Human Phenotype Ontology 
Grandparent Node:
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Abnormality of central motor function (HP:0011442)help
Parent Node:
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Abnormal cerebellum morphology (HP:0001317)help
Parent Node:
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Abnormality of coordination (HP:0011443)help
..Starting node
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Ataxia (HP:0001251)help
Term ID: 1251
Name: Ataxia
Synonym: Cerebellar ataxia
Definition: Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Comments:
Reference: HP:0001251
Genes and Diseases:
 
       Child Nodes:
........expandDysmetria (HP:0001310) help
................... HP:0002406 Limb dysmetria
........expandGait ataxia (HP:0002066) help
................... HP:0007240 Progressive gait ataxia
................... HP:0012651 Abasia
........expandLimb ataxia (HP:0002070) help
........expandProgressive cerebellar ataxia (HP:0002073) help
........expandDysdiadochokinesis (HP:0002075) help
........expandTruncal ataxia (HP:0002078) help
................... HP:0007221 Progressive truncal ataxia
........expandEpisodic ataxia (HP:0002131) help
........expandNonprogressive cerebellar ataxia (HP:0002470) help
........expandSpastic ataxia (HP:0002497) help
........expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
........expandDyssynergia (HP:0010867) help
................... HP:0010868 Ocular dyssynergia
................... HP:0010869 Asynergia

 Sister Nodes: 
..expandIncoordination (HP:0002311) help
..expandMotor impersistence (HP:0040200) help
..expandPoor motor coordination (HP:0002275) help
..expandSlurred speech (HP:0001350) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001251HP:0001251Ataxia0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM17911713666605378
HP:0001251HP:0001251Ataxia0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM13132021022612035
HP:0001251HP:0001251Ataxia0ABCB7 CL E G H222802ORPHA1924348300135
HP:0001251HP:0001251Ataxia0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1661110859600509
HP:0001251HP:0001251Ataxia0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM12131115868613599
HP:0001251HP:0001251Ataxia0ABHD5 CL E G H5109998907ORPHA13917221396604780
HP:0001251HP:0001251Ataxia0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13917221396604780
HP:0001251HP:0001251Ataxia0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM119279118100850
HP:0001251HP:0001251Ataxia0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1553091839607575
HP:0001251HP:0001251Ataxia0AGRN CL E G H37579098914ORPHA1181303329103320
HP:0001251HP:0001251Ataxia0AHI1 CL E G H54806220493ORPHA19663421575608894
HP:0001251HP:0001251Ataxia0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA19663421575608894
HP:0001251HP:0001251Ataxia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19663421575608894
HP:0001251HP:0001251Ataxia0AKT1 CL E G H207201ORPHA112379391164730
HP:0001251HP:0001251Ataxia0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA175465408610045
HP:0001251HP:0001251Ataxia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175465408610045
HP:0001251HP:0001251Ataxia0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM12630623157604566
HP:0001251HP:0001251Ataxia0ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM11913896211300836
HP:0001251HP:0001251Ataxia0AP5Z1 CL E G H9907306511ORPHA11669922197613653
HP:0001251HP:0001251Ataxia0APOB CL E G H338615558Hypobetalipoproteinemia, familial, 1615558CN182502OMIM13332315603107730
HP:0001251HP:0001251Ataxia0APOPT1 CL E G H84334436271ORPHA112120492616003
HP:0001251HP:0001251Ataxia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112120492616003
HP:0001251HP:0001251Ataxia0APTX CL E G H548401168ORPHA14623015984606350
HP:0001251HP:0001251Ataxia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14623015984606350
HP:0001251HP:0001251Ataxia0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA11018325419608922
HP:0001251HP:0001251Ataxia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM11018325419608922
HP:0001251HP:0001251Ataxia0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1363694604695
HP:0001251HP:0001251Ataxia0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM1363694604695
HP:0001251HP:0001251Ataxia0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA11125020730617612
HP:0001251HP:0001251Ataxia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1254723713607574
HP:0001251HP:0001251Ataxia0ARSG CL E G H22901231183ORPHA1317424102610008
HP:0001251HP:0001251Ataxia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM136129561611647
HP:0001251HP:0001251Ataxia0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169418746608310
HP:0001251HP:0001251Ataxia0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1169418746608310
HP:0001251HP:0001251Ataxia0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157472758603470
HP:0001251HP:0001251Ataxia0ATAD1 CL E G H848963197Lateral body wall defectORPHA132725903614452
HP:0001251HP:0001251Ataxia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11723425567612316
HP:0001251HP:0001251Ataxia0ATM CL E G H472100ORPHA1132410266795607585
HP:0001251HP:0001251Ataxia0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM1132410266795607585
HP:0001251HP:0001251Ataxia0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM14447930213610513
HP:0001251HP:0001251Ataxia0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM14447930213610513
HP:0001251HP:0001251Ataxia0ATP1A2 CL E G H477569ORPHA199706800182340
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H4781171ORPHA1122597801182350
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1122597801182350
HP:0001251HP:0001251Ataxia0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM17291816300014
HP:0001251HP:0001251Ataxia0ATP8A2 CL E G H517611766ORPHA11111913533605870
HP:0001251HP:0001251Ataxia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1220918802608918
HP:0001251HP:0001251Ataxia0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM112143890600529
HP:0001251HP:0001251Ataxia0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA11019524123614144
HP:0001251HP:0001251Ataxia0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM11019524123614144
HP:0001251HP:0001251Ataxia0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105489966209901
HP:0001251HP:0001251Ataxia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1101379986608348
HP:0001251HP:0001251Ataxia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1115447987248611
HP:0001251HP:0001251Ataxia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1372461020603647
HP:0001251HP:0001251Ataxia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1372461020603647
HP:0001251HP:0001251Ataxia0BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM123524160612051
HP:0001251HP:0001251Ataxia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM15032115832606158
HP:0001251HP:0001251Ataxia0BTD CL E G H68679241ORPHA12484501122609019
HP:0001251HP:0001251Ataxia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12484501122609019
HP:0001251HP:0001251Ataxia0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11126784613541
HP:0001251HP:0001251Ataxia0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM13823825443614297
HP:0001251HP:0001251Ataxia0C9orf72 CL E G H203228401901ORPHA12416028337614260
HP:0001251HP:0001251Ataxia0CA8 CL E G H7671766ORPHA14771382114815
HP:0001251HP:0001251Ataxia0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM14771382114815
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H77371518ORPHA125119631388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H773569ORPHA125119631388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H77397ORPHA125119631388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM125119631388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM125119631388601011
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H575452318ORPHA19686529253612013
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19686529253612013
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19686529253612013
HP:0001251HP:0001251Ataxia0CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0001251HP:0001251Ataxia0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA1734324866616690
HP:0001251HP:0001251Ataxia0CEP120 CL E G H153241220493ORPHA1920026690613446
HP:0001251HP:0001251Ataxia0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA1920026690613446
HP:0001251HP:0001251Ataxia0CEP290 CL E G H801842318ORPHA1310151729021610142
HP:0001251HP:0001251Ataxia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1310151729021610142
HP:0001251HP:0001251Ataxia0CEP41 CL E G H95681220493ORPHA11129712370610523
HP:0001251HP:0001251Ataxia0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA11129712370610523
HP:0001251HP:0001251Ataxia0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11129712370610523
HP:0001251HP:0001251Ataxia0CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0001251HP:0001251Ataxia0CHAT CL E G H110398914ORPHA1775001912118490
HP:0001251HP:0001251Ataxia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM12720215559615903
HP:0001251HP:0001251Ataxia0CHD2 CL E G H11061942ORPHA16011261917602119
HP:0001251HP:0001251Ataxia0CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0001251HP:0001251Ataxia0CISD2 CL E G H4938563463ORPHA142624212611507
HP:0001251HP:0001251Ataxia0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM1524432076608102
HP:0001251HP:0001251Ataxia0CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM1854582077606725
HP:0001251HP:0001251Ataxia0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM1444282079607837
HP:0001251HP:0001251Ataxia0CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0001251HP:0001251Ataxia0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM114902092118955
HP:0001251HP:0001251Ataxia0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM178130013830604569
HP:0001251HP:0001251Ataxia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM172725716615623
HP:0001251HP:0001251Ataxia0COG4 CL E G H25839263501ORPHA1620918620606976
HP:0001251HP:0001251Ataxia0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM1620918620606976
HP:0001251HP:0001251Ataxia0COL13A1 CL E G H130598914ORPHA131752190120350
HP:0001251HP:0001251Ataxia0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1367512195120328
HP:0001251HP:0001251Ataxia0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13313425223609825
HP:0001251HP:0001251Ataxia0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM14336316812606980
HP:0001251HP:0001251Ataxia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132452260602125
HP:0001251HP:0001251Ataxia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132452260602125
HP:0001251HP:0001251Ataxia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111928216614478
HP:0001251HP:0001251Ataxia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM152152263603646
HP:0001251HP:0001251Ataxia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1113726970614698
HP:0001251HP:0001251Ataxia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13422280124089
HP:0001251HP:0001251Ataxia0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11162294123870
HP:0001251HP:0001251Ataxia0CP CL E G H135648818ORPHA1604652295117700
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H652502754ORPHA111880625801614571
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA111880625801614571
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM111880625801614571
HP:0001251HP:0001251Ataxia0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM12768072323608307
HP:0001251HP:0001251Ataxia0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA12745726193611654
HP:0001251HP:0001251Ataxia0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12745726193611654
HP:0001251HP:0001251Ataxia0CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM1152212482601145
HP:0001251HP:0001251Ataxia0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM13472226169613129
HP:0001251HP:0001251Ataxia0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM113222498604927
HP:0001251HP:0001251Ataxia0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM16852510114025
HP:0001251HP:0001251Ataxia0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1194102529116840
HP:0001251HP:0001251Ataxia0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM1111192531603539
HP:0001251HP:0001251Ataxia0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11164392605606530
HP:0001251HP:0001251Ataxia0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM12782661603448
HP:0001251HP:0001251Ataxia0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16522025538610956
HP:0001251HP:0001251Ataxia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM1784652698248610
HP:0001251HP:0001251Ataxia0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM11423522714300121
HP:0001251HP:0001251Ataxia0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM192752861126060
HP:0001251HP:0001251Ataxia0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM163716716616423
HP:0001251HP:0001251Ataxia0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM151622896608770
HP:0001251HP:0001251Ataxia0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM1233272898238331
HP:0001251HP:0001251Ataxia0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM191572938612186
HP:0001251HP:0001251Ataxia0DNAJC19 CL E G H13111866634ORPHA167530528608977
HP:0001251HP:0001251Ataxia0DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM1233316235611203
HP:0001251HP:0001251Ataxia0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM1237312976126375
HP:0001251HP:0001251Ataxia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191553005603503
HP:0001251HP:0001251Ataxia0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1702183180131244
HP:0001251HP:0001251Ataxia0ELP1 CL E G H85181764ORPHA1610515959603722
HP:0001251HP:0001251Ataxia0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0001251HP:0001251Ataxia0ERCC2 CL E G H2068220295ORPHA11083193434126340
HP:0001251HP:0001251Ataxia0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11083193434126340
HP:0001251HP:0001251Ataxia0ERCC3 CL E G H2071220295ORPHA1201713435133510
HP:0001251HP:0001251Ataxia0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201713435133510
HP:0001251HP:0001251Ataxia0ERCC4 CL E G H2072220295ORPHA1724503436133520
HP:0001251HP:0001251Ataxia0ERCC5 CL E G H2073220295ORPHA1593363437133530
HP:0001251HP:0001251Ataxia0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11408153438609413
HP:0001251HP:0001251Ataxia0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11408153438609413
HP:0001251HP:0001251Ataxia0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1703093439609412
HP:0001251HP:0001251Ataxia0ETHE1 CL E G H2347451188ORPHA13720323287608451
HP:0001251HP:0001251Ataxia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM13720323287608451
HP:0001251HP:0001251Ataxia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1326729160612322
HP:0001251HP:0001251Ataxia0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11732424682609144
HP:0001251HP:0001251Ataxia0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM125725491616305
HP:0001251HP:0001251Ataxia0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM1629529007300838
HP:0001251HP:0001251Ataxia0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM1641033999134790
HP:0001251HP:0001251Ataxia0GABRA1 CL E G H255433069ORPHA1484094075137160
HP:0001251HP:0001251Ataxia0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM15494081137190
HP:0001251HP:0001251Ataxia0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM1163104082600232
HP:0001251HP:0001251Ataxia0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM1676324083137192
HP:0001251HP:0001251Ataxia0GABRG2 CL E G H256633069ORPHA1474104087137164
HP:0001251HP:0001251Ataxia0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM1603794136601240
HP:0001251HP:0001251Ataxia0GBA CL E G H262977261ORPHA14942454177606463
HP:0001251HP:0001251Ataxia0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14942454177606463
HP:0001251HP:0001251Ataxia0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM11352724235137780
HP:0001251HP:0001251Ataxia0GJA1 CL E G H26972710Hm syndromeORPHA11091624274121014
HP:0001251HP:0001251Ataxia0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091624274121014
HP:0001251HP:0001251Ataxia0GJC2 CL E G H57165320401ORPHA15716717494608803
HP:0001251HP:0001251Ataxia0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15716717494608803
HP:0001251HP:0001251Ataxia0GLB1 CL E G H2720230600GM1 gangliosidosis type 2230600C0268272OMIM12315024298611458
HP:0001251HP:0001251Ataxia0GLRA1 CL E G H27413197Lateral body wall defectORPHA1722944326138491
HP:0001251HP:0001251Ataxia0GLRB CL E G H27433197Lateral body wall defectORPHA1191564329138492
HP:0001251HP:0001251Ataxia0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM14919722932615320
HP:0001251HP:0001251Ataxia0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM152104431604027
HP:0001251HP:0001251Ataxia0GPHN CL E G H102433197Lateral body wall defectORPHA12026115465603930
HP:0001251HP:0001251Ataxia0GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM142674458172400
HP:0001251HP:0001251Ataxia0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM12312954601138945
HP:0001251HP:0001251Ataxia0GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM1401224624601002
HP:0001251HP:0001251Ataxia0HACE1 CL E G H57531464282ORPHA1137321033610876
HP:0001251HP:0001251Ataxia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM1137321033610876
HP:0001251HP:0001251Ataxia0HARS CL E G H3035231183ORPHA1134816142810
HP:0001251HP:0001251Ataxia0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM12820126361611642
HP:0001251HP:0001251Ataxia0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM12820126361611642
HP:0001251HP:0001251Ataxia0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11263574879606873
HP:0001251HP:0001251Ataxia0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141845042300610
HP:0001251HP:0001251Ataxia0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM1541629476602194
HP:0001251HP:0001251Ataxia0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA1217126558610693
HP:0001251HP:0001251Ataxia0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17283729077614620
HP:0001251HP:0001251Ataxia0INPP5E CL E G H56623220493ORPHA15446121474613037
HP:0001251HP:0001251Ataxia0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA15446121474613037
HP:0001251HP:0001251Ataxia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA15446121474613037
HP:0001251HP:0001251Ataxia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15446121474613037
HP:0001251HP:0001251Ataxia0INPP5K CL E G H51763559ORPHA11014133882607875
HP:0001251HP:0001251Ataxia0ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM16686174603904
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA1958506180147265
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1958506180147265
HP:0001251HP:0001251Ataxia0KCNA1 CL E G H3736972ORPHA1483846218176260
HP:0001251HP:0001251Ataxia0KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM1212296220176262
HP:0001251HP:0001251Ataxia0KCNJ10 CL E G H3766199343ORPHA1332896256602208
HP:0001251HP:0001251Ataxia0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA1229068616650
HP:0001251HP:0001251Ataxia0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA13131919960610178
HP:0001251HP:0001251Ataxia0KIAA0753 CL E G H98512754ORPHA1711829110617112
HP:0001251HP:0001251Ataxia0KIF1A CL E G H547101010ORPHA1431405888601255
HP:0001251HP:0001251Ataxia0KIF7 CL E G H3746542754ORPHA14551330497611254
HP:0001251HP:0001251Ataxia0KLLN CL E G H100144748201ORPHA1824737212612105
HP:0001251HP:0001251Ataxia0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141886556604407
HP:0001251HP:0001251Ataxia0LMBRD1 CL E G H5578879284ORPHA1915223038612625
HP:0001251HP:0001251Ataxia0LMNB1 CL E G H400199027ORPHA1351266637150340
HP:0001251HP:0001251Ataxia0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM1351266637150340
HP:0001251HP:0001251Ataxia0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM12180615714607544
HP:0001251HP:0001251Ataxia0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM196228072615831
HP:0001251HP:0001251Ataxia0MAST1 CL E G H22983618273618273618273OMIM144419034612256
HP:0001251HP:0001251Ataxia0MBD5 CL E G H55777228402ORPHA19185220444611472
HP:0001251HP:0001251Ataxia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19185220444611472
HP:0001251HP:0001251Ataxia0MCOLN1 CL E G H57192578Akesson syndromeORPHA13641513356605248
HP:0001251HP:0001251Ataxia0MECP2 CL E G H4204778ORPHA1105015846990300005
HP:0001251HP:0001251Ataxia0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105015846990300005
HP:0001251HP:0001251Ataxia0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM1105015846990300005
HP:0001251HP:0001251Ataxia0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM164919691608205
HP:0001251HP:0001251Ataxia0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18152422962608771
HP:0001251HP:0001251Ataxia0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM14951428486611124
HP:0001251HP:0001251Ataxia0MICOS13 CL E G H12598867047ORPHA11933702616658
HP:0001251HP:0001251Ataxia0MKS1 CL E G H54903220493ORPHA1524737121609883
HP:0001251HP:0001251Ataxia0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA1524737121609883
HP:0001251HP:0001251Ataxia0MKS1 CL E G H54903617121Joubert syndrome 28617121C4310705OMIM1524737121609883
HP:0001251HP:0001251Ataxia0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM111147717082605908
HP:0001251HP:0001251Ataxia0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM17937207604041
HP:0001251HP:0001251Ataxia0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501547224137960
HP:0001251HP:0001251Ataxia0MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001251HP:0001251Ataxia0MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0001251HP:0001251Ataxia0MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001251HP:0001251Ataxia0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0001251HP:0001251Ataxia0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0001251HP:0001251Ataxia0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0001251HP:0001251Ataxia0MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001251HP:0001251Ataxia0MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001251HP:0001251Ataxia0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0001251HP:0001251Ataxia0MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001251HP:0001251Ataxia0MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001251HP:0001251Ataxia0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0001251HP:0001251Ataxia0MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001251HP:0001251Ataxia0MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001251HP:0001251Ataxia0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0001251HP:0001251Ataxia0MT-ND5 CL E G H4540551ORPHA17461516005
HP:0001251HP:0001251Ataxia0MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001251HP:0001251Ataxia0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0001251HP:0001251Ataxia0MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001251HP:0001251Ataxia0MT-RNR1 CL E G H4549551ORPHA17470180450
HP:0001251HP:0001251Ataxia0MT-TF CL E G H4558550ORPHA17481590070
HP:0001251HP:0001251Ataxia0MT-TF CL E G H4558551ORPHA17481590070
HP:0001251HP:0001251Ataxia0MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001251HP:0001251Ataxia0MT-TH CL E G H4564550ORPHA17487590040
HP:0001251HP:0001251Ataxia0MT-TH CL E G H4564551ORPHA17487590040
HP:0001251HP:0001251Ataxia0MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001251HP:0001251Ataxia0MT-TK CL E G H4566551ORPHA17489590060
HP:0001251HP:0001251Ataxia0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001251HP:0001251Ataxia0MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001251HP:0001251Ataxia0MT-TL1 CL E G H4567551ORPHA17490590050
HP:0001251HP:0001251Ataxia0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0001251HP:0001251Ataxia0MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001251HP:0001251Ataxia0MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001251HP:0001251Ataxia0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001251HP:0001251Ataxia0MT-TP CL E G H4571551ORPHA17494590075
HP:0001251HP:0001251Ataxia0MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001251HP:0001251Ataxia0MT-TQ CL E G H4572551ORPHA17495590030
HP:0001251HP:0001251Ataxia0MT-TQ CL E G H4572550ORPHA17495590030
HP:0001251HP:0001251Ataxia0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0001251HP:0001251Ataxia0MT-TS1 CL E G H4574551ORPHA17497590080
HP:0001251HP:0001251Ataxia0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001251HP:0001251Ataxia0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0001251HP:0001251Ataxia0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0001251HP:0001251Ataxia0MT-TS2 CL E G H4575551ORPHA17498590085
HP:0001251HP:0001251Ataxia0MT-TW CL E G H4578550ORPHA17501590095
HP:0001251HP:0001251Ataxia0MTTP CL E G H4547200100Abetalipoproteinaemia200100C0000744OMIM1764387467157147
HP:0001251HP:0001251Ataxia0MTTP CL E G H454714Bilateral squintCN228276ORPHA1764387467157147
HP:0001251HP:0001251Ataxia0MVK CL E G H459829ORPHA11833707530251170
HP:0001251HP:0001251Ataxia0MYO5A CL E G H464479476ORPHA1122147602160777
HP:0001251HP:0001251Ataxia0MYO7A CL E G H4647231169ORPHA152721647606276903
HP:0001251HP:0001251Ataxia0MYO9A CL E G H464998914ORPHA161647608604875
HP:0001251HP:0001251Ataxia0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM1127319237605202
HP:0001251HP:0001251Ataxia0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM1105518453608862
HP:0001251HP:0001251Ataxia0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM11016228625612392
HP:0001251HP:0001251Ataxia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM1282567707157655
HP:0001251HP:0001251Ataxia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0001251HP:0001251Ataxia0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM181287714601825
HP:0001251HP:0001251Ataxia0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM1361727716161015
HP:0001251HP:0001251Ataxia0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1417112768606026
HP:0001251HP:0001251Ataxia0NEU1 CL E G H4758812ORPHA1641107758608272
HP:0001251HP:0001251Ataxia0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14161629433300524
HP:0001251HP:0001251Ataxia0NF2 CL E G H4771637ORPHA143710107773607379
HP:0001251HP:0001251Ataxia0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM114316311825600635
HP:0001251HP:0001251Ataxia0NKX6-2 CL E G H84504527497ORPHA1911619321605955
HP:0001251HP:0001251Ataxia0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11147849156490
HP:0001251HP:0001251Ataxia0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM13417869605235
HP:0001251HP:0001251Ataxia0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141777871300084
HP:0001251HP:0001251Ataxia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM147810787897607623
HP:0001251HP:0001251Ataxia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM12712614537601015
HP:0001251HP:0001251Ataxia0NPHP1 CL E G H4867220497ORPHA1795257905607100
HP:0001251HP:0001251Ataxia0NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM1795257905607100
HP:0001251HP:0001251Ataxia0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11423912766602952
HP:0001251HP:0001251Ataxia0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM11422120278613621
HP:0001251HP:0001251Ataxia0OFD1 CL E G H84812754ORPHA11626332567300170
HP:0001251HP:0001251Ataxia0OFD1 CL E G H84812750ORPHA11626332567300170
HP:0001251HP:0001251Ataxia0OGDH CL E G H496731Serpiginous choroiditisORPHA11778124613022
HP:0001251HP:0001251Ataxia0OPA3 CL E G H8020767047ORPHA1153668142606580
HP:0001251HP:0001251Ataxia0OPA3 CL E G H8020767036ORPHA1153668142606580
HP:0001251HP:0001251Ataxia0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM1153668142606580
HP:0001251HP:0001251Ataxia0OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM15277398512300461
HP:0001251HP:0001251Ataxia0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM118225815894606157
HP:0001251HP:0001251Ataxia0PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA15715708620607108
HP:0001251HP:0001251Ataxia0PCDH15 CL E G H65217231169ORPHA1122169214674605514
HP:0001251HP:0001251Ataxia0PCDH19 CL E G H5752633069ORPHA120590014270300460
HP:0001251HP:0001251Ataxia0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM11408729176740
HP:0001251HP:0001251Ataxia0PDE6D CL E G H51472754ORPHA11418788602676
HP:0001251HP:0001251Ataxia0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12222821350608769
HP:0001251HP:0001251Ataxia0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM124240038614770
HP:0001251HP:0001251Ataxia0PEX1 CL E G H5189772ORPHA11407828850602136
HP:0001251HP:0001251Ataxia0PEX10 CL E G H5192772ORPHA1324758851602859
HP:0001251HP:0001251Ataxia0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM1324758851602859
HP:0001251HP:0001251Ataxia0PEX11B CL E G H8799772ORPHA182818853603867
HP:0001251HP:0001251Ataxia0PEX12 CL E G H5193772ORPHA1372408854601758
HP:0001251HP:0001251Ataxia0PEX13 CL E G H5194772ORPHA1102328855601789
HP:0001251HP:0001251Ataxia0PEX14 CL E G H5195772ORPHA152348856601791
HP:0001251HP:0001251Ataxia0PEX16 CL E G H9409772ORPHA1152038857603360
HP:0001251HP:0001251Ataxia0PEX19 CL E G H5824772ORPHA141799713600279
HP:0001251HP:0001251Ataxia0PEX2 CL E G H5828772ORPHA1182519717170993
HP:0001251HP:0001251Ataxia0PEX26 CL E G H55670772ORPHA12731322965608666
HP:0001251HP:0001251Ataxia0PEX3 CL E G H8504772ORPHA1101558858603164
HP:0001251HP:0001251Ataxia0PEX5 CL E G H5830772ORPHA1144039719600414
HP:0001251HP:0001251Ataxia0PEX6 CL E G H5190772ORPHA11096398859601498
HP:0001251HP:0001251Ataxia0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM11096398859601498
HP:0001251HP:0001251Ataxia0PEX7 CL E G H5191773ORPHA1533108860601757
HP:0001251HP:0001251Ataxia0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM1533108860601757
HP:0001251HP:0001251Ataxia0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM1282178896311800
HP:0001251HP:0001251Ataxia0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM1161618907172100
HP:0001251HP:0001251Ataxia0PHYH CL E G H5264773ORPHA1372018940602026
HP:0001251HP:0001251Ataxia0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM1372018940602026
HP:0001251HP:0001251Ataxia0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA189223352607532
HP:0001251HP:0001251Ataxia0PIBF1 CL E G H10464617767JOUBERT SYNDROME 33617767C4540389OMIM189223352607532
HP:0001251HP:0001251Ataxia0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM1655725985616918
HP:0001251HP:0001251Ataxia0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM11211514938610272
HP:0001251HP:0001251Ataxia0PIK3CA CL E G H5290201ORPHA1575318975171834
HP:0001251HP:0001251Ataxia0PIK3R5 CL E G H2353364753ORPHA124430035611317
HP:0001251HP:0001251Ataxia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM11794139039603604
HP:0001251HP:0001251Ataxia0PLEKHG4 CL E G H2589498765ORPHA124024501609526
HP:0001251HP:0001251Ataxia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13523289086300401
HP:0001251HP:0001251Ataxia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11294849115601785
HP:0001251HP:0001251Ataxia0PMPCA CL E G H232031170ORPHA1812718667613036
HP:0001251HP:0001251Ataxia0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM1246659154605610
HP:0001251HP:0001251Ataxia0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM1341637892164050
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H109081180ORPHA16166616268603197
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM16166616268603197
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA16166616268603197
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H10908245800Laurence-Moon syndrome245800C0023138OMIM16166616268603197
HP:0001251HP:0001251Ataxia0POLG CL E G H5428726ORPHA130014389179174763
HP:0001251HP:0001251Ataxia0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM130014389179174763
HP:0001251HP:0001251Ataxia0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130014389179174763
HP:0001251HP:0001251Ataxia0POLR1C CL E G H953388637ORPHA12194420194610060
HP:0001251HP:0001251Ataxia0POLR3A CL E G H1112888637ORPHA19245330074614258
HP:0001251HP:0001251Ataxia0POLR3B CL E G H5570388637ORPHA15828830348614366
HP:0001251HP:0001251Ataxia0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM1774209325600722
HP:0001251HP:0001251Ataxia0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM11842949360170280
HP:0001251HP:0001251Ataxia0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11091299449176640
HP:0001251HP:0001251Ataxia0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322979462311850
HP:0001251HP:0001251Ataxia0PRPS1 CL E G H56311187Cerebellar agenesisORPHA1322979462311850
HP:0001251HP:0001251Ataxia0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM1322979462311850
HP:0001251HP:0001251Ataxia0PRRT2 CL E G H112476569ORPHA110558930500614386
HP:0001251HP:0001251Ataxia0PRRT2 CL E G H11247631709ORPHA110558930500614386
HP:0001251HP:0001251Ataxia0PTEN CL E G H5728201ORPHA165822249588601728
HP:0001251HP:0001251Ataxia0PTEN CL E G H572865285ORPHA165822249588601728
HP:0001251HP:0001251Ataxia0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM123624265608625
HP:0001251HP:0001251Ataxia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11121539689612719
HP:0001251HP:0001251Ataxia0RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM19525929816604040
HP:0001251HP:0001251Ataxia0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11323130220611908
HP:0001251HP:0001251Ataxia0RIPK4 CL E G H541011401ORPHA116263496605706
HP:0001251HP:0001251Ataxia0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM148518466604123
HP:0001251HP:0001251Ataxia0RNF168 CL E G H165918611943Riddle syndrome611943C2677792OMIM1614226661612688
HP:0001251HP:0001251Ataxia0RNF216 CL E G H544761173CDG syndrome type 3ORPHA11413021698609948
HP:0001251HP:0001251Ataxia0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM11413021698609948
HP:0001251HP:0001251Ataxia0ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM11333729478614574
HP:0001251HP:0001251Ataxia0RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM1155810258600825
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H23322220497ORPHA15177929168610937
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15177929168610937
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA15177929168610937
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM15177929168610937
HP:0001251HP:0001251Ataxia0RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM176310297180430
HP:0001251HP:0001251Ataxia0RRM2B CL E G H50484480ORPHA14325317296604712
HP:0001251HP:0001251Ataxia0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM1411228991613516
HP:0001251HP:0001251Ataxia0SAMD9L CL E G H2192852585ORPHA1191151349611170
HP:0001251HP:0001251Ataxia0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM1191151349611170
HP:0001251HP:0001251Ataxia0SARS CL E G H6301617709NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES617709C4540188OMIM1310537607529
HP:0001251HP:0001251Ataxia0SCN1A CL E G H632333069ORPHA11611263910585182389
HP:0001251HP:0001251Ataxia0SCN1A CL E G H6323569ORPHA11611263910585182389
HP:0001251HP:0001251Ataxia0SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM11611263910585182389
HP:0001251HP:0001251Ataxia0SCN1B CL E G H632433069ORPHA13134710586600235
HP:0001251HP:0001251Ataxia0SCN2A CL E G H632633069ORPHA1268142210588182390
HP:0001251HP:0001251Ataxia0SCN8A CL E G H633431709ORPHA1103107410596600702
HP:0001251HP:0001251Ataxia0SCN9A CL E G H633533069ORPHA1129142710597603415
HP:0001251HP:0001251Ataxia0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1514110603603644
HP:0001251HP:0001251Ataxia0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM191153810680600857
HP:0001251HP:0001251Ataxia0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191153810680600857
HP:0001251HP:0001251Ataxia0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164633867612848
HP:0001251HP:0001251Ataxia0SDHB CL E G H6390201ORPHA127981910681185470
HP:0001251HP:0001251Ataxia0SDHC CL E G H6391201ORPHA16252210682602413
HP:0001251HP:0001251Ataxia0SDHD CL E G H6392201ORPHA117443810683602690
HP:0001251HP:0001251Ataxia0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117443810683602690
HP:0001251HP:0001251Ataxia0SEC23B CL E G H10483201ORPHA112621610702610512
HP:0001251HP:0001251Ataxia0SETX CL E G H2306464753ORPHA1216911445608465
HP:0001251HP:0001251Ataxia0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM1185410817603729
HP:0001251HP:0001251Ataxia0SIL1 CL E G H64374559ORPHA14920224624608005
HP:0001251HP:0001251Ataxia0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM14920224624608005
HP:0001251HP:0001251Ataxia0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM150477510912600968
HP:0001251HP:0001251Ataxia0SLC13A5 CL E G H284111615905Epileptic encephalopathy, early infantile, 25615905C4014621OMIM12142823089608305
HP:0001251HP:0001251Ataxia0SLC16A2 CL E G H656759ORPHA18827910923300095
HP:0001251HP:0001251Ataxia0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM18827910923300095
HP:0001251HP:0001251Ataxia0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM15528410933604322
HP:0001251HP:0001251Ataxia0SLC18A3 CL E G H657298914ORPHA169810936600336
HP:0001251HP:0001251Ataxia0SLC1A3 CL E G H6507209967ORPHA11817310941600111
HP:0001251HP:0001251Ataxia0SLC25A1 CL E G H657698914ORPHA12446310979190315
HP:0001251HP:0001251Ataxia0SLC2A1 CL E G H651371277ORPHA128164411005138140
HP:0001251HP:0001251Ataxia0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM128164411005138140
HP:0001251HP:0001251Ataxia0SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM128164411005138140
HP:0001251HP:0001251Ataxia0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM128164411005138140
HP:0001251HP:0001251Ataxia0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM12221329604604
HP:0001251HP:0001251Ataxia0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM159011021605634
HP:0001251HP:0001251Ataxia0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM15244817129607059
HP:0001251HP:0001251Ataxia0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12317130521611672
HP:0001251HP:0001251Ataxia0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM12732330224607882
HP:0001251HP:0001251Ataxia0SLC5A7 CL E G H6048298914ORPHA12025814025608761
HP:0001251HP:0001251Ataxia0SLC6A1 CL E G H65291942ORPHA14345711042137165
HP:0001251HP:0001251Ataxia0SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA12524927960608893
HP:0001251HP:0001251Ataxia0SLC6A5 CL E G H91523197Lateral body wall defectORPHA13321311051604159
HP:0001251HP:0001251Ataxia0SLC6A8 CL E G H653552503ORPHA113970011055300036
HP:0001251HP:0001251Ataxia0SMARCB1 CL E G H659899966ORPHA111963711103601607
HP:0001251HP:0001251Ataxia0SNAP25 CL E G H661698914ORPHA1712311132600322
HP:0001251HP:0001251Ataxia0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM1712311132600322
HP:0001251HP:0001251Ataxia0SNAP29 CL E G H934266631ORPHA11356211133604202
HP:0001251HP:0001251Ataxia0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM1406732952616663
HP:0001251HP:0001251Ataxia0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM11914014977616105
HP:0001251HP:0001251Ataxia0SOX10 CL E G H6663163746ORPHA115123611190602229
HP:0001251HP:0001251Ataxia0SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1293147911226610844
HP:0001251HP:0001251Ataxia0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1293147911226610844
HP:0001251HP:0001251Ataxia0SPR CL E G H6697612716Sepiapterin reductase deficiency612716C0268468OMIM12512411257182125
HP:0001251HP:0001251Ataxia0ST3GAL5 CL E G H8869370938ORPHA1724110872604402
HP:0001251HP:0001251Ataxia0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM134226200613128
HP:0001251HP:0001251Ataxia0STXBP1 CL E G H681233069ORPHA119570611444602926
HP:0001251HP:0001251Ataxia0SUCLA2 CL E G H88031933ORPHA12923711448603921
HP:0001251HP:0001251Ataxia0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM12815911449611224
HP:0001251HP:0001251Ataxia0SUFU CL E G H51684617757JOUBERT SYNDROME 32617757C4540342OMIM14769716466607035
HP:0001251HP:0001251Ataxia0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM15538220376607939
HP:0001251HP:0001251Ataxia0SUOX CL E G H6821272300Sulfite oxidase deficiency272300C0268624OMIM12915511460606887
HP:0001251HP:0001251Ataxia0SURF1 CL E G H6834616684Charcot-Marie-Tooth disease, type 4k616684C4225246OMIM112823811474185620
HP:0001251HP:0001251Ataxia0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112823811474185620
HP:0001251HP:0001251Ataxia0SYNE1 CL E G H2334588644ORPHA1144359317089608441
HP:0001251HP:0001251Ataxia0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM193511509185605
HP:0001251HP:0001251Ataxia0SYT2 CL E G H12783398914ORPHA137511510600104
HP:0001251HP:0001251Ataxia0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM137024316612958
HP:0001251HP:0001251Ataxia0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM1947225439616830
HP:0001251HP:0001251Ataxia0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM1826011582604934
HP:0001251HP:0001251Ataxia0TBP CL E G H690898759ORPHA11810211588600075
HP:0001251HP:0001251Ataxia0TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM14129311653613441
HP:0001251HP:0001251Ataxia0TCTN1 CL E G H79600475Acquired hypoprothrombinemiaORPHA1616026113609863
HP:0001251HP:0001251Ataxia0TCTN2 CL E G H79867475Acquired hypoprothrombinemiaORPHA11526825774613846
HP:0001251HP:0001251Ataxia0TCTN3 CL E G H261232754ORPHA11214224519613847
HP:0001251HP:0001251Ataxia0TDP1 CL E G H5577594124ORPHA1318618884607198
HP:0001251HP:0001251Ataxia0TDP1 CL E G H55775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathy607250C1846574OMIM1318618884607198
HP:0001251HP:0001251Ataxia0TDP2 CL E G H51567404493ORPHA163117768605764
HP:0001251HP:0001251Ataxia0TDP2 CL E G H51567616949Spinocerebellar ataxia, autosomal recessive 23616949C4310780OMIM163117768605764
HP:0001251HP:0001251Ataxia0TELO2 CL E G H9894616954You-Hoover-Fong syndrome616954C4310778OMIM1814029099611140
HP:0001251HP:0001251Ataxia0TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM17422711727602322
HP:0001251HP:0001251Ataxia0TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1173159711730187270
HP:0001251HP:0001251Ataxia0TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM14222911824604319
HP:0001251HP:0001251Ataxia0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM14222911824604319
HP:0001251HP:0001251Ataxia0TINF2 CL E G H26277268130Revesz syndrome268130C1327916OMIM14222911824604319
HP:0001251HP:0001251Ataxia0TMEM107 CL E G H84314617562Meckel syndrome 13617562C4539714OMIM1310028128616183
HP:0001251HP:0001251Ataxia0TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM1310028128616183
HP:0001251HP:0001251Ataxia0TMEM138 CL E G H515242318ORPHA198526944614459
HP:0001251HP:0001251Ataxia0TMEM216 CL E G H512592318ORPHA1815125018613277
HP:0001251HP:0001251Ataxia0TMEM216 CL E G H512592754ORPHA1815125018613277
HP:0001251HP:0001251Ataxia0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM1815125018613277
HP:0001251HP:0001251Ataxia0TMEM231 CL E G H795832318ORPHA11920237234614949
HP:0001251HP:0001251Ataxia0TMEM237 CL E G H65062220497ORPHA11129714432614423
HP:0001251HP:0001251Ataxia0TMEM237 CL E G H650622318ORPHA11129714432614423
HP:0001251HP:0001251Ataxia0TMEM237 CL E G H65062475Acquired hypoprothrombinemiaORPHA11129714432614423
HP:0001251HP:0001251Ataxia0TMEM237 CL E G H65062614424Joubert syndrome 14614424C3280766OMIM11129714432614423
HP:0001251HP:0001251Ataxia0TMEM67 CL E G H91147475Acquired hypoprothrombinemiaORPHA117439328396609884
HP:0001251HP:0001251Ataxia0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117439328396609884
HP:0001251HP:0001251Ataxia0TMEM67 CL E G H911471454Common atrioventricular canalC0221215ORPHA117439328396609884
HP:0001251HP:0001251Ataxia0TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM117439328396609884
HP:0001251HP:0001251Ataxia0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM11817626050612418
HP:0001251HP:0001251Ataxia0TPK1 CL E G H27010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)614458C3280866OMIM11221917358606370
HP:0001251HP:0001251Ataxia0TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM11156382073607998
HP:0001251HP:0001251Ataxia0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM11156382073607998
HP:0001251HP:0001251Ataxia0TPRKB CL E G H51002617731GALLOWAY-MOWAT SYNDROME 5617731C4540274OMIM121724259608680
HP:0001251HP:0001251Ataxia0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM11755925751614138
HP:0001251HP:0001251Ataxia0TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM133923066610397
HP:0001251HP:0001251Ataxia0TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM123512335602345
HP:0001251HP:0001251Ataxia0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM1718012367604723
HP:0001251HP:0001251Ataxia0TTPA CL E G H7274277460Ataxia with vitamin E deficiency277460C1848533OMIM13021612404600415
HP:0001251HP:0001251Ataxia0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115128012405176300
HP:0001251HP:0001251Ataxia0TUBA1A CL E G H7846611603Lissencephaly 3611603C1969029OMIM16822520766602529
HP:0001251HP:0001251Ataxia0TUBB CL E G H203068615771Cortical dysplasia, complex, with other brain malformations 6615771C4014283OMIM186520778191130
HP:0001251HP:0001251Ataxia0TUBB2B CL E G H3477331766ORPHA13013630829612850
HP:0001251HP:0001251Ataxia0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14216320774602662
HP:0001251HP:0001251Ataxia0TWNK CL E G H566521186ORPHA1832151160606075
HP:0001251HP:0001251Ataxia0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM1832151160606075
HP:0001251HP:0001251Ataxia0TWNK CL E G H56652616138Perrault syndrome 5616138C4015307OMIM1832151160606075
HP:0001251HP:0001251Ataxia0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM118829594612080
HP:0001251HP:0001251Ataxia0UROC1 CL E G H131669276880Urocanate hydratase deficiency276880C0268514OMIM137326444613012
HP:0001251HP:0001251Ataxia0USH1C CL E G H10083231169ORPHA15172612597605242
HP:0001251HP:0001251Ataxia0USH1G CL E G H124590231169ORPHA13224216356607696
HP:0001251HP:0001251Ataxia0VAMP1 CL E G H684398914ORPHA168212642185880
HP:0001251HP:0001251Ataxia0VHL CL E G H7428892Billet Bear syndromeORPHA1617134912687608537
HP:0001251HP:0001251Ataxia0VLDLR CL E G H74361766ORPHA12845112698192977
HP:0001251HP:0001251Ataxia0VPS13A CL E G H232302388ORPHA111612301908605978
HP:0001251HP:0001251Ataxia0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM11916523595608877
HP:0001251HP:0001251Ataxia0VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM11027612718602168
HP:0001251HP:0001251Ataxia0WDR73 CL E G H8494283472ORPHA11212525928616144
HP:0001251HP:0001251Ataxia0WDR81 CL E G H1249971766ORPHA11724026600614218
HP:0001251HP:0001251Ataxia0WFS1 CL E G H74663463ORPHA139385712762606201
HP:0001251HP:0001251Ataxia0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM139385712762606201
HP:0001251HP:0001251Ataxia0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15121412814611153
HP:0001251HP:0001251Ataxia0YWHAG CL E G H7532617665EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56617665C4540034OMIM155612852605356
HP:0001251HP:0001251Ataxia0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM145125120761612012
HP:0001251HP:0001251Ataxia0ZNF423 CL E G H230902318ORPHA1941916762604557
HP:0001251HP:0001251Ataxia0ZNF592 CL E G H964083472ORPHA116828986613624
HP:0001251HP:0001251Ataxia1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM17911713666605378
HP:0001251HP:0001251Ataxia1AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM13132021022612035
HP:0001251HP:0001251Ataxia1ABCB7 CL E G H222802ORPHA1924348300135
HP:0001251HP:0001251Ataxia1ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1661110859600509
HP:0001251HP:0001251Ataxia1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM12131115868613599
HP:0001251HP:0001251Ataxia1ABHD5 CL E G H5109998907ORPHA13917221396604780
HP:0001251HP:0001251Ataxia1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13917221396604780
HP:0001251HP:0001251Ataxia1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM119279118100850
HP:0001251HP:0001251Ataxia1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1553091839607575
HP:0001251HP:0001251Ataxia1AGRN CL E G H37579098914ORPHA1181303329103320
HP:0001251HP:0001251Ataxia1AHI1 CL E G H54806220493ORPHA19663421575608894
HP:0001251HP:0001251Ataxia1AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA19663421575608894
HP:0001251HP:0001251Ataxia1AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19663421575608894
HP:0001251HP:0001251Ataxia1AKT1 CL E G H207201ORPHA112379391164730
HP:0001251HP:0001251Ataxia1ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA175465408610045
HP:0001251HP:0001251Ataxia1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175465408610045
HP:0001251HP:0001251Ataxia1ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM12630623157604566
HP:0001251HP:0001251Ataxia1ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM11913896211300836
HP:0001251HP:0001251Ataxia1AP5Z1 CL E G H9907306511ORPHA11669922197613653
HP:0001251HP:0001251Ataxia1APOB CL E G H338615558Hypobetalipoproteinemia, familial, 1615558CN182502OMIM13332315603107730
HP:0001251HP:0001251Ataxia1APOPT1 CL E G H84334436271ORPHA112120492616003
HP:0001251HP:0001251Ataxia1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112120492616003
HP:0001251HP:0001251Ataxia1APTX CL E G H548401168ORPHA14623015984606350
HP:0001251HP:0001251Ataxia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14623015984606350
HP:0001251HP:0001251Ataxia1ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA11018325419608922
HP:0001251HP:0001251Ataxia1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM11018325419608922
HP:0001251HP:0001251Ataxia1ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA1363694604695
HP:0001251HP:0001251Ataxia1ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM1363694604695
HP:0001251HP:0001251Ataxia1ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA11125020730617612
HP:0001251HP:0001251Ataxia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1254723713607574
HP:0001251HP:0001251Ataxia1ARSG CL E G H22901231183ORPHA1317424102610008
HP:0001251HP:0001251Ataxia1ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM136129561611647
HP:0001251HP:0001251Ataxia1ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169418746608310
HP:0001251HP:0001251Ataxia1ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1169418746608310
HP:0001251HP:0001251Ataxia1ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157472758603470
HP:0001251HP:0001251Ataxia1ATAD1 CL E G H848963197Lateral body wall defectORPHA132725903614452
HP:0001251HP:0001251Ataxia1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM11723425567612316
HP:0001251HP:0001251Ataxia1ATM CL E G H472100ORPHA1132410266795607585
HP:0001251HP:0001251Ataxia1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM1132410266795607585
HP:0001251HP:0001251Ataxia1ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM14447930213610513
HP:0001251HP:0001251Ataxia1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM14447930213610513
HP:0001251HP:0001251Ataxia1ATP1A2 CL E G H477569ORPHA199706800182340
HP:0001251HP:0001251Ataxia1ATP1A3 CL E G H4781171ORPHA1122597801182350
HP:0001251HP:0001251Ataxia1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1122597801182350
HP:0001251HP:0001251Ataxia1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM17291816300014
HP:0001251HP:0001251Ataxia1ATP8A2 CL E G H517611766ORPHA11111913533605870
HP:0001251HP:0001251Ataxia1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM1220918802608918
HP:0001251HP:0001251Ataxia1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM112143890600529
HP:0001251HP:0001251Ataxia1B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA11019524123614144
HP:0001251HP:0001251Ataxia1B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM11019524123614144
HP:0001251HP:0001251Ataxia1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1105489966209901
HP:0001251HP:0001251Ataxia1BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1101379986608348
HP:0001251HP:0001251Ataxia1BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1115447987248611
HP:0001251HP:0001251Ataxia1BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1372461020603647
HP:0001251HP:0001251Ataxia1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1372461020603647
HP:0001251HP:0001251Ataxia1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM123524160612051
HP:0001251HP:0001251Ataxia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM15032115832606158
HP:0001251HP:0001251Ataxia1BTD CL E G H68679241ORPHA12484501122609019
HP:0001251HP:0001251Ataxia1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12484501122609019
HP:0001251HP:0001251Ataxia1C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM11126784613541
HP:0001251HP:0001251Ataxia1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM13823825443614297
HP:0001251HP:0001251Ataxia1C9orf72 CL E G H203228401901ORPHA12416028337614260
HP:0001251HP:0001251Ataxia1CA8 CL E G H7671766ORPHA14771382114815
HP:0001251HP:0001251Ataxia1CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM14771382114815
HP:0001251HP:0001251Ataxia1CACNA1A CL E G H77371518ORPHA125119631388601011
HP:0001251HP:0001251Ataxia1CACNA1A CL E G H773569ORPHA125119631388601011
HP:0001251HP:0001251Ataxia1CACNA1A CL E G H77397ORPHA125119631388601011
HP:0001251HP:0001251Ataxia1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM125119631388601011
HP:0001251HP:0001251Ataxia1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM125119631388601011
HP:0001251HP:0001251Ataxia1CC2D2A CL E G H575452318ORPHA19686529253612013
HP:0001251HP:0001251Ataxia1CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19686529253612013
HP:0001251HP:0001251Ataxia1CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA19686529253612013
HP:0001251HP:0001251Ataxia1CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0001251HP:0001251Ataxia1CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA1734324866616690
HP:0001251HP:0001251Ataxia1CEP120 CL E G H153241220493ORPHA1920026690613446
HP:0001251HP:0001251Ataxia1CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA1920026690613446
HP:0001251HP:0001251Ataxia1CEP290 CL E G H801842318ORPHA1310151729021610142
HP:0001251HP:0001251Ataxia1CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1310151729021610142
HP:0001251HP:0001251Ataxia1CEP41 CL E G H95681220493ORPHA11129712370610523
HP:0001251HP:0001251Ataxia1CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA11129712370610523
HP:0001251HP:0001251Ataxia1CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM11129712370610523
HP:0001251HP:0001251Ataxia1CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0001251HP:0001251Ataxia1CHAT CL E G H110398914ORPHA1775001912118490
HP:0001251HP:0001251Ataxia1CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM12720215559615903
HP:0001251HP:0001251Ataxia1CHD2 CL E G H11061942ORPHA16011261917602119
HP:0001251HP:0001251Ataxia1CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0001251HP:0001251Ataxia1CISD2 CL E G H4938563463ORPHA142624212611507
HP:0001251HP:0001251Ataxia1CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM1524432076608102
HP:0001251HP:0001251Ataxia1CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM1854582077606725
HP:0001251HP:0001251Ataxia1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM1444282079607837
HP:0001251HP:0001251Ataxia1CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0001251HP:0001251Ataxia1CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM114902092118955
HP:0001251HP:0001251Ataxia1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM178130013830604569
HP:0001251HP:0001251Ataxia1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM172725716615623
HP:0001251HP:0001251Ataxia1COG4 CL E G H25839263501ORPHA1620918620606976
HP:0001251HP:0001251Ataxia1COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM1620918620606976
HP:0001251HP:0001251Ataxia1COL13A1 CL E G H130598914ORPHA131752190120350
HP:0001251HP:0001251Ataxia1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1367512195120328
HP:0001251HP:0001251Ataxia1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13313425223609825
HP:0001251HP:0001251Ataxia1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM14336316812606980
HP:0001251HP:0001251Ataxia1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132452260602125
HP:0001251HP:0001251Ataxia1COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132452260602125
HP:0001251HP:0001251Ataxia1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111928216614478
HP:0001251HP:0001251Ataxia1COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM152152263603646
HP:0001251HP:0001251Ataxia1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1113726970614698
HP:0001251HP:0001251Ataxia1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13422280124089
HP:0001251HP:0001251Ataxia1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11162294123870
HP:0001251HP:0001251Ataxia1CP CL E G H135648818ORPHA1604652295117700
HP:0001251HP:0001251Ataxia1CPLANE1 CL E G H652502754ORPHA111880625801614571
HP:0001251HP:0001251Ataxia1CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA111880625801614571
HP:0001251HP:0001251Ataxia1CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM111880625801614571
HP:0001251HP:0001251Ataxia1CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM12768072323608307
HP:0001251HP:0001251Ataxia1CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA12745726193611654
HP:0001251HP:0001251Ataxia1CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM12745726193611654
HP:0001251HP:0001251Ataxia1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM1152212482601145
HP:0001251HP:0001251Ataxia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM13472226169613129
HP:0001251HP:0001251Ataxia1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM113222498604927
HP:0001251HP:0001251Ataxia1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM16852510114025
HP:0001251HP:0001251Ataxia1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1194102529116840
HP:0001251HP:0001251Ataxia1CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM1111192531603539
HP:0001251HP:0001251Ataxia1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11164392605606530
HP:0001251HP:0001251Ataxia1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM12782661603448
HP:0001251HP:0001251Ataxia1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16522025538610956
HP:0001251HP:0001251Ataxia1DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM1784652698248610
HP:0001251HP:0001251Ataxia1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM11423522714300121
HP:0001251HP:0001251Ataxia1DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM192752861126060
HP:0001251HP:0001251Ataxia1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM163716716616423
HP:0001251HP:0001251Ataxia1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM151622896608770
HP:0001251HP:0001251Ataxia1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM1233272898238331
HP:0001251HP:0001251Ataxia1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM191572938612186
HP:0001251HP:0001251Ataxia1DNAJC19 CL E G H13111866634ORPHA167530528608977
HP:0001251HP:0001251Ataxia1DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM1233316235611203
HP:0001251HP:0001251Ataxia1DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM1237312976126375
HP:0001251HP:0001251Ataxia1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191553005603503
HP:0001251HP:0001251Ataxia1EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1702183180131244
HP:0001251HP:0001251Ataxia1ELP1 CL E G H85181764ORPHA1610515959603722
HP:0001251HP:0001251Ataxia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0001251HP:0001251Ataxia1ERCC2 CL E G H2068220295ORPHA11083193434126340
HP:0001251HP:0001251Ataxia1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11083193434126340
HP:0001251HP:0001251Ataxia1ERCC3 CL E G H2071220295ORPHA1201713435133510
HP:0001251HP:0001251Ataxia1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM1201713435133510
HP:0001251HP:0001251Ataxia1ERCC4 CL E G H2072220295ORPHA1724503436133520
HP:0001251HP:0001251Ataxia1ERCC5 CL E G H2073220295ORPHA1593363437133530
HP:0001251HP:0001251Ataxia1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11408153438609413
HP:0001251HP:0001251Ataxia1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11408153438609413
HP:0001251HP:0001251Ataxia1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1703093439609412
HP:0001251HP:0001251Ataxia1ETHE1 CL E G H2347451188ORPHA13720323287608451
HP:0001251HP:0001251Ataxia1ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM13720323287608451
HP:0001251HP:0001251Ataxia1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1326729160612322
HP:0001251HP:0001251Ataxia1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM11732424682609144
HP:0001251HP:0001251Ataxia1FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM125725491616305
HP:0001251HP:0001251Ataxia1FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM1629529007300838
HP:0001251HP:0001251Ataxia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM1641033999134790
HP:0001251HP:0001251Ataxia1GABRA1 CL E G H255433069ORPHA1484094075137160
HP:0001251HP:0001251Ataxia1GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM15494081137190
HP:0001251HP:0001251Ataxia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM1163104082600232
HP:0001251HP:0001251Ataxia1GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM1676324083137192
HP:0001251HP:0001251Ataxia1GABRG2 CL E G H256633069ORPHA1474104087137164
HP:0001251HP:0001251Ataxia1GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM1603794136601240
HP:0001251HP:0001251Ataxia1GBA CL E G H262977261ORPHA14942454177606463
HP:0001251HP:0001251Ataxia1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14942454177606463
HP:0001251HP:0001251Ataxia1GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM11352724235137780
HP:0001251HP:0001251Ataxia1GJA1 CL E G H26972710Hm syndromeORPHA11091624274121014
HP:0001251HP:0001251Ataxia1GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091624274121014
HP:0001251HP:0001251Ataxia1GJC2 CL E G H57165320401ORPHA15716717494608803
HP:0001251HP:0001251Ataxia1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15716717494608803
HP:0001251HP:0001251Ataxia1GLB1 CL E G H2720230600GM1 gangliosidosis type 2230600C0268272OMIM12315024298611458
HP:0001251HP:0001251Ataxia1GLRA1 CL E G H27413197Lateral body wall defectORPHA1722944326138491
HP:0001251HP:0001251Ataxia1GLRB CL E G H27433197Lateral body wall defectORPHA1191564329138492
HP:0001251HP:0001251Ataxia1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM14919722932615320
HP:0001251HP:0001251Ataxia1GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM152104431604027
HP:0001251HP:0001251Ataxia1GPHN CL E G H102433197Lateral body wall defectORPHA12026115465603930
HP:0001251HP:0001251Ataxia1GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM142674458172400
HP:0001251HP:0001251Ataxia1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM12312954601138945
HP:0001251HP:0001251Ataxia1GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM1401224624601002
HP:0001251HP:0001251Ataxia1HACE1 CL E G H57531464282ORPHA1137321033610876
HP:0001251HP:0001251Ataxia1HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM1137321033610876
HP:0001251HP:0001251Ataxia1HARS CL E G H3035231183ORPHA1134816142810
HP:0001251HP:0001251Ataxia1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM12820126361611642
HP:0001251HP:0001251Ataxia1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM12820126361611642
HP:0001251HP:0001251Ataxia1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11263574879606873
HP:0001251HP:0001251Ataxia1HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141845042300610
HP:0001251HP:0001251Ataxia1HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM1541629476602194
HP:0001251HP:0001251Ataxia1HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA1217126558610693
HP:0001251HP:0001251Ataxia1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17283729077614620
HP:0001251HP:0001251Ataxia1INPP5E CL E G H56623220493ORPHA15446121474613037
HP:0001251HP:0001251Ataxia1INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA15446121474613037