GeneAssociated phenotypesInheritanceClinVarHGMD
ALS2Amyotrophic lateral sclerosis, Spastic paralysisAR3368
ANGAmyotrophic lateral sclerosisAD837
ATL1Spastic paraplegia, Neuropathy, hereditary sensoryAD2984
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 17AR3450
CHCHD10Myopathy, isolated mitochondrial, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela typeAD426
CHMP2BAmyotrophic lateral sclerosis, CHMP2B-related, Frontotemporal dementiaAD621
DCTN1Perry syndrome, Neuropathy, distal hereditary motorAD1052
FIG4Amyotrophic lateral sclerosis, Polymicrogyria, bilateral occipital, Yunis-Varon syndrome, Charcot-Marie-Tooth diseaseAD/AR3469
FUSAmyotrophic lateral sclerosis, Essential tremorAD/AR22111
GBE1Glycogen storage diseaseAR3670
GRNFrontotemporal lobar degeneration with TDP43 inclusions, GRN-related, Neuronal ceroid lipofuscinosisAD/AR43214
HEXATay-Sachs disease, GM2-gangliosidosis, Hexosaminidase A deficiencyAR128194
HNRNPA1*Amyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget diseaseAD2011
HSPD1*Spastic paraplegia, Leukodystrophy, hypomyelinatingAD/AR55
KIAA0196Spastic paraplegia, Ritscher-Schinzel syndrome (3C syndrome)AD/AR1518
KIF5ASpastic paraplegiaAD1862
MATR3*Amyotrophic lateral sclerosis 21AD416
OPTNGlaucoma, open angle, Glaucoma, normal tension, Amyotrophic lateral sclerosis 12AD1361
PFN1Amyotrophic lateral sclerosis 18AD58
PRF1Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosisAR24183
REEP1Spastic paraplegia, Distal hereditary motor neuronopathyAD1660
SETXAtaxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile, Spinocerebellar ataxiaAD/AR36210
SLC52A2Brown-Vialetto-Van Laere syndromeAR2725
SLC52A3Fazio-Londe disease, Brown-Vialetto-Van Laere syndromeAR3042
SOD1Amyotrophic lateral sclerosis, KeratoconusAD/AR40215
SPASTSpastic paraplegiaAD193723
SPG11Spastic paraplegia, Amyotrophic lateral sclerosis, Charcot-Marie-Tooth diseaseAR162274
SPG20Spastic paraplegia (Troyer syndrome)AR97
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/AR1097
TARDBP*Amyotrophic lateral sclerosisAD2069
TIA1Welander distal myopathyAD113
TUBA4AAmyotrophic lateral sclerosis 22AD613
UBQLN2Amyotrophic lateral sclerosisXL531
VAPBAmyotrophic lateral sclerosis, Spinal muscular atrophy, late-onset, FinkelAD29
VCPAmyotrophic lateral sclerosis, Inclusion body myopathy with early-onset Paget disease, Charcot-Marie-Tooth diseaseAD1761
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCB7Anemia, sideroblastic, and spinocerebellar ataxiaXL89
ABHD12Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractAR1620
ACO2Optic atrophy, Infantile cerebellar-retinal degenerationAR1615
ADCK3Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxiaAR4543
ADPRHL2Neurodegeneration, childhood-onset, with brain atrophyAR1
AFG3L2*Spastic ataxia, Spinocerebellar ataxiaAD/AR2240
AGTPBP1NeuropathyAR31
AHI1Joubert syndromeAR6293
ALDH5A1Succinic semialdehyde dehydrogenase deficiencyAR1670
ANO10Spinocerebellar ataxiaAR1918
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAR1446
ARL13BJoubert syndromeAR1110
ARL6Bardet-Biedl syndrome, Retinitis pigmentosaAR1421
ATCAYAtaxia, cerebellar, CaymanAR13
ATMBreast cancer, Ataxia-TelangiectasiaAD/AR10471109
ATP1A3Alternating hemiplegia of childhood, Dystonia 12AD79112
ATP2B3Spinocerebellar ataxia, X-linked 1XL67
ATP8A2Dysequilibrium syndromeAR911
BBS1Bardet-Biedl syndromeAR66103
BBS10Bardet-Biedl syndromeAR90107
BBS12Bardet-Biedl syndromeAR3658
BBS2Bardet-Biedl syndrome, Retinitis pigmentosaAR5891
BBS4Bardet-Biedl syndromeAR2553
BBS5Bardet-Biedl syndromeAR1831
BBS7Bardet-Biedl syndromeAR1943
BBS9Bardet-Biedl syndromeAR2752
BEAN1#Spinocerebellar ataxiaAD12
C10ORF2Perrault syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3AR3780
C12ORF4Autism spectrum disorder, Developmental delay with variable intellectual impairment and behavioral abnormalitiesAR15
C5ORF42Orofaciodigital syndrome, Joubert syndromeAR97103
CA8Cerebellar ataxia, mental retardation, and dysequilibrium syndromeAR44
CACNA1AMigraine, familial hemiplegic, Episodic ataxia, Spinocerebellar ataxia 6, Epileptic encephalopathy, early infantile, 42AD135230
CACNA1GSpinocerebellar ataxia 42811
CACNB4Episodic ataxia, Epilepsy, idiopathic generalized, susceptibility to, 9AD27
CAMTA1Cerebellar ataxia, nonprogressive, with mental retardationAD388
CAPN1Spastic paraplegia 76, autosomal recessiveAR616
CASKMental retardation and microcephaly with pontine and cerebellar hypoplasia, FG syndrome, Mental retardationXL87112
CC2D2A#COACH syndrome, Joubert syndrome, Meckel syndromeAR7691
CCDC88CSpinocerebellar ataxiaAD610
CEP290*Bardet-Biedl syndrome, Leber congenital amaurosis, Joubert syndrome, Senior-Loken syndrome, Meckel syndromeAR130289
CEP41Joubert syndromeAR/Digenic711
CLCN2Leukoencephalopathy with ataxia, EpilepsyAD/AR3036
CLN5Neuronal ceroid lipofuscinosis, type 5AR6247
CLPPDeafnessAR413
COA7Spinocerebellar ataxia, Charcot-Marie-Tooth diseaseAR27
COASYNeurodegeneration with brain iron accumulation 6AR33
COX20Mitochondrial complex IV deficiencyAR41
CP*Aceruloplasminemia, HypoceruloplasminemiaAR6257
CSTBEpilepsy, progressive myoclonicAR1915
CWF19L1Spinocerebellar ataxiaAR94
CYP27A1Cerebrotendinous xanthomatosisAR69110
CYP2U1Spastic paraplegia 56, autosomal recessiveAR1419
DHPS#AR
DNAJC193-methylglutaconic aciduriaAR36
DNMT1Neuropathy, hereditary sensory, Cerebellar ataxia, deafness, and narcolepsyAD920
DOCK3AtaxiaAR35
EBF3Hypotonia, ataxia, and delayed development syndrome (HADDS)AD3226
EEF2Spinocerebellar ataxiaAD12
ELOVL4Stargardt disease, Icthyosis, spastic quadriplegia, and mental retardation, Spinocerebellar ataxiaAD/AR1314
ELOVL5Spinocerebellar ataxiaAD25
FA2HSpastic paraplegiaAR1851
FBXL4Mitochondrial DNA depletion syndromeAR5547
FDXRAuditory neuropathy and optic atrophyAR519
FGF14Spinocerebellar ataxiaAD910
FLVCR1Ataxia, posterior column, with retinitis pigmentosaAR915
FMR1Premature ovarian failure, Fragile X syndrome, Fragile X tremor/ataxia syndromeXL1376
FXN*Friedreich ataxiaAR1363
GBA2Cerebellar ataxia with spasticityAR1122
GFAPAlexander diseaseAD114131
GOSR2*Epilepsy, progessive myoclonicAR64
GRID2Spinocerebellar ataxiaAR1120
GRM1Spinocerebellar ataxiaAD/AR517
GSSGlutathione synthetase deficiencyAR838
HARS2Perrault syndromeAR73
HIBCH3-hydroxyisobutryl-CoA hydrolase deficiencyAR1816
INPP5EJoubert syndrome, Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)AR2550
IRF2BPLNeurodevelopmental disorder with hypotonia, seizures, and absent languageAD92
ITM2BDementia, familial Danish, Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities, Cerebral amyloid angiopathyAD36
ITPR1Spinocerebellar ataxiaAD3589
KCNA1Episodic ataxia/myokymia syndromeAD2445
KCNC3Spinocerebellar ataxiaAD711
KCND3Brugada syndrome, Spinocerebellar ataxia 19, Spinocerebellar ataxia 22AD729
KCNJ10Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAME syndrome), Pendred syndrome, Enlarged vestibular aqueductAR/Digenic1329
KIF1C*Spastic ataxiaAR717
KIF7Acrocallosal syndrome, Hydrolethalus syndrome, Al-Gazali-Bakalinova syndrome, Joubert syndromeAR/Digenic2444
LAMA1Poretti-Boltshauser syndromeAR3240
LARS2Perrault syndrome, Hydrops, lactic acidosis, and sideroblastic anemia (HLASA)AR1414
LMNB1Leukodystrophy, demyelinating, adult-onset, autosomal dominantAD235
LRPPRCLeigh syndrome, French-Canadian typeAR5517
MARS2Combined oxidative phosphorylation deficiencyAR85
MECRDystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (DYTOABG)AR76
MKKSBardet-Biedl syndrome, McKusick-Kaufman syndromeAR2159
MKS1Bardet-Biedl syndrome, Meckel syndromeAR5052
MMESpinocerebellar ataxia 43, Charcot-Marie-Tooth disease, axonal, type 2TAD/AR1421
MRE11AAtaxia-telangiectasia-like disorder-1AR5756
MSTO1#*Myopathy, mitochondrial, and ataxiaAR78
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
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 toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
MTFMTCombined oxidative phosphorylation deficiency 15AR1516
MTPAPSpastic ataxiaAR12
MTTPAbetalipoproteinemiaAR1269
NDUFAF6Mitochondrial complex I deficiency, Leigh syndromeAR1810
NDUFS2Mitochondrial complex I deficiencyAR524
NDUFS4Mitochondrial complex I deficiency, Leigh syndromeAR1117
NDUFS7Mitochondrial complex I deficiency, Leigh syndromeAR57
NDUFS8Mitochondrial complex I deficiency, Leigh syndromeAR1312
NDUFV1Mitochondrial complex I deficiencyAR1935
NKX6-2Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophyAR48
NOL3Myoclonus, familial corticalAD13
NPHP1Nephronophthisis, Joubert syndrome, Senior-Loken syndromeAR1976
NUBPLMitochondrial complex I deficiencyAR910
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL153160
OPA1Optic atrophy, Optic atrophy 1, Optic atrophy with or without deafness, Ophthalmoplegia, myopathy, ataxia, and neuropathy, Behr synrome, Mitochondrial DNA depletion syndrome 14AD/AR96390
OPHN1Mental retardation, with cerebellar hypoplasia and distinctive facial appearanceXL2842
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 anomalyAD144550
PDYNSpinocerebellar ataxiaAD411
PEX7Refsum disease, Rhizomelic CDP type 1AR4453
PHYHRefsum diseaseAR1236
PNKDParoxysmal non-kinesigenic dyskinesiaAD55
PNKPEpileptic encephalopathy, early infantile, Ataxia-oculomotorAR3423
PNPLA6Laurence-Moon syndrome, Boucher-Neuhauser syndrome, Spastic paraplegia 39AR2658
POLGPOLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR89290
PRKCGSpinocerebellar ataxiaAD/AR2847
PRRT2Episodic kinesigenic dyskinesia, Seizures, benign familial infantile, 2, Convulsions, familial infantile, with paroxysmal choreoathetosisAD4299
PUM1AtaxiaAD311
RNF216*Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon Holmes syndrome)AR1014
RPGRIP1L#COACH syndrome, Joubert syndrome, Meckel syndrome, Retinal degeneration in ciliopathy, modifierAR3949
RUBCNSpinocerebellar ataxiaAR44
SACSSpastic ataxia, Charlevoix-SaguenayAR254262
SCYL1Spinocerebellar ataxia, autosomal recessive 21AR126
SERAC13-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndromeAR2252
SETXAtaxia with oculomotor apraxia, Amyotrophic lateral sclerosis, juvenile, Spinocerebellar ataxiaAD/AR36210
SIL1Marinesco-Sjogren syndromeAR1449
SLC1A3Episodic ataxiaAD217
SLC20A2Basal ganglia calcification, idiopathic, 1AD2271
SLC25A46Neuropathy, hereditary motor and sensory, type VIBAR1417
SLC2A1Stomatin-deficient cryohydrocytosis with neurologic defects, Epilepsy, idiopathic generalized, GLUT1 deficiency syndromeAD/AR106275
SLC52A2Brown-Vialetto-Van Laere syndromeAR2725
SLC9A1Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome)AR24
SLC9A6Mental retardation, syndromic, ChristiansonXL2428
SNX14Spinocerebellar ataxiaAR1518
SPG7Spastic paraplegiaAR69111
SPTBN2Spinocerebellar ataxiaAD/AR1828
STUB1Spinocerebellar ataxiaAD/AR1328
SYNE1Spinocerebellar ataxia, autosomal recessive 8AD/AR83136
SYT14#*Spinocerebellar ataxiaAR53
TCTN1#Joubert syndromeAR66
TCTN2Joubert syndrome, Meckel syndromeAR2015
TCTN3Orofaciodigital syndrome (Mohr-Majewski syndrome), Joubert syndromeAR912
TDP1Spinocerebellar ataxia, with axonal neuropathyAR13
TGM6Spinocerebellar ataxiaAD824
TMEM138Joubert syndromeAR68
TMEM216Joubert syndrome, Meckel syndromeAR178
TMEM231Joubert syndrome, Meckel syndromeAR1219
TMEM237Joubert syndromeAR711
TMEM240Spinocerebellar ataxiaAD86
TMEM67Nephronophthisis, COACH syndrome, Joubert syndrome, Meckel syndromeAR87170
TPP1Spinocerebellar ataxia, Neuronal ceroid lipofuscinosis type 2AR75112
TRIM32Bardet-Biedl syndrome, Muscular dystrophy, limb-girdleAR1316
TTBK2Spinocerebellar ataxiaAD49
TTC19Mitochondrial complex III deficiency, nuclear type 2AR1310
TTC8Bardet-Biedl syndrome, Retinitis pigmentosaAR516
TTPAAtaxia with isolated vitamin E deficiencyAR2930
TUBB4A*Leukodystrophy, hypomyelinating, DystoniaAD3942
UBA5*Epileptic encephalopathy, early infantile, 44, Spinocerebellar ataxia, autosomal recessive 24AR1615
UBTFNeurodegeneration, childhood-onset, with brain atrophyAR31
UCHL1Parkinson disease 5, autosomal dominant, Spastic paraplegia 79, autosomal recessiveAD/AR55
VAMP1Spastic ataxiaAD36
VLDLRCerebellar ataxia, mental retardation, and dysequilibrium syndromeAR1124
WDPCPMeckel-Gruber syndrome, modifier, Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactylyAR68
WDR81Dysequilibrium syndromeAR817
WFS1Wolfram syndrome, Deafness, Wolfram-like syndrome, autosomal dominant, Deafness, autosomal dominant 6/14/38, Cataract 41AD/AR69362
WWOXEpileptic encephalopathy, early infantile, Spinocerebellar ataxiaAR4345
ZFYVE26Spastic paraplegia 15AR6339
ZNF423Nephronophthisis, Joubert syndromeAD/AR107
GeneAssociated phenotypesInheritanceClinVarHGMD
CCM2Cerebral cavernous malformationsAD2985
KRIT1Cerebral cavernous malformationsAD80264
PDCD10Cerebral cavernous malformationsAD2276
RASA1Parkes Weber syndrome, Capillary malformation-arteriovenous malformation, Spinal arteriovenous anomaliesAD55132
GeneAssociated phenotypesInheritanceClinVarHGMD
ADCK3Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxiaAR4543
ANO10Spinocerebellar ataxiaAR1918
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAR1446
COQ2Coenzyme Q10 deficiencyAR1631
COQ4Coenzyme Q10 deficiency 7AR1413
COQ5Coenzyme Q10 deficiencyAR12
COQ6Coenzyme Q10 deficiencyAR1415
COQ7Coenzyme Q10 deficiency, primary 8AR12
COQ9Coenzyme Q10 deficiencyAR25
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR829
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR615
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR43190
PDSS1#Coenzyme Q10 deficiencyAR53
PDSS2Coenzyme Q10 deficiencyAR84
SLC25A26Combined oxidative phosphorylation deficiency 28AR44
GeneAssociated phenotypesInheritanceClinVarHGMD
COL12A1Bethlem myopathy, Ullrich congenital muscular dystrophyAD/AR1413
COL4A1Schizencephaly, Anterior segment dysgenesis with cerebral involvement, Retinal artery tortuosity, Porencephaly, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Brain small vessel diseaseAD58107
COL4A2Hemorrhage, intracerebralAD1412
COL6A1Bethlem myopathy, Ullrich congenital muscular dystrophyAD/AR81132
COL6A2Epilepsy, progressive myoclonic, Bethlem myopathy, Myosclerosis, congenital, Ullrich congenital muscular dystrophyAD/AR101182
COL6A3Bethlem myopathy, Dystonia, Ullrich congenital muscular dystrophyAD/AR68138
GeneAssociated phenotypesInheritanceClinVarHGMD
GAMTGuanidinoacetate methyltransferase deficiencyAR1858
GATMArginine:glycine amidinotransferase deficiencyAR721
SLC6A8*Creatine deficiency syndromeXL38133
GeneAssociated phenotypesInheritanceClinVarHGMD
DMDBecker muscular dystrophy, Duchenne muscular dystrophy, Dilated cardiomyopathy (DCM)XL8323915
EMDEmery-Dreifuss muscular dystrophyXL48113
FHL1*Myopathy with postural muscle atrophy, Emery-Dreifuss muscular dystrophy, Reducing bod myopathyXL2662
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/AR250564
TMEM43Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophyAD424
TTN*Dilated cardiomyopathy (DCM), Tibial muscular dystrophy, Limb-girdle muscular dystrophy, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy (Salih myopathy), Muscular dystrophy, limb-girdle, type 2JAD818327
GeneAssociated phenotypesInheritanceClinVarHGMD
CDONHoloprosencephalyAD710
FGF8Hypogonadotropic hypogonadismAD/Digenic1836
FGFR1Pfeiffer syndrome, Trigonocephaly, Hypogonadotropic hypogonadism, Osteoglophonic Dwarfism – Craniostenosis, Hartsfield syndromeAD/Digenic/Multigenic72257
FOXH1Congenital heart malformations, HoloprosencephalyAD33
GLI2Culler-Jones syndromeAD2982
GLI3Acrocallosal syndrome, Pallister-Hall syndrome, Grieg cephalopolysndactyly syndrome, Postaxial polydactyly type A, Preaxial polydactyly type 3, Preaxial polydactyly type 4AD70235
NODALHeterotaxy, visceralAD415
PTCH1Basal cell nevus syndromeAD193522
SHHHoloprosencephaly, Microphthalmia with colobomaAD42218
SIX3HoloprosencephalyAD1787
TGIF1HoloprosencephalyAD925
ZIC2HoloprosencephalyAD22114
GeneAssociated phenotypesInheritanceClinVarHGMD
ACTB*Baraitser-Winter syndromeAD5560
ACTG1*Deafness, Baraitser-Winter syndromeAD2747
ARX#Lissencephaly, Epileptic encephalopathy, Corpus callosum, agenesis of, with abnormal genitalia, Partington syndrome, Proud syndrome, Hydranencephaly with abnormal genitalia, Mental retardationXL6693
ATP6V0A2Cutis laxa, Wrinkly skin syndromeAR1656
CITMicrocephaly 17, primary, autosomal recessive914
CRADDMental retardation, autosomal recessive 34, with variant lissencephalyAR46
DCXLissencephaly, Subcortical laminal heterotopiaXL131142
FKTNMuscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy (limb-girdle)AD/AR4558
ISPDMuscular dystrophy-dystroglycanopathyAR3853
KATNB1Lissencephaly 6, with microcephalyAR610
KIAA1109Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeAR716
LAMB1Lissencephaly 5AR87
LARGEMuscular dystrophy-dystroglycanopathyAR1927
MACF1LissencephalyAD19
PAFAH1B1Lissencephaly, Subcortical laminar heterotopiaAD121169
POMGNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8AR69
POMT1Muscular dystrophy-dystroglycanopathyAR4796
RELNLissencephaly, Epilepsy, familial temporal lobeAD/AR2544
TMTC3Lissencephaly 8610
TUBA1A*LissencephalyAD6965
TUBB2B#*Polymicrogyria, asymmetricAD2130
TUBG1*Cortical dysplasia, complex, with other brain malformations 4AD53
VLDLRCerebellar ataxia, mental retardation, and dysequilibrium syndromeAR1124
YWHAEDistal 17p13.3 microdeletion syndrome, Endometrial stromal sarcoma, 17p13.3 microduplication syndrome, Miller-Dieker syndromeAD/AR1244
GeneAssociated phenotypesInheritanceClinVarHGMD
ATP1A2Migraine, familial hemiplegic, Alternating hemiplegia of childhood, Migraine, familial hemiplegic, 2, Migraine, familial basilarAD/AR3696
ATP1A3Alternating hemiplegia of childhood, Dystonia 12AD79112
CACNA1AMigraine, familial hemiplegic, Episodic ataxia, Spinocerebellar ataxia 6, Epileptic encephalopathy, early infantile, 42AD135230
KCNK18Migraine, with or without auraAD26
MT-ATP6Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialMitochondrial19
MT-ATP8Cardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophicMitochondrial4
MT-CO1Myoglobinuria, recurrent, Leber hereditary optic neuropathy, Sideroblastic anemia, Cytochrome C oxidase deficiencyMitochondrial17
MT-CO2Cytochrome c oxidase deficiencyMitochondrial8
MT-CO3Cytochrome c oxidase deficiency, Leber hereditary optic neuropathyMitochondrial9
MT-CYBLeber hereditary optic neuropathyMitochondrial69
MT-ND1Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Leber optic atrophy and dystoniaMitochondrial21
MT-ND2Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial6
MT-ND3Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial7
MT-ND4Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial11
MT-ND4LLeber hereditary optic neuropathyMitochondrial2
MT-ND5Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Leber hereditary optic neuropathy, Mitochondrial complex I deficiencyMitochondrial19
MT-ND6Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, Oncocytoma, Leber hereditary optic neuropathy, Leber optic atrophy and dystonia, Mitochondrial complex I deficiencyMitochondrial16
MT-RNR1Deafness, mitochondrialMitochondrial3
MT-RNR2Chloramphenicol toxicity/resistanceMitochondrial2
MT-TALeber hereditary optic neuropathy, Mitochondrial multisystemic disorder, Progressive external ophthalmoplegia, Dilated cardiomyopathy (DCM)Mitochondrial4
MT-TCMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TDMitochondrial multisystemic disorderMitochondrial1
MT-TEDiabetes-deafness syndrome, Mitochondrial myopathy, infantile, transient, Mitochondrial myopathy with diabetesMitochondrial5
MT-TFMyoclonic epilepsy with ragged red fibers, Nephropathy, tubulointerstitial, Encephalopathy, mitochondrial, Epilepsy, mitochondrial, Myopathy, mitochondrial, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial7
MT-TGHypertrophic cardiomyopathy, Encephalopathy, MyopathyMitochondrial3
MT-THMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial4
MT-TIProgressive external ophthalmoplegiaMitochondrial7
MT-TKMyoclonic epilepsy with ragged red fibersMitochondrial5
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 toMitochondrial14
MT-TL2Progressive external ophthalmoplegia, Mitochondrial multisystemic disorderMitochondrial5
MT-TMMitochondrial Myopathy, Leigh syndrome, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodesMitochondrial1
MT-TNProgressive external ophthalmoplegiaMitochondrial3
MT-TPMitochondrial multisystemic disorderMitochondrial2
MT-TQMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, EncephalopathyMitochondrial2
MT-TRDilated cardiomyopathy (DCM)Mitochondrial2
MT-TS1Myoclonic epilepsy with ragged red fibers, Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial10
MT-TS2Mitochondrial multisystemic disorderMitochondrial2
MT-TTMitochondrial5
MT-TVMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesMitochondrial3
MT-TWLeigh syndrome, Mitochondrial MyopathyMitochondrial8
MT-TYMitochondrial4
NOTCH3Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Lateral meningocele syndromeAD87364
POLGPOLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR89290
PRRT2Episodic kinesigenic dyskinesia, Seizures, benign familial infantile, 2, Convulsions, familial infantile, with paroxysmal choreoathetosisAD4299
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 3AAD7181585
SLC1A3Episodic ataxiaAD217
SLC2A1Stomatin-deficient cryohydrocytosis with neurologic defects, Epilepsy, idiopathic generalized, GLUT1 deficiency syndromeAD/AR106275
GeneAssociated phenotypesInheritanceClinVarHGMD
CACNA1SHypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysisAD1447
CLCN1Myotonia congenita, Myotonia congenita, Myotonia leviorAD/AR86313
KCNJ2Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillationAD4193
SCN4AHyperkalemic periodic paralysis, Myotonia, potassium-aggravated, Paramyotonia congenita, Myasthenic syndrome, congenital, Normokalemic potassium-sensitive periodic paralysisAD/AR57126
GeneAssociated phenotypesInheritanceClinVarHGMD
ALADPorphyria, acute hepaticAR611
ALAS2Anemia, sideroblastic, Protoporphyria, erythropoieticXL27103
CPOXCoproporphyria, HarderoporphyriaAD/AR1570
FECHProtoporphyria, erythropoieticAD/AR14193
HFEHemochromatosisAR/Digenic1156
HMBSPorphyria, acute intermittent, Hydroxymethylbilane synthase deficiencyAD/AR55419
PPOXPorphyria variegataAD/AR16183
URODPorphyria cutanea tarda, Porphyria, hepatoerythropoieticAD/AR15122
UROSPorphyria, congenital erythropoieticAR2249
GeneAssociated phenotypesInheritanceClinVarHGMD
AARSEpileptic encephalopathy, early infantile, Charcot-Marie-Tooth diseaseAD/AR916
ASAH1Spinal muscular atrophy with progressive myoclonic epilepsy, Farber lipogranulomatosisAR1671
ATP7AMenkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3XL116354
BICD2Childhood-onset proximal spinal muscular atrophy with contracturesAD1228
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 17AR3450
CHCHD10Myopathy, isolated mitochondrial, Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, Spinal muscular atrophy, Jokela typeAD426
DCTN1Perry syndrome, Neuropathy, distal hereditary motorAD1052
DNAJB2Spinal muscular atrophy, distal, Charcot-Marie-Tooth diseaseAR95
DYNC1H1Spinal muscular atrophy, Charcot-Marie-Tooth disease, Mental retardationAD6071
EXOSC3Pontocerebellar hypoplasiaAR1119
EXOSC8Pontocerebellar hypoplasiaAR13
FBXO38Neuronopathy, distal hereditary motorAD15
GARSNeuropathy, distal hereditary motor, Charcot-Marie-Tooth diseaseAD1938
HEXATay-Sachs disease, GM2-gangliosidosis, Hexosaminidase A deficiencyAR128194
HSPB1Neuropathy, distal hereditary motor, Charcot-Marie-Tooth diseaseAD2744
HSPB3Neuronopathy, distal hereditary motorAD2
HSPB8Charcot-Marie-Tooth disease, Distal hereditary motor neuronopathyAD69
IGHMBP2Spinal muscular atrophy, distal, Charcot-Marie-Tooth diseaseAR52128
LAS1LSpinal muscular atrophy with respiratory distressXL54
PLEKHG5Spinal muscular atrophy, Charcot-Marie-Tooth diseaseAR168
REEP1Spastic paraplegia, Distal hereditary motor neuronopathyAD1660
SCO2Leigh syndrome, Hypertrophic cardiomyopathy (HCM), Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, MyopiaAR4237
SLC5A7Neuronopathy, distal hereditary motor, Myasthenic syndrome, congenital, Neuronopathy, distal hereditary motor, type VIIAAD/AR517
SMN1#*Spinal muscular atrophyAR29111
SMN2#*Spinal muscular atrophyAD19
TBCEProgressive encephalopathy with amyotrophy and optic atrophy (PEAMO)AR128
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 brachydactylyAD6178
UBA1Spinal muscular atrophy, infantileXL35
VAPBAmyotrophic lateral sclerosis, Spinal muscular atrophy, late-onset, FinkelAD29
VRK1Pontocerebellar hypoplasiaAR99
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCD1*AdrenoleukodystrophyXL95663
ACSL4Mental retardationXL67
AFF2Premature ovarian failure, Mental retardation, X-linked, FRAXE typeXL625
AP1S2Mental retardation, syndromic, Fried (Pettigrew syndrome)XL1112
ARHGEF6Mental retardationXL25
ARHGEF9Epileptic encephalopathy, early infantileXL1023
ARX#Lissencephaly, Epileptic encephalopathy, Corpus callosum, agenesis of, with abnormal genitalia, Partington syndrome, Proud syndrome, Hydranencephaly with abnormal genitalia, Mental retardationXL6693
ATP6AP2Mental retardation, syndromic, Hedera, Parkinsonism with spasticityXL36
ATP7AMenkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3XL116354
ATRXCarpenter-Waziri syndrome, Alpha-thalassemia/mental retardation syndrome, Holmes-Gang syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, Mental retardation-hypotonic facies syndromeXL65165
BCORMicrophthalmia, syndromic, Oculofaciocardiodental syndromeXL4053
BRWD3Mental retardationXL917
CASKMental retardation and microcephaly with pontine and cerebellar hypoplasia, FG syndrome, Mental retardationXL87112
CDKL5Epileptic encephalopathy, early infantile, Rett syndrome, atypical, Angelman-like syndromeXL312331
CLCN4Mental retardation, X-linked 49XL2117
CNKSR2Epileptic encephalopathy, X-linked mental retardation, Epilepsy and X-linked mental retardationXL76
CUL4BMental retardation, syndromic, CabezasXL2338
DCXLissencephaly, Subcortical laminal heterotopiaXL131142
DDX3XMental retardation, X-linked 102XL8451
DKC1Hoyeraal-Hreidarsson syndrome, Dyskeratosis congenitaXL4874
DLG3Mental retardationXL1117
ELK1*Intellectual disabilityXL3
FANCBFanconi anemiaXL1121
FGD1Aarskog-Scott syndrome, Mental retardation, syndromicXL2951
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL133257
FMR1Premature ovarian failure, Fragile X syndrome, Fragile X tremor/ataxia syndromeXL1376
FRMPD4Mental retardation, X-linked 10446
FTSJ1Mental retardationXL510
GDI1Mental retardationXL711
GK*Glycerol kinase deficiencyXL1135
GPC3Simpson-Golabi-Behmel syndromeXL3375
GRIA3Mental retardationXL1223
HCCSLinear skin defects with multiple congenital anomalies 1 (MIDAS syndrome)XL713
HDAC8Cornelia de Lange syndromeXL4150
HPRT1Lesch-Nyhan syndrome, Kelley-Seegmiller syndromeXL72427
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromicXL1015
HUWE1Mental retardation, syndromic, TurnerXL3754
IDS*MucopolysaccharidosisXL85637
IGBP1Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathiaXL12
IL1RAPL1Mental retardationXL1741
IQSEC2Mental retardationXL5556
KDM5CMental retardation, syndromic, Claes-JensenXL4755
KIAA2022Mental retardationXL4240
KLF8Intellectual disabilityXL12
L1CAMMental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome, Hydrocephalus due to congenital stenosis of aqueduct of Sylvius, Spastic, CRASH syndrome, Corpus callosum, partial agenesisXL80292
LAMP2Danon diseaseXL62101
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia, Mental retardation, X-linked 95XL814
MAOABrunner syndromeXL714
MBTPS2Keratosis follicularis spinulosa decalvans, IFAP syndrome, Palmoplantar keratoderma, mutilating, with periorificial keratotic plaquesXL1225
MECP2Angelman-like syndrome, Autism, Rett syndrome, Encephalopathy, Mental retardationXL5061039
MED12Ohdo syndrome, Mental retardation, with Marfanoid habitus, FG syndrome, Opitz-Kaveggia syndrome, Lujan-Fryns syndromeXL2930
MID1*Opitz GBBB syndromeXL3096
MSL3Mental retardation, X-linkedXL9
MTM1Myopathy, centronuclearXL158301
NDPExudative vitreoretinopathy, Norrie diseaseXL31167
NDUFA1Mitochondrial complex I deficiencyXL34
NHSNance-Horan syndrome, CataractXL3652
NLGN3Autism, Asperger syndromeXL210
NLGN4XAutism, Asperger syndrome, Mental retardationXL735
NONOMental retardation, X-linked, syndrome 34, Left ventricular non-compaction cardiomyopathy (LVNC)XL104
NSDHLCongenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome), CK syndromeXL1528
NXF5#*Familial heart block and focal segmental glomerulosclerosis, Mental retardation, syndromic, X-linkedXL5
OCRLLowe syndrome, Dent diseaseXL47264
OFD1Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndromeXL153160
OPHN1Mental retardation, with cerebellar hypoplasia and distinctive facial appearanceXL2842
OTCOrnithine transcarbamylase deficiencyXL343513
PAK3Mental retardationXL913
PCDH19Epileptic encephalopathy, early infantileXL116200
PDHA1Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiencyXL66192
PGK1Phosphoglycerate kinase 1 deficiencyXL1626
PHF6Borjeson-Forssman-Lehmann syndromeXL2229
PHF8Mental retardation syndrome, SideriusXL1315
PLP1Spastic paraplegia, Pelizaeus-Merzbacher diseaseXL60348
PORCNFocal dermal hypoplasiaXL16121
PQBP1Renpenning syndromeXL1418
PRPS1*Phosphoribosylpyrophosphate synthetase I superactivity, Arts syndrome, Charcot-Marie-Tooth disease, X-linked recessive, 5, Deafness, X-linked 1XL2732
PTCHD1Autism susceptibility, X-linked 4XL947
RAB39BWaisman parkinsonism-mental retardation syndrome, Mental retardationXL617
RBM10TARP syndromeXL1210
RLIM*Mental retardation, X-linked 61XL45
RPL10AutismXL45
RPS6KA3Coffin-Lowry syndrome, Mental retardationXL65171
SHROOM4Stocco dos Santos mental retardation syndromeXL49
SLC16A2Allan-Herndon-Dudley syndromeXL3984
SLC6A8*Creatine deficiency syndromeXL38133
SLC9A6Mental retardation, syndromic, ChristiansonXL2428
SMC1ACornelia de Lange syndromeXL7387
SMSMental retardation, Snyder-RobinsonXL1114
SOX3PanhypopituitarismXL426
SRPX2Rolandic epilepsy, mental retardation, and speech dyspraxiaXL34
SYN1Epilepsy, with variable learning disabilities and behavior disordersXL128
SYPMental retardationXL48
TAF1Dystonia 3, torsion, X-linked, Mental retardation, X-linked, syndromic 33XL1314
THOC2Mental retardation, X-linked 12XL125
TIMM8A*Mohr-Tranebjaerg syndrome, Jensen syndrome, Opticoacoustic nerve atrophy with dementiaXL1121
TSPAN7Mental retardationXL412
UBE2AMental retardation, syndromic, NascimentoXL925
UPF3BMental retardation, syndromicXL921
USP9XMental retardation, X-linked 99, Mental retardation, X-linked 99, syndromic, female restrictedXL3027
ZC4H2Wieacker-Wolff syndromeXL2016
ZCCHC12Intellectual disabilityXL2
ZDHHC9Mental retardation, syndromic, RaymondXL914
ZNF41Mental retardationXL6
ZNF674Mental retardationXL7
ZNF711Mental retardationXL68
ZNF81Mental retardationXL33
GeneAssociated phenotypesInheritanceClinVarHGMD
TSC1Lymphangioleiomyomatosis, Tuberous sclerosisAD177372
TSC2Lymphangioleiomyomatosis, Tuberous sclerosisAD3961195