndromeAD
SLC12A3Gitelman syndromeAR
SLC12A5Epileptic encephalopathy, early infantileAD/AR
SLC12A6Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)AD/AR
SLC13A3Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarateAR
SLC13A5Developmental and epileptic encephalopathy 25, with amelogenesis imperfectaAR
SLC16A1Hyperinsulinemic hypoglycemia, familial, 7AD
SLC16A2Allan-Herndon-Dudley syndromeXL
SLC17A5Sialuria, Finnish (Salla disease), Infantile sialic acid storage disorderAR
SLC18A3Myasthenic syndrome, congenital, 21, presynapticAR
SLC19A2Thiamine-responsive megaloblastic anemia syndromeAR
SLC19A3Thiamine metabolism dysfunction syndromeAR
SLC1A1?Schizophrenia susceptibility 18-
SLC1A2Epileptic encephalopathy, early infantile, 41
SLC1A3Episodic ataxiaAD
SLC1A4Spastic tetraplegia, thin corpus callosum, and progressive microcephalyAR
SLC20A2Basal ganglia calcification, idiopathic, 1AD
SLC22A5Carnitine deficiency, systemic primaryAR
SLC25A1Combined D-2- and L-2-hydroxyglutaric aciduriaAR
SLC25A12Developmental and epileptic encephalopathy 39AR
SLC25A13Citrullinemia, type II, neonatal-onsetAR
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndromeAR
SLC25A19Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)AR
SLC25A20Carnitine-acylcarnitine translocase deficiencyAR
SLC25A22Epileptic encephalopathy, early infantileAR
SLC25A26Combined oxidative phosphorylation deficiency 28AR
SLC25A3Mitochondrial phosphate carrier deficiencyAR
SLC25A38Anemia, sideroblastic, 2, pyridoxine-refractoryAR
SLC25A4Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) ARAR
SLC25A42AR
SLC25A46Neuropathy, hereditary motor and sensory, type VIBAR
SLC27A4Ichthyosis prematurity syndromeAR
SLC2A1Stomatin-deficient cryohydrocytosis with neurologic defects, Epilepsy, idiopathic generalized, GLUT1 deficiency syndromeAD/AR
SLC2A10Arterial tortuosity syndromeAR
SLC30A10Hypermanganesemia with dystonia 1AR
SLC33A1Congenital cataracts, hearing loss, and neurodegenerationAR
SLC35A1Congenital disorder of glycosylationAR
SLC35A2Congenital disorder of glycosylationXL
SLC35A3?Arthrogryposis, mental retardation, and seizuresAR
SLC35C1Congenital disorder of glycosylation, type IIcAR
SLC38A8Foveal hypoplasia 2AR
SLC39A14?Hyperostosis cranalis internaAD
SLC39A8Congenital disorder of glycosylation, type IInAR
SLC3A1CystinuriaAD, AR
SLC46A1Folate malabsorptionAR
SLC4A4Renal tubular acidosis, proximal, with ocular abnormalitiesAR
SLC52A2Brown-Vialetto-Van Laere syndromeAR
SLC52A3Fazio-Londe disease, Brown-Vialetto-Van Laere syndromeAR
SLC5A7Neuronopathy, distal hereditary motor, type VIIAAD
SLC6A1Myoclonic-astastic epilepsyAD
SLC6A17Mental retardation, autosomal recessive 48AR
SLC6A19Iminoglycinuria, digenicAR, DR
SLC6A3Nicotine dependence, protection against-
SLC6A4Obsessive-compulsive disorderAD
SLC6A5HyperekplexiaAD/AR
SLC6A8Cerebral creatine deficiency syndrome 1XLR
SLC6A9Glycine encephalopathy with normal serum glycineAR
SLC7A7Lysinuric protein intoleranceAR
SLC9A1Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome)AR
SLC9A6Mental retardation, syndromic, ChristiansonXL
SLC9A9?Autism susceptibility 16-
SLCO1B3Hyperbilirubinemia, Rotor type, digenicDR
SMAD3Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndromeAD
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndromeAD
SMARCA2Blepharophimosis-impaired intellectual development syndromeAD
SMARCA4Coffin-Siris syndrome 4AD
SMARCB1Coffin-Siris syndrome 3AD
SMARCC2Coffin-Siris syndrome 8AD
SMARCE1Coffin-Siris syndrome 5AD
SMC1ACornelia de Lange syndromeXL
SMC1ADevelopmental and epileptic encephalopathy 85, with or without midline brain defectsXLD
SMC3Cornelia de Lange syndrome 3AD
SMCHD1Facioscapulohumeral muscular dystrophy, Facioscapulohumeral muscular dystrophy, type 2AD
SMCHD1Bosma arhinia microphthalmia syndromeAD
SMPD1Niemann-Pick disease, type AAR
SMPD4Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomaliesAR
SMSMental retardation, Snyder-RobinsonXL
SNAI2Waardenburg syndrome, type 2DAR
SNAP25Myasthenic syndrome, congenitalAD
SNAP29Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeAR
SNCAParkinson disease, Dementia with Lewy bodiesAD
SNCBDementia, Lewy bodyAD
SNIP1Psychomotor retardation, epilepsy, and craniofacial dysmorphismAR
SNORD118Leukoencephalopathy, brain calcifications, and cysts (Labrune syndrome)AR
SNTA1Long QT syndrome 12AD
SNX10Osteopetrosis, autosomal recessive 8AR
SNX14Spinocerebellar ataxiaAR
SOBPMental retardation, anterior maxillary protrusion, and strabismusAR
SOD1Amyotrophic lateral sclerosis, KeratoconusAD/AR
SOD2Microvascular complications of diabetes 6-
SONZTTK syndromeAD
SORL1Early-onset Alzheimer diseaseAD
SOS1Noonan syndrome 4AD
SOX10Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease, Kallmann syndromeAD
SOX11Coffin-Siris syndrome 9AD
SOX2Microphthalmia, syndromic 3AD
SOX3Panhypopituitarism, X-linkedXL
SOX5Lamb-Shaffer syndromeAD
SPARTTroyer syndromeAR
SPASTSpastic paraplegiaAD
SPATA5Developmental delay with or without dysmorphic facies and autism, Epilepsy, hearing loss, and mental retardation syndrome (EHLMRS)AR
SPEGCentronuclear myopathy 5AR
SPG11Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth diseaseAR
SPG20Spastic paraplegia (Troyer syndrome)AR
SPG21Mast syndromeAR
SPG7Spastic paraplegiaAR
SPRDystonia, Dopa-responsive, due to sepiapterin reductase deficiencyAR
SPTAN1Epileptic encephalopathy, early infantileAD
SPTBN2Spinocerebellar ataxiaAD/AR
SPTBN4Myopathy, congenital, with neuropathy and deafnessAR
SPTLC1Neuropathy, hereditary sensory and autonomic, type IAAD
SPTLC2Hereditary sensory and autonomic neuropathyAD
SQSTM1Paget disease of bone, Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Myopathy, distal, with rimmed vacuoles, Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetAD/AR
SRCAPDevelopmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalitiesAD
SRD5A3Congenital disorder of glycosylation, type IqAR
SRPX2?Rolandic epilepsy, impaired intellectual development, and speech dyspraxiaXL
SSR4Congenital disorder of glycosylationXL
ST3GAL3Epileptic encephalopathy, early infantile, Intellectual developmental disorderAR
ST3GAL5Ganglioside GM3 synthase deficiencyAR
STAC3Native American myopathy
STAG1Mental retardation, autosomal dominant 47AD
STAG2Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderXL
STAMBPMicrocephaly-capillary malformation syndromeAR
STARLipoid adrenal hyperplasiaAR
STAT1Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominantAD
STAT2Pseudo-TORCH syndrome 3AR
STILMicrocephaly 7, primary, autosomal recessiveAR
STIM1Stormorken syndrome, Immunodeficiency, Myopathy, tubular aggregate 1AD/AR
STRA6Microphthalmia, isolated, with coloboma 8AR
STRADAPolyhydramnios, megalencephaly, and symptomatic epilepsyAR
STT3ACongenital disorder of glycosylation, type Iw, autosomal dominantAD
STUB1Spinocerebellar ataxiaAD/AR
STX1BGeneralized epilepsy with febrile seizures plusAD
STX1BGeneralized epilepsy with febrile seizures plus, type 9AD
STXBP1Epileptic encephalopathy, early infantileAD
SUCLA2Mitochondrial DNA depletion syndromeAR
SUCLG1Mitochondrial DNA depletion syndromeAR
SUGCTGlutaric aciduria IIIAR
SUMF1Multiple sulfatase deficiencyAR
SUOXSulfocysteinuriaAR
SURF1Leigh syndrome, Charcot-Marie-Tooth diseaseAR
SYN1Epilepsy, with variable learning disabilities and behavior disordersXL
SYN2Schizophrenia, susceptibility toAD
SYNE1Spinocerebellar ataxia, autosomal recessive 8AD/AR
SYNE2Emery-Dreifuss muscular dystrophy 5, autosomal dominantAD
SYNGAP1Intellectual developmental disorderAD
SYNJ1Developmental and epileptic encephalopathy 53AR
SYPIntellectual developmental disorderXL
SYT14Spinocerebellar ataxiaAR
SYT2Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessiveAR
SZT2Epileptic encephalopathy, early infantileAR
TACO1Mitochondrial complex IV deficiency, nuclear type 8AR
TAF1Dystonia 3, torsion, X-linked, Mental retardation, X-linked, syndromic 33XL
TAF13Mental retardation, autosomal recessive 60AR
TAF15Chondrosarcoma, extraskeletal myxoid-
TAF2Mental retardation, autosomal recessive 40AR
TAF6Alazami-Yuan syndromeAR
TANGO2Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN)AR
TAOK1Developmental delay with or without intellectual impairment or behavioral abnormalitiesAD
TARDBPFrontotemporal lobar degeneration, TARDBP-relatedAD
TARS2?Combined oxidative phosphorylation deficiency 21AR
TBC1D23Pontocerebellar hypoplasia, type 11AR
TBC1D24Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome, Deafness, autosomal dominant, 65, Myoclonic epilepsy, infantile, familial, Epileptic encephalopathy, early infantile, 16, Deafness, autosomal recessive 86AD/AR
TBCDEarly-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT)AR
TBCEProgressive encephalopathy with amyotrophy and optic atrophy (PEAMO)AR
TBCKHypotonia, infantile, with psychomotor retardation and characteristic facies 3AR
TBK1Frontotemporal dementia and/or amyotrophic lateral sclerosis 4AD
TBL1XR1Pierpont syndromeAD
TBR1Intellectual developmental disorder with autism and speech delayAD
TBX3Ulnar-mammary syndromeAD
TCAPMuscular dystrophy, limb-girdle, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM)AD/AR
TCF20Developmental delay and seizures with or without movement abnormalities (DEDSM)AD
TCF4Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndromeAD
TCIRG1Osteopetrosis, autosomal recessive 1AR
TCOF1Treacher Collins syndrome 1AD
TCTN1Joubert syndrome 13AR
TCTN2Joubert syndrome, Meckel syndromeAR
TCTN3Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndromeAR
TDP1Spinocerebellar ataxia, with axonal neuropathyAR
TDP2Spinocerebellar ataxia, autosomal recessive 23
TECPR2Spastic paraplegia 49, autosomal recessiveAR
TECRMental retardation, autosomal recessive 14AR
TECTADeafness, autosomal dominant 8/12AD
TENM4Essential tremor, hereditary, 5AD
TET2Myelodysplastic syndrome, somatic-
TFAP2ABranchiooculofacial syndromeAD
TFGSpastic paraplegia, Hereditary motor and sensory neuropathy, proximalAR
TFR2Hemochromatosis, type 3AR
TGThyroid dyshormonogenesis 3AR
TGFB1Camurati-Engelmann diseaseAD
TGFB3Loeys-Dietz syndrome 5AD
TGIF1Holoprosencephaly 4AD
TGM6Spinocerebellar ataxiaAD
THSegawa syndrome, autosomal recessiveAR
THAP1Dystonia 6, torsionAD
THOC2Mental retardation, X-linked 12, Arthrogryposis multiplex congenitaXL
THOC6MicrocephalyAR
THRAHypothyroidism, congenital, nongoitrous, 6AD
THRBThyroid hormone resistance, autosomal recessiveAR
TIA1Welander distal myopathyAD
TIMM503-methylglutaconic aciduria, type IXAR
TIMM8AMohr-Tranebjaerg syndromeXLR
TIMMDC1Mitochondrial complex I deficiency, nuclear type 31AR
TINF2Revesz syndromeAD
TK2Mitochondrial DNA depletion syndrome 2 (myopathic type)AR
TLK2Mental retardation, autosomal dominant 57AD
TMCO1Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeAR
TMEM106BLeukodystrophy, hypomyelinating, 16AD
TMEM126AOptic atrophyAR
TMEM126BMitochondrial complex I deficiencyAR
TMEM138Joubert syndromeAR
TMEM165Congenital disorder of glycosylation, type IIkAR
TMEM199Congenital disorder of glycosylation, type IIpAR
TMEM216Joubert syndrome, Meckel syndromeAR
TMEM231Joubert syndrome, Meckel syndromeAR
TMEM237Joubert syndromeAR
TMEM240Spinocerebellar ataxiaAD
TMEM43Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophyAD
TMEM5Muscular dystrophy-dystroglycanopathyAR
TMEM67Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndromeAR
TMEM70Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2AR
TMEM94Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH)AR
TMLHEAutism, susceptibility to, X-linked 6XLR
TMTC3Lissencephaly 8AR
TMX2Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticityAR
TNIKMental retardation, autosomal recessive 54AR
TNNI2Arthrogryposis, distal, type 2B1AD
TNNT1Nemaline myopathyAR
TNNT3Arthrogryposis, distal, type 2B2AD
TNPO3Muscular dystrophy, limb-girdleAD
TOE1Pontocerebellar hypoplasia, type 7AR
TOP3AMicrocephaly, growth restriction, and increased sister chromatid exchange 2AR
TOR1ADystonia 1, torsionAD
TOR1AIP1Muscular dystrophy with progressive weakness, distal contractures and rigid spineAD/AR
TPI1Hemolytic anemia due to triosephosphate isomerase deficiencyAR
TPK1Thiamine metabolism dysfunction syndrome 5AR
TPM2CAP myopathy, Nemaline myopathy, Arthrogryposis, distalAD
TPM3Myopathy, congenital, with fiber-type disproportionAD, AR
TPOThyroid dyshormonogenesis 2AAR
TPP1Spinocerebellar ataxia, Neuronal ceroid lipofuscinosis type 2AR
TPP1Ceroid lipofuscinosis, neuronal, 2AR
TRAF3IP1Senior-Loken syndrome 9AR
TRAF7Cardiac, facial, and digital anomalies with developmental delayAD
TRAK1Epileptic encephalopathyAR
TRAPPC11Limb-girdle muscular dystrophyAR
TRAPPC4Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyAR
TRAPPC9Mental retardation, autosomal recessive 13AR
TREM2Nasu-Hakola disease, Early-onset dementia without bone cysts, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathyAR
TREX1Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Aicardi-Goutières syndromeAD/AR
TRIM2Charcot-Marie-Tooth diseaseAR
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdleAR
TRIM8Epileptic encephalopathyAD
TRIOIntellectual developmental disorder, autosomal dominant 44, with microcephalyAD
TRIP12Intellectual developmental disorderAD
TRIP4Spinal muscular atrophy with congenital bone fractures 1AR
TRIT1Combined oxidative phosphorylation deficiency 35
TRMT10AMicrocephaly, short stature, and impaired glucose metabolism 1AR
TRMT10CCombined oxidative phosphorylation deficiency 30AR
TRMT5Combined oxidative phosphorylation deficiency 26AR
TRMULiver failure, transient infantileAR
TRNT1Retinitis pigmentosa and erythrocytic microcytosisAR
TRPC6Glomerulosclerosis, focal segmental, 2AD
TRPM1Night blindness, congenital stationary (complete), 1C, autosomal recessive-
TRPM6Hypomagnesemia 1, intestinalAR
TRPS1Trichorhinophalangeal syndrome, type IAD
TRPV4Metatropic dysplasia, Spondyloepiphyseal dysplasia Maroteaux type, Parastremmatic dwarfism, Hereditary motor and sensory neuropathy, Spondylometaphyseal dysplasia Kozlowski type, Spinal muscular atrophy, Charcot-Marie-Tooth disease, Brachyolmia (autosomal dominant type), Familial Digital arthropathy with brachydactylyAD
TRRAPDevelopmental delay with or without dysmorphic facies and autismAD
TSC1Lymphangioleiomyomatosis, Tuberous sclerosisAD
TSC2Lymphangioleiomyomatosis, Tuberous sclerosisAD
TSEN15Pontocerebellar hypoplasia, type 2FAR
TSEN2Pontocerebellar hypoplasia type 2BAR
TSEN34?Pontocerebellar hypoplasia type 2CAR
TSEN54Pontocerebellar hypoplasia type 2AAR
TSFMCombined oxidative phosphorylation deficiency 3AR
TSHBHypothyroidism, congenital, nongoitrous 4AR
TSHRHyperthyroidism, nonautoimmuneAD
TSPAN7Mental retardation, X-linked 58XLR
TTBK2Spinocerebellar ataxiaAD
TTC19Mitochondrial complex III deficiency, nuclear type 2AR
TTC21BShort-rib thoracic dysplasia 4 with or without polydactylyAR
TTC8Bardet-Biedl syndrome, Retinitis pigmentosaAR
TTI2Mental retardation, autosomal recessive 39AR
TTNCardiomyopathy, dilated, 1G-
TTPAAtaxia with isolated vitamin E deficiencyAR
TTRDystransthyretinemic hyperthyroxinemia, Amyloidosis, hereditary, transthyretin-relatedAD
TUBA1ALissencephaly 3AD
TUBA4AAmyotrophic lateral sclerosis 22 with or without frontotemporal dementiaAD
TUBA8Polymicrogyria with optic nerve hypoplasiaAR
TUBB2ACortical dysplasia, complex, with other brain malformations 5AD
TUBB2BCortical dysplasia, complex, with other brain malformations 7AD
TUBB3Cortical dysplasia, complex, with other brain malformations 1AD
TUBB4ADystonia 4, torsion, autosomal dominantAD
TUBG1Cortical dysplasia, complex, with other brain malformations 4AD
TUBGCP4Microcephaly and chorioretinopathy, autosomal recessive, 3AR
TUBGCP6Microcephaly and chorioretinopathy, autosomal recessive, 1AR
TUFMCombined oxidative phosphorylation deficiency 4AR
TUSC3Mental retardation, autosomal recessive 7AR
TWIST1Craniosynostosis 1AD
TWNKProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3AD
TYMPMitochondrial DNA depletion syndromeAR
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type)AR
TYR[Skin/hair/eye pigmentation 3, light/dark/freckling skin]AD
TYROBPPolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1AR
UBA1Spinal muscular atrophy, infantileXL
UBA5Developmental and epileptic encephalopathy 44AR
UBAP1Spastic paraplegia 80, autosomal dominantAD
UBE2AMental retardation, syndromic, NascimentoXL
UBE3AAngelman syndromeAD
UBE3BKaufman oculocerebrofacial syndromeAR
UBQLN2Amyotrophic lateral sclerosisXL
UBR1Johanson-Blizzard syndromeAR
UBTFNeurodegeneration, childhood-onset, with brain atrophyAD
UCHL1Parkinson disease 5, autosomal dominant, Spastic paraplegia 79, autosomal recessiveAD/AR
UFM1Leukodystrophy, hypomyelinating, 14AR
UGP2Developmental and epileptic encephalopathy 83AR
UMPSOrotic aciduriaAR
UNC80Hypotonia, infantile, with psychomotor retardation and characteristic facies 2AR
UNGImmunodeficiency with hyper IgM, type 5AR
UPB1Beta-ureidopropionase deficiencyAR
UPF3BMental retardation, syndromicXL
UQCC2Mitochondrial complex III deficiency, nuclear type 7AR
UQCRBMitochondrial complex III deficiency, nuclear type 3AR
UQCRC2Mitochondrial complex III deficiency, nuclear type 5AR
UQCRQMitochondrial complex III deficiency, nuclear type 4AR
UROC1?Urocanase deficiencyAR
URODPorphyria cutanea tarda, Porphyria, hepatoerythropoieticAD/AR
UROSPorphyria, congenital erythropoieticAR
USH2AUsher syndrome, type 2AAR
USP8Pituitary adenoma 4, ACTH-secreting, somatic-
USP9XMental retardation, X-linked 99, Mental retardation, X-linked 99, syndromic, female restrictedXL
USP9YSpermatogenic failure, Y-linked, 2XL
VAC14Striatonigral degeneration, childhood-onset
VAMP1Spastic ataxiaAD
VAMP2AD
VANGL1Caudal regression syndromeAD
VAPBAmyotrophic lateral sclerosis, Spinal muscular atrophy, late-onset, FinkelAD
VARSEarly-onset progressive encephalopathy with brain atrophy and thin corpus callosum (PEBAT), Encephalopathy, progressiveAR
VARS1Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophyAR
VARS2Combined oxidative phosphorylation deficiency 20AR
VCPAmyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth diseaseAD
VDRRickets, vitamin D-resistant, type IIAAR
VHLPheochromocytomaAD
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2AR
VLDLRCerebellar ataxia, mental retardation, and dysequilibrium syndromeAR
VMA21Myopathy, X-linked, with excessive autophagyXL
VPS11Leukodystrophy, hypomyelinating, 12AR
VPS13AChoreoacanthocytosisAR
VPS13BCohen syndromeAR
VPS13CParkinson disease 23, autosomal recessive, early onsetAR
VPS13DSpinocerebellar ataxiaAR
VPS33BArthrogryposis, renal dysfunction, and cholestasis 1AR
VPS35Parkinson disease 17AD
VPS37ASpastic paraplegia 53, autosomal recessiveAR
VPS53Pontocerebellar hypoplasia, type 2EAR
VRK1Pontocerebellar hypoplasia type 1AAR
VWA3BSpinocerebellar ataxia, autosomal recessive 22
WACDesanto-Shinawi syndromeAD
WARS2Encephalopathy, mitochondrialAR
WASF1Intellectual disability and seizuresAD
WASHC4?Mental retardation, autosomal recessive 43AR
WASHC5Spastic paraplegia 8, autosomal dominantAD
WDFY3?Microcephaly 18, primary, autosomal dominantAD
WDPCPMeckel-Gruber syndrome, modifier, Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactylyAR
WDR26Skraban-Deardorff syndromeAD
WDR37Neurooculocardiogenitourinary syndromeAD
WDR45Neurodegeneration with brain iron accumulationXL
WDR45BNeurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizuresAR
WDR62Microcephaly 2, primary, autosomal recessive, with or without cortical malformationsAR
WDR73Galloway-Mowat syndrome 1AR
WDR81Dysequilibrium syndromeAR
WFS1Wolfram syndrome, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41AD/AR
WNK1Neuropathy, hereditary sensory and autonomic, PseudohypoaldosteronismAD/AR
WNT1Osteogenesis imperfecta, type XVAR
WNT5ARobinow syndrome, autosomal dominant 1AD
WNT7AFuhrmann syndromeAR
WWOXEsophageal squamous cell carcinoma, somatic-
XKMcLeod syndrome with or without chronic granulomatous diseaseXL
XPNPEP3Nephronophthisis-like nephropathy 1AR
XPR1Basal ganglia calcification, idiopathic, 6AD
XRCC1Spinocerebellar ataxia, autosomal recessive, 26
XRCC4Short stature, microcephaly, and endocrine dysfunctionAR
YAP1Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardationAD
YARSCharcot-Marie-Tooth diseaseAD
YARS1Charcot-Marie-Tooth disease, dominant intermediate CAD
YARS2Myopathy, lactic acidosis, and sideroblastic anemia 2AR
YME1L1Optic atrophy 11
YWHAEDistal 17p13.3 microdeletion syndrome, Endometrial stromal sarcoma, 17p13.3 microduplication syndrome, Miller-Dieker syndromeAD/AR
YWHAGEpileptic encephalopathy, early infantile, 56
YY1Gabriele-de Vries syndrome (GADEVS)AD
ZBTB16Skeletal defects, genital hypoplasia, and mental retardationAR
ZBTB18Mental retardation, autosomal dominant 22AD
ZBTB20Primrose syndromeAD
ZBTB24Immunodeficiency-centromeric instability-facial anomalies syndrome 2AR
ZC3H14Mental retardation, autosomal recessive 56AR
ZC4H2Wieacker-Wolff syndromeXL
ZCCHC12Intellectual developmental disorderXL
ZDHHC9Mental retardation, X-linked syndromic, Raymond typeXL
ZEB2Mowat-Wilson syndromeAD
ZFYVE26Spastic paraplegia 15, autosomal recessiveAR
ZFYVE27Spastic paraplegia 33, autosomal dominantAD
ZIC1Structural brain anomalies with impaired intellectual development and craniosynostosisAD
ZIC2Holoprosencephaly 5AD
ZIC3VACTERL association, X-linkedXLR
ZMYND11Mental retardation, autosomal dominant 30AD
ZNF142Neurodevelopmental disorder with impaired speech and hyperkinetic movementsAR
ZNF148Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies (GDACCF)
ZNF292Intellectual developmental disorder, autosomal dominant 64AD
ZNF335Microcephaly 10, primary, autosomal recessiveAR
ZNF41Intellectual developmental disorderXL
ZNF423Joubert syndrome 19AD, AR
ZNF674Intellectual developmental disorderXL
ZNF699DEGCAGS syndromeAR
ZNF711Intellectual developmental disorderXL
ZNF81Intellectual developmental disorderXL
ZNHIT3PEHO syndrome
ZSWIM6Acromelic frontonasal dysostosisAD