Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the metencephalon (HP:0011283)help
Parent Node:
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Abnormality of coordination (HP:0011443)help
Parent Node:
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Abnormality of the cerebellum (HP:0001317)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:

 HPO-Disease-Gene Association for HP:0001251 and all of its descedant HPO terms  

InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameConceptIDSourceHGMD variantsClinVar variants
HP:0001251HP:0001251Ataxia0AAAS8086231550Glucocorticoid deficiency with achalasiaC0271742OMIM7557
HP:0001251HP:0001251Ataxia0AARS257505615889Leukoencephalopathy, progressive, with ovarian failureC4014588OMIM26143
HP:0001251HP:0001251Ataxia0ABCC86833240800Leucine-induced hypoglycemiaC0271714OMIM612245
HP:0001251HP:0001251Ataxia0ABHD551099275630Triglyceride storage disease with ichthyosisC0268238OMIM3690
HP:0001251HP:0001251Ataxia0ACO250614559Infantile cerebellar-retinal degenerationC3281192OMIM1260
HP:0001251HP:0001251Ataxia0ADA251816615688Polyarteritis nodosaC0031036OMIM3122
HP:0001251HP:0001251Ataxia0AHI154806475Acquired hypoprothrombinemiaORPHA84175
HP:0001251HP:0001251Ataxia0AHI154806608629Joubert syndrome 3C1837713OMIM84175
HP:0001251HP:0001251Ataxia0AHI154806220493Joubert syndrome with ocular defectORPHA84175
HP:0001251HP:0001251Ataxia0AKT1207201Cowden syndromeORPHA954
HP:0001251HP:0001251Ataxia0ALDH5A179152222q13.3 deletion syndromeC1853490ORPHA71108
HP:0001251HP:0001251Ataxia0ALDH5A17915271980Succinate-semialdehyde dehydrogenase deficiencyC0268631OMIM71108
HP:0001251HP:0001251Ataxia0ALG629929603147Congenital disorder of glycosylation type 1CC1864178OMIM2666
HP:0001251HP:0001251Ataxia0ANOS13730308700Kallmann syndrome 1C1563719OMIM17765
HP:0001251HP:0001251Ataxia0APOB338615558Hypobetalipoproteinemia, familial, 1CN182502OMIM272356
HP:0001251HP:0001251Ataxia0APOPT184334220110Cytochrome-c oxidase deficiencyC0268237OMIM517
HP:0001251HP:0001251Ataxia0APTX54840208920Adult onset ataxia with oculomotor apraxiaC1859598OMIM4061
HP:0001251HP:0001251Ataxia0APTX548401168Ataxia-oculomotor apraxia type 1ORPHA4061
HP:0001251HP:0001251Ataxia0ARL13B200894475Acquired hypoprothrombinemiaORPHA962
HP:0001251HP:0001251Ataxia0ARSA410250100Metachromatic leukodystrophyC0023522OMIM217253
HP:0001251HP:0001251Ataxia0ASL435207900Argininosuccinate lyase deficiencyC0268547OMIM15181
HP:0001251HP:0001251Ataxia0ASL43523Blepharophimosis syndrome type 1C2931135ORPHA15181
HP:0001251HP:0001251Ataxia0ASS1445215700Citrullinemia type IC0175683OMIM153119
HP:0001251HP:0001251Ataxia0ATM472100Ataxia-telangiectasiaORPHA9023267
HP:0001251HP:0001251Ataxia0ATM472208900Ataxia-telangiectasia syndromeC0004135OMIM9023267
HP:0001251HP:0001251Ataxia0ATP1A2477569Familial or sporadic hemiplegic migraineORPHA85239
HP:0001251HP:0001251Ataxia0ATP1A3478614820Alternating hemiplegia of childhood 2C3553788OMIM100150
HP:0001251HP:0001251Ataxia0ATP64508535000Leber's optic atrophyC0917796OMIM
HP:0001251HP:0001251Ataxia0ATP64508551500Neuropathy ataxia retinitis pigmentosa syndromeC1838914OMIM
HP:0001251HP:0001251Ataxia0ATP84509480Acrorenal mandibular syndromeC1860166ORPHA
HP:0001251HP:0001251Ataxia0ATP8A2517611766Dysequilibrium syndromeORPHA624
HP:0001251HP:0001251Ataxia0ATPAF291647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1C2700431OMIM132
HP:0001251HP:0001251Ataxia0AUH5492509503-Methylglutaconic aciduriaC0342727OMIM1149
HP:0001251HP:0001251Ataxia0B9D127077475Acquired hypoprothrombinemiaORPHA928
HP:0001251HP:0001251Ataxia0BBS1582209900Bardet-Biedl syndromeC0752166OMIM99114
HP:0001251HP:0001251Ataxia0BBS4585209900Bardet-Biedl syndromeC0752166OMIM5087
HP:0001251HP:0001251Ataxia0BCKDHA593248600Maple syrup urine diseaseC0024776OMIM91120
HP:0001251HP:0001251Ataxia0BCKDHB594248600Maple syrup urine diseaseC0024776OMIM94162
HP:0001251HP:0001251Ataxia0BCS1L617256000Leigh syndromeC0023264OMIM3772
HP:0001251HP:0001251Ataxia0BCS1L617124000Mitochondrial complex III deficiencyC1852372OMIM3772
HP:0001251HP:0001251Ataxia0BEAN1146227117210Spinocerebellar ataxia 31C1861736OMIM21
HP:0001251HP:0001251Ataxia0BSCL226580615924Encephalopathy, progressive, with or without lipodystrophyC4014700OMIM45105
HP:0001251HP:0001251Ataxia0BTD68679241Biotinidase deficiencyORPHA233223
HP:0001251HP:0001251Ataxia0BTD686253260Biotinidase deficiencyC0220754OMIM233223
HP:0001251HP:0001251Ataxia0C12ORF65915741239Behr syndromeORPHA1040
HP:0001251HP:0001251Ataxia0C12ORF6591574613559Combined oxidative phosphorylation deficiency 7C3150801OMIM1040
HP:0001251HP:0001251Ataxia0C19ORF1283636614298Neurodegeneration with brain iron accumulation 4C3280371OMIM36114
HP:0001251HP:0001251Ataxia0C5ORF4265250475Acquired hypoprothrombinemiaORPHA97237
HP:0001251HP:0001251Ataxia0C5ORF4265250614615Joubert syndrome 17C3553264OMIM97237
HP:0001251HP:0001251Ataxia0CA8767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3C2750509OMIM48
HP:0001251HP:0001251Ataxia0CA87671766Dysequilibrium syndromeORPHA48
HP:0001251HP:0001251Ataxia0CACNA1A773141500Familial hemiplegic migraine type 1C1832894OMIM189449
HP:0001251HP:0001251Ataxia0CACNA1A773569Familial or sporadic hemiplegic migraineORPHA189449
HP:0001251HP:0001251Ataxia0CC2D2A57545216360COACH syndromeC1857662OMIM83247
HP:0001251HP:0001251Ataxia0CC2D2A575451454Common atrioventricular canalC0221215ORPHA83247
HP:0001251HP:0001251Ataxia0CC2D2A575452318Joubert syndrome with oculorenal defectORPHA83247
HP:0001251HP:0001251Ataxia0CDH2364072231169Usher syndrome type 1ORPHA303636
HP:0001251HP:0001251Ataxia0CEP1049731475Acquired hypoprothrombinemiaORPHA45
HP:0001251HP:0001251Ataxia0CEP120153241475Acquired hypoprothrombinemiaORPHA97
HP:0001251HP:0001251Ataxia0CEP120153241220493Joubert syndrome with ocular defectORPHA97
HP:0001251HP:0001251Ataxia0CEP29080184610188Joubert syndrome 5C1857780OMIM265342
HP:0001251HP:0001251Ataxia0CEP290801842318Joubert syndrome with oculorenal defectORPHA265342
HP:0001251HP:0001251Ataxia0CEP4195681475Acquired hypoprothrombinemiaORPHA1090
HP:0001251HP:0001251Ataxia0CEP4195681614464Joubert syndrome 15C3280897OMIM1090
HP:0001251HP:0001251Ataxia0CEP4195681220493Joubert syndrome with ocular defectORPHA1090
HP:0001251HP:0001251Ataxia0CHCHD10400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2C4014648OMIM1811
HP:0001251HP:0001251Ataxia0CHD211061942Myoclonic-astastic epilepsyORPHA39227
HP:0001251HP:0001251Ataxia0CIB210518231169Usher syndrome type 1ORPHA1515
HP:0001251HP:0001251Ataxia0CISD24938563463Wolfram syndromeORPHA43
HP:0001251HP:0001251Ataxia0CLN654982204300Adult neuronal ceroid lipofuscinosisC0022797OMIM80143
HP:0001251HP:0001251Ataxia0CLN82055600143Ceroid lipofuscinosis neuronal 8C1838570OMIM41111
HP:0001251HP:0001251Ataxia0CLRN17401231183Usher syndrome type 3ORPHA3360
HP:0001251HP:0001251Ataxia0COA5493753220110Cytochrome-c oxidase deficiencyC0268237OMIM12
HP:0001251HP:0001251Ataxia0COG425839613489Congenital disorder of glycosylation type 2JC3150736OMIM467
HP:0001251HP:0001251Ataxia0COL18A180781267750Knobloch syndrome 1C1849409OMIM29177
HP:0001251HP:0001251Ataxia0COQ227235607426Coenzyme Q10 deficiency, primary 1C1843920OMIM2954
HP:0001251HP:0001251Ataxia0COQ8A56997612016Coenzyme Q10 deficiency, primary, 4C2677589OMIM37136
HP:0001251HP:0001251Ataxia0COX14512550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0COX101352220110Cytochrome-c oxidase deficiencyC0268237OMIM1382
HP:0001251HP:0001251Ataxia0COX101352256000Leigh syndromeC0023264OMIM1382
HP:0001251HP:0001251Ataxia0COX1484987220110Cytochrome-c oxidase deficiencyC0268237OMIM14
HP:0001251HP:0001251Ataxia0COX151355256000Leigh syndromeC0023264OMIM5104
HP:0001251HP:0001251Ataxia0COX24513550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0COX20116228220110Cytochrome-c oxidase deficiencyC0268237OMIM125
HP:0001251HP:0001251Ataxia0COX34514550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0COX34514535000Leber's optic atrophyC0917796OMIM
HP:0001251HP:0001251Ataxia0COX6B11340220110Cytochrome-c oxidase deficiencyC0268237OMIM310
HP:0001251HP:0001251Ataxia0CP135648818AceruloplasminemiaORPHA51115
HP:0001251HP:0001251Ataxia0CP1356604290Deficiency of ferroxidaseC0878682OMIM51115
HP:0001251HP:0001251Ataxia0CPS11373237300Congenital hyperammonemia, type IC0751753OMIM261124
HP:0001251HP:0001251Ataxia0CSPP179848475Acquired hypoprothrombinemiaORPHA2557
HP:0001251HP:0001251Ataxia0CSPP179848615636Joubert syndrome 21C3810212OMIM2557
HP:0001251HP:0001251Ataxia0CSTB1476254800Unverricht-Lundborg syndromeC0751785OMIM1451
HP:0001251HP:0001251Ataxia0CTC180169612199Cerebroretinal microangiopathy with calcifications and cystsC2677299OMIM29160
HP:0001251HP:0001251Ataxia0CTDP19150604168Congenital Cataracts, Facial Dysmorphism, and NeuropathyC1858726OMIM117
HP:0001251HP:0001251Ataxia0CTSD1509610127Ceroid lipofuscinosis neuronal 10C1864669OMIM15159
HP:0001251HP:0001251Ataxia0CTSF8722615362Ceroid lipofuscinosis, neuronal, 13C3715049OMIM920
HP:0001251HP:0001251Ataxia0CYP27A11593213700Cholestanol storage diseaseC0238052OMIM103114
HP:0001251HP:0001251Ataxia0CYTB4519535000Leber's optic atrophyC0917796OMIM
HP:0001251HP:0001251Ataxia0DARS255157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate ElevationC1970180OMIM5960
HP:0001251HP:0001251Ataxia0DBT1629248600Maple syrup urine diseaseC0024776OMIM71156
HP:0001251HP:0001251Ataxia0DCX1641300067Lissencephaly, X-linkedC1848199OMIM138145
HP:0001251HP:0001251Ataxia0DHFR1719613839Megaloblastic anemia due to dihydrofolate reductase deficiencyC3151205OMIM67
HP:0001251HP:0001251Ataxia0DLAT1737245348Pyruvate dehydrogenase E2 deficiencyC1855565OMIM482
HP:0001251HP:0001251Ataxia0DLD1738246900Maple syrup urine disease, type 3CN043137OMIM2289
HP:0001251HP:0001251Ataxia0DMXL223312616113Polyendocrine-polyneuropathy syndromeC4015261OMIM13
HP:0001251HP:0001251Ataxia0DNMT11786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantC1858804OMIM20145
HP:0001251HP:0001251Ataxia0DPM18813608799Congenital disorder of glycosylation type 1EC1837396OMIM927
HP:0001251HP:0001251Ataxia0EDNRB1910277580Waardenburg syndrome type 4AC1848519OMIM6755
HP:0001251HP:0001251Ataxia0ERCC22068278730Xeroderma pigmentosum, group DC0268138OMIM94106
HP:0001251HP:0001251Ataxia0ERCC22068220295Xeroderma pigmentosum-Cockayne syndrome complexORPHA94106
HP:0001251HP:0001251Ataxia0ERCC32071610651Xeroderma pigmentosum, complementation group bC1970808OMIM1754
HP:0001251HP:0001251Ataxia0ERCC32071220295Xeroderma pigmentosum-Cockayne syndrome complexORPHA1754
HP:0001251HP:0001251Ataxia0ERCC42072220295Xeroderma pigmentosum-Cockayne syndrome complexORPHA39158
HP:0001251HP:0001251Ataxia0ERCC52073220295Xeroderma pigmentosum-Cockayne syndrome complexORPHA5383
HP:0001251HP:0001251Ataxia0ERCC62074133540Cockayne syndrome BC0751038OMIM96199
HP:0001251HP:0001251Ataxia0ERCC62074278800DE SANCTIS-CACCHIONE SYNDROMEC0265201OMIM96199
HP:0001251HP:0001251Ataxia0ERCC81161216400Cockayne syndrome type AC0751039OMIM4155
HP:0001251HP:0001251Ataxia0ETHE123474602473Ethylmalonic encephalopathyC1865349OMIM3442
HP:0001251HP:0001251Ataxia0FASTKD222868220110Cytochrome-c oxidase deficiencyC0268237OMIM2122
HP:0001251HP:0001251Ataxia0FOXRED155572256000Leigh syndromeC0023264OMIM761
HP:0001251HP:0001251Ataxia0FOXRED155572252010Mitochondrial complex I deficiencyC1838979OMIM761
HP:0001251HP:0001251Ataxia0FTL2512606159NeuroferritinopathyC1853578OMIM6133
HP:0001251HP:0001251Ataxia0GABRA1255433069Dravet syndromeORPHA35134
HP:0001251HP:0001251Ataxia0GABRG2256633069Dravet syndromeORPHA33139
HP:0001251HP:0001251Ataxia0GAMT2593612736Deficiency of guanidinoacetate methyltransferaseC0574080OMIM5391
HP:0001251HP:0001251Ataxia0GBA262977261Gaucher disease type 3ORPHA460108
HP:0001251HP:0001251Ataxia0GBA2629231000Subacute neuronopathic Gaucher's diseaseC0268251OMIM460108
HP:0001251HP:0001251Ataxia0GFAP2670203450Alexander's diseaseC0270726OMIM115188
HP:0001251HP:0001251Ataxia0GJA126972710Hm syndromeORPHA10568
HP:0001251HP:0001251Ataxia0GJA12697164200Oculodentodigital dysplasiaC0812437OMIM10568
HP:0001251HP:0001251Ataxia0GJC257165608804Leukodystrophy, hypomyelinating, 2C1837355OMIM5337
HP:0001251HP:0001251Ataxia0GLB12720230600GM1 gangliosidosis type 2C0268272OMIM213120
HP:0001251HP:0001251Ataxia0GMPPB29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14C3809216OMIM2934
HP:0001251HP:0001251Ataxia0GOSR29570614018Epilepsy, progressive myoclonic 6C3279627OMIM388
HP:0001251HP:0001251Ataxia0GPI2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiencyC3150730OMIM3712
HP:0001251HP:0001251Ataxia0GRN2896614706Ceroid lipofuscinosis, neuronal, 11C3539123OMIM170126
HP:0001251HP:0001251Ataxia0GSS2937266130Gluthathione synthetase deficiencyC0398746OMIM3439
HP:0001251HP:0001251Ataxia0HARS3035231183Usher syndrome type 3ORPHA1033
HP:0001251HP:0001251Ataxia0HEPACAM220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1C1858854OMIM2382
HP:0001251HP:0001251Ataxia0HEPACAM220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2aC3151355OMIM2382
HP:0001251HP:0001251Ataxia0HEXB3074268800Sandhoff diseaseC0036161OMIM10880
HP:0001251HP:0001251Ataxia0HTRA15654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathyC1838577OMIM3334
HP:0001251HP:0001251Ataxia0HYLS1219844475Acquired hypoprothrombinemiaORPHA231
HP:0001251HP:0001251Ataxia0IFT1409742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasiaC1849437OMIM49148
HP:0001251HP:0001251Ataxia0IKBKAP85181764Familial dysautonomiaORPHA4
HP:0001251HP:0001251Ataxia0INPP5E56623475Acquired hypoprothrombinemiaORPHA42111
HP:0001251HP:0001251Ataxia0INPP5E566231454Common atrioventricular canalC0221215ORPHA42111
HP:0001251HP:0001251Ataxia0INPP5E56623213300Joubert syndrome 1CN119531OMIM42111
HP:0001251HP:0001251Ataxia0INPP5E56623220493Joubert syndrome with ocular defectORPHA42111
HP:0001251HP:0001251Ataxia0ITM2B9445117300Dementia, familial DanishC1861735OMIM33
HP:0001251HP:0001251Ataxia0ITPR13708206700Aniridia, cerebellar ataxia, and mental retardationC0431401OMIM68177
HP:0001251HP:0001251Ataxia0ITPR137081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA68177
HP:0001251HP:0001251Ataxia0KCNA13736972Brachydactyly preaxial with hallux varus and thumb abductionC1862162ORPHA38145
HP:0001251HP:0001251Ataxia0KCNA23737616366Epileptic encephalopathy, early infantile, 32C4225350OMIM1213
HP:0001251HP:0001251Ataxia0KCNJ103766199343EAST syndromeORPHA27121
HP:0001251HP:0001251Ataxia0KIAA055623247475Acquired hypoprothrombinemiaORPHA21
HP:0001251HP:0001251Ataxia0KIAA05869786475Acquired hypoprothrombinemiaORPHA2824
HP:0001251HP:0001251Ataxia0KLLN100144748201Cowden syndromeORPHA81
HP:0001251HP:0001251Ataxia0LETM13954280Halal Setton Wang syndromeORPHA32
HP:0001251HP:0001251Ataxia0LMBRD15578879284Methylmalonic acidemia with homocystinuria type cblFORPHA946
HP:0001251HP:0001251Ataxia0LMNB1400199027Adult-onset autosomal dominant leukodystrophyORPHA3344
HP:0001251HP:0001251Ataxia0LMNB14001169500Leukodystrophy, adult-onset, autosomal dominantC1868512OMIM3344
HP:0001251HP:0001251Ataxia0LRPPRC10128220111Leigh syndrome, French Canadian typeC1857355OMIM15191
HP:0001251HP:0001251Ataxia0MBD5557772284022q23.1 microdeletion syndromeORPHA79252
HP:0001251HP:0001251Ataxia0MBD555777156200Mental retardation, autosomal dominant 1C1969562OMIM79252
HP:0001251HP:0001251Ataxia0MCOLN157192578Akesson syndromeORPHA3278
HP:0001251HP:0001251Ataxia0MECP24204300260MECP2 duplication syndromeC1846058OMIM960950
HP:0001251HP:0001251Ataxia0MECP24204300055Mental retardation, X-linked, syndromic 13C1968550OMIM960950
HP:0001251HP:0001251Ataxia0MECP24204778Rett syndromeC0035372ORPHA960950
HP:0001251HP:0001251Ataxia0MFSD8256471610951Ceroid lipofuscinosis neuronal 7C1838571OMIM41120
HP:0001251HP:0001251Ataxia0MKKS8195209900Bardet-Biedl syndromeC0752166OMIM5769
HP:0001251HP:0001251Ataxia0MKS154903475Acquired hypoprothrombinemiaORPHA48127
HP:0001251HP:0001251Ataxia0MKS154903220493Joubert syndrome with ocular defectORPHA48127
HP:0001251HP:0001251Ataxia0MLC123209604004Megalencephalic leukoencephalopathy with subcortical cysts 1C1858854OMIM111112
HP:0001251HP:0001251Ataxia0MPDU19526609180Congenital disorder of glycosylation type 1FC1836669OMIM532
HP:0001251HP:0001251Ataxia0MPV174358256810Navajo neurohepatopathyC1850406OMIM4056
HP:0001251HP:0001251Ataxia0MTTP4547200100AbetalipoproteinaemiaC0000744OMIM7281
HP:0001251HP:0001251Ataxia0MTTP454714Bilateral squintCN228276ORPHA7281
HP:0001251HP:0001251Ataxia0MVK459829CHARGE associationC0265354ORPHA170150
HP:0001251HP:0001251Ataxia0MYO5A464479476Griscelli disease type 1ORPHA435
HP:0001251HP:0001251Ataxia0MYO7A4647231169Usher syndrome type 1ORPHA421516
HP:0001251HP:0001251Ataxia0NANS54187610442Spondyloepimetaphyseal dysplasia Genevieve typeC1864872OMIM128
HP:0001251HP:0001251Ataxia0ND14535550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0ND14535535000Leber's optic atrophyC0917796OMIM
HP:0001251HP:0001251Ataxia0ND24536535000Leber's optic atrophyC0917796OMIM
HP:0001251HP:0001251Ataxia0ND44538550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0ND44538535000Leber's optic atrophyC0917796OMIM
HP:0001251HP:0001251Ataxia0ND4L4539535000Leber's optic atrophyC0917796OMIM
HP:0001251HP:0001251Ataxia0ND54540550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0ND54540535000Leber's optic atrophyC0917796OMIM
HP:0001251HP:0001251Ataxia0ND54540551MERRFORPHA
HP:0001251HP:0001251Ataxia0ND64541550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0ND64541535000Leber's optic atrophyC0917796OMIM
HP:0001251HP:0001251Ataxia0NDUFA14694252010Mitochondrial complex I deficiencyC1838979OMIM57
HP:0001251HP:0001251Ataxia0NDUFA104705256000Leigh syndromeC0023264OMIM591
HP:0001251HP:0001251Ataxia0NDUFA11126328252010Mitochondrial complex I deficiencyC1838979OMIM132
HP:0001251HP:0001251Ataxia0NDUFA1255967256000Leigh syndromeC0023264OMIM17
HP:0001251HP:0001251Ataxia0NDUFA24695256000Leigh syndromeC0023264OMIM419
HP:0001251HP:0001251Ataxia0NDUFA94704256000Leigh syndromeC0023264OMIM127
HP:0001251HP:0001251Ataxia0NDUFAF151103252010Mitochondrial complex I deficiencyC1838979OMIM740
HP:0001251HP:0001251Ataxia0NDUFAF291942256000Leigh syndromeC0023264OMIM826
HP:0001251HP:0001251Ataxia0NDUFAF291942252010Mitochondrial complex I deficiencyC1838979OMIM826
HP:0001251HP:0001251Ataxia0NDUFAF325915252010Mitochondrial complex I deficiencyC1838979OMIM531
HP:0001251HP:0001251Ataxia0NDUFAF429078252010Mitochondrial complex I deficiencyC1838979OMIM250
HP:0001251HP:0001251Ataxia0NDUFAF579133252010Mitochondrial complex I deficiencyC1838979OMIM1034
HP:0001251HP:0001251Ataxia0NDUFAF6137682256000Leigh syndromeC0023264OMIM839
HP:0001251HP:0001251Ataxia0NDUFB34709252010Mitochondrial complex I deficiencyC1838979OMIM29
HP:0001251HP:0001251Ataxia0NDUFB94715252010Mitochondrial complex I deficiencyC1838979OMIM216
HP:0001251HP:0001251Ataxia0NDUFS14719252010Mitochondrial complex I deficiencyC1838979OMIM1981
HP:0001251HP:0001251Ataxia0NDUFS24720252010Mitochondrial complex I deficiencyC1838979OMIM2265
HP:0001251HP:0001251Ataxia0NDUFS34722256000Leigh syndromeC0023264OMIM322
HP:0001251HP:0001251Ataxia0NDUFS34722252010Mitochondrial complex I deficiencyC1838979OMIM322
HP:0001251HP:0001251Ataxia0NDUFS44724256000Leigh syndromeC0023264OMIM1627
HP:0001251HP:0001251Ataxia0NDUFS44724252010Mitochondrial complex I deficiencyC1838979OMIM1627
HP:0001251HP:0001251Ataxia0NDUFS64726252010Mitochondrial complex I deficiencyC1838979OMIM421
HP:0001251HP:0001251Ataxia0NDUFS7374291256000Leigh syndromeC0023264OMIM838
HP:0001251HP:0001251Ataxia0NDUFS84728256000Leigh syndromeC0023264OMIM1242
HP:0001251HP:0001251Ataxia0NDUFV14723252010Mitochondrial complex I deficiencyC1838979OMIM3274
HP:0001251HP:0001251Ataxia0NDUFV24729252010Mitochondrial complex I deficiencyC1838979OMIM427
HP:0001251HP:0001251Ataxia0NELFA7469280Halal Setton Wang syndromeORPHA4
HP:0001251HP:0001251Ataxia0NEU14758812Sialidosis type 1ORPHA5943
HP:0001251HP:0001251Ataxia0NF24771637Amaurosis congenita cone-rod type with congenital hypertrichosisC1859843ORPHA426220
HP:0001251HP:0001251Ataxia0NKX2-17080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distressC1970269OMIM12451
HP:0001251HP:0001251Ataxia0NME14830256700NeuroblastomaC0027819OMIM1
HP:0001251HP:0001251Ataxia0NPC14864257220Niemann-Pick disease type C1C3179455OMIM445258
HP:0001251HP:0001251Ataxia0NPC210577607625Niemann-Pick disease type C2C1843366OMIM2733
HP:0001251HP:0001251Ataxia0NPHP14867609583Joubert syndrome 4C1846790OMIM6985
HP:0001251HP:0001251Ataxia0NPHP14867220497Joubert syndrome with renal defectORPHA6985
HP:0001251HP:0001251Ataxia0NSD27468280Halal Setton Wang syndromeORPHA7118
HP:0001251HP:0001251Ataxia0NUBPL80224252010Mitochondrial complex I deficiencyC1838979OMIM989
HP:0001251HP:0001251Ataxia0OFD184812750Trochlea of the humerus aplasia ofC1860773ORPHA155201
HP:0001251HP:0001251Ataxia0OGDH496731Serpiginous choroiditisORPHA
HP:0001251HP:0001251Ataxia0OPA14976210000Abortive cerebellar ataxiaC0221061OMIM371214
HP:0001251HP:0001251Ataxia0OPA149761239Behr syndromeORPHA371214
HP:0001251HP:0001251Ataxia0OPA3802072585013-Methylglutaconic aciduria type 3C0574084OMIM15163
HP:0001251HP:0001251Ataxia0OPA380207670473-methylglutaconic aciduria type 3ORPHA15163
HP:0001251HP:0001251Ataxia0PANK280025234200Pigmentary pallidal degenerationC0018523OMIM15355
HP:0001251HP:0001251Ataxia0PAX65080206700Aniridia, cerebellar ataxia, and mental retardationC0431401OMIM474194
HP:0001251HP:0001251Ataxia0PAX650801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA474194
HP:0001251HP:0001251Ataxia0PCDH1565217231169Usher syndrome type 1ORPHA101352
HP:0001251HP:0001251Ataxia0PCDH195752633069Dravet syndromeORPHA154225
HP:0001251HP:0001251Ataxia0PCNA5111615919Ataxia-telangiectasia-like disorder 2C4014676OMIM11
HP:0001251HP:0001251Ataxia0PDHX8050245349Pyruvate dehydrogenase E3-binding protein deficiencyC1855553OMIM2298
HP:0001251HP:0001251Ataxia0PET100100131801220110Cytochrome-c oxidase deficiencyC0268237OMIM26
HP:0001251HP:0001251Ataxia0PEX15189772Infantile Refsum diseaseORPHA123169
HP:0001251HP:0001251Ataxia0PEX105192772Infantile Refsum diseaseORPHA3075
HP:0001251HP:0001251Ataxia0PEX105192614871Peroxisome biogenesis disorder 6BC3553948OMIM3075
HP:0001251HP:0001251Ataxia0PEX11B8799772Infantile Refsum diseaseORPHA54
HP:0001251HP:0001251Ataxia0PEX125193772Infantile Refsum diseaseORPHA3465
HP:0001251HP:0001251Ataxia0PEX135194772Infantile Refsum diseaseORPHA1066
HP:0001251HP:0001251Ataxia0PEX145195772Infantile Refsum diseaseORPHA446
HP:0001251HP:0001251Ataxia0PEX169409772Infantile Refsum diseaseORPHA1259
HP:0001251HP:0001251Ataxia0PEX169409614877Peroxisome biogenesis disorder 8BC3553960OMIM1259
HP:0001251HP:0001251Ataxia0PEX195824772Infantile Refsum diseaseORPHA362
HP:0001251HP:0001251Ataxia0PEX25828772Infantile Refsum diseaseORPHA1882
HP:0001251HP:0001251Ataxia0PEX2655670772Infantile Refsum diseaseORPHA23106
HP:0001251HP:0001251Ataxia0PEX38504772Infantile Refsum diseaseORPHA747
HP:0001251HP:0001251Ataxia0PEX55830772Infantile Refsum diseaseORPHA1499
HP:0001251HP:0001251Ataxia0PEX65190772Infantile Refsum diseaseORPHA10498
HP:0001251HP:0001251Ataxia0PEX65190614863Peroxisome biogenesis disorder 4BC3553937OMIM10498
HP:0001251HP:0001251Ataxia0PEX75191266500Phytanic acid storage diseaseC0034960OMIM5272
HP:0001251HP:0001251Ataxia0PEX75191773Refsum diseaseORPHA5272
HP:0001251HP:0001251Ataxia0PGK15230300653Phosphoglycerate kinase 1 deficiencyC1970848OMIM2621
HP:0001251HP:0001251Ataxia0PGM35238615816Immunodeficiency 23C4014371OMIM1215
HP:0001251HP:0001251Ataxia0PHYH5264266500Phytanic acid storage diseaseC0034960OMIM3745
HP:0001251HP:0001251Ataxia0PHYH5264773Refsum diseaseORPHA3745
HP:0001251HP:0001251Ataxia0PIK3CA5290201Cowden syndromeORPHA46162
HP:0001251HP:0001251Ataxia0PLA2G68398256600Infantile neuroaxonal dystrophyC0270724OMIM155133
HP:0001251HP:0001251Ataxia0PLP15354312080Pelizaeus-Merzbacher diseaseC0205711OMIM31660
HP:0001251HP:0001251Ataxia0PMM25373212065Carbohydrate-deficient glycoprotein syndrome type IC0349653OMIM122150
HP:0001251HP:0001251Ataxia0PMPCA232031170Autosomal recessive cerebelloparenchymal disorder type 3ORPHA77
HP:0001251HP:0001251Ataxia0PMPCA23203213200Spinocerebellar ataxia, autosomal recessive 2C1859298OMIM77
HP:0001251HP:0001251Ataxia0PNKP11284616267Ataxia-oculomotor apraxia 4C4225397OMIM16244
HP:0001251HP:0001251Ataxia0PNP4860613179Purine-nucleoside phosphorylase deficiencyC0268125OMIM3452
HP:0001251HP:0001251Ataxia0PNPLA6109081180Ataxia-hypogonadism-choroidal dystrophy syndromeORPHA50103
HP:0001251HP:0001251Ataxia0PNPLA610908215470Boucher Neuhauser syndromeC1859093OMIM50103
HP:0001251HP:0001251Ataxia0PNPLA6109081173CDG syndrome type 3ORPHA50103
HP:0001251HP:0001251Ataxia0PNPLA610908245800Laurence-Moon syndromeC0023138OMIM50103
HP:0001251HP:0001251Ataxia0POLG5428726Alpers-Huttenlocher syndromeORPHA277464
HP:0001251HP:0001251Ataxia0POLG5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE typeC3150914OMIM277464
HP:0001251HP:0001251Ataxia0POLG5428203700Progressive sclerosing poliodystrophyC0205710OMIM277464
HP:0001251HP:0001251Ataxia0POLR1C953388637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeORPHA2038
HP:0001251HP:0001251Ataxia0POLR3A1112888637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeORPHA69138
HP:0001251HP:0001251Ataxia0POLR3B5570388637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeORPHA5467
HP:0001251HP:0001251Ataxia0PPT15538256730Ceroid lipofuscinosis neuronal 1C1850451OMIM77172
HP:0001251HP:0001251Ataxia0PRF15551603553Hemophagocytic lymphohistiocytosis, familial, 2C1863727OMIM17058
HP:0001251HP:0001251Ataxia0PRNP5621600072Fatal familial insomniaC0206042OMIM10269
HP:0001251HP:0001251Ataxia0PRPS15631301835Arts syndromeC0796028OMIM2749
HP:0001251HP:0001251Ataxia0PRPS156311187Cerebellar agenesisORPHA2749
HP:0001251HP:0001251Ataxia0PRPS15631300661Phosphoribosylpyrophosphate synthetase superactivityC1970827OMIM2749
HP:0001251HP:0001251Ataxia0PRRT2112476569Familial or sporadic hemiplegic migraineORPHA9394
HP:0001251HP:0001251Ataxia0PRRT211247631709Infantile convulsions and choreoathetosisORPHA9394
HP:0001251HP:0001251Ataxia0PTEN5728201Cowden syndromeORPHA582948
HP:0001251HP:0001251Ataxia0PTEN572865285Lhermitte-Duclos diseaseORPHA582948
HP:0001251HP:0001251Ataxia0PTRH251651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onsetC4015728OMIM26
HP:0001251HP:0001251Ataxia0PTS58052616406-pyruvoyl-tetrahydropterin synthase deficiencyC0878676OMIM8819
HP:0001251HP:0001251Ataxia0RAD5010111613078Nijmegen breakage syndrome-like disorderC2751318OMIM59789
HP:0001251HP:0001251Ataxia0RFT191869612015Congenital disorder of glycosylation type 1NC2677590OMIM792
HP:0001251HP:0001251Ataxia0RNF168165918611943Riddle syndromeC2677792OMIM47
HP:0001251HP:0001251Ataxia0RNF216544761173CDG syndrome type 3ORPHA1210
HP:0001251HP:0001251Ataxia0RNF21654476212840Gordon Holmes syndromeC1859305OMIM1210
HP:0001251HP:0001251Ataxia0RNR14549551MERRFORPHA
HP:0001251HP:0001251Ataxia0ROGDI79641226750Kohlschutter's syndromeC0406740OMIM1057
HP:0001251HP:0001251Ataxia0RPGRIP1L23322216360COACH syndromeC1857662OMIM46167
HP:0001251HP:0001251Ataxia0RPGRIP1L233221454Common atrioventricular canalC0221215ORPHA46167
HP:0001251HP:0001251Ataxia0RPGRIP1L23322611560Joubert syndrome 7C1969053OMIM46167
HP:0001251HP:0001251Ataxia0RPGRIP1L23322220497Joubert syndrome with renal defectORPHA46167
HP:0001251HP:0001251Ataxia0RPIA22934608611Deficiency of ribose-5-phosphate isomeraseC1291609OMIM218
HP:0001251HP:0001251Ataxia0RRM2B50484480Acrorenal mandibular syndromeC1860166ORPHA41125
HP:0001251HP:0001251Ataxia0RUBCN9711615705Spinocerebellar ataxia, autosomal recessive 15C3810326OMIM49
HP:0001251HP:0001251Ataxia0SAMD9L2192852585Ataxia-pancytopenia syndromeORPHA54
HP:0001251HP:0001251Ataxia0SAMD9L219285159550Myelocerebellar disorderC1327919OMIM54
HP:0001251HP:0001251Ataxia0SCN1A632333069Dravet syndromeORPHA14431053
HP:0001251HP:0001251Ataxia0SCN1A6323569Familial or sporadic hemiplegic migraineORPHA14431053
HP:0001251HP:0001251Ataxia0SCN1A6323607208Severe myoclonic epilepsy in infancyC0751122OMIM14431053
HP:0001251HP:0001251Ataxia0SCN1B632433069Dravet syndromeORPHA21126
HP:0001251HP:0001251Ataxia0SCN2A632633069Dravet syndromeORPHA204427
HP:0001251HP:0001251Ataxia0SCN8A633431709Infantile convulsions and choreoathetosisORPHA65357
HP:0001251HP:0001251Ataxia0SCN9A633533069Dravet syndromeORPHA106318
HP:0001251HP:0001251Ataxia0SCO16341220110Cytochrome-c oxidase deficiencyC0268237OMIM546
HP:0001251HP:0001251Ataxia0SDCCAG810806209900Bardet-Biedl syndromeC0752166OMIM1861
HP:0001251HP:0001251Ataxia0SDHA6389256000Leigh syndromeC0023264OMIM44304
HP:0001251HP:0001251Ataxia0SDHA6389252011Mitochondrial complex II deficiencyC1855008OMIM44304
HP:0001251HP:0001251Ataxia0SDHAF1644096252011Mitochondrial complex II deficiencyC1855008OMIM616
HP:0001251HP:0001251Ataxia0SDHB6390201Cowden syndromeORPHA254237
HP:0001251HP:0001251Ataxia0SDHC6391201Cowden syndromeORPHA56147
HP:0001251HP:0001251Ataxia0SDHD6392201Cowden syndromeORPHA161129
HP:0001251HP:0001251Ataxia0SDHD6392252011Mitochondrial complex II deficiencyC1855008OMIM161129
HP:0001251HP:0001251Ataxia0SEC23B10483201Cowden syndromeORPHA11160
HP:0001251HP:0001251Ataxia0SLC13A5284111615905Epileptic encephalopathy, early infantile, 25C4014621OMIM1773
HP:0001251HP:0001251Ataxia0SLC16A26567300523Allan-Herndon-Dudley syndromeC0795889OMIM8157
HP:0001251HP:0001251Ataxia0SLC16A2656759Erythrokeratodermia with ataxiaC1851481ORPHA8157
HP:0001251HP:0001251Ataxia0SLC17A526503604369Salla diseaseC1096903OMIM3478
HP:0001251HP:0001251Ataxia0SLC39A455630201100Hereditary acrodermatitis enteropathicaC0221036OMIM4955
HP:0001251HP:0001251Ataxia0SLC46A1113235229050Congenital defect of folate absorptionC0342705OMIM20101
HP:0001251HP:0001251Ataxia0SLC52A279581614707Brown-Vialetto-Van Laere syndrome 2C3553538OMIM1647
HP:0001251HP:0001251Ataxia0SLC6A165291942Myoclonic-astastic epilepsyORPHA1629
HP:0001251HP:0001251Ataxia0SLC6A193400242116Encephalopathy-basal ganglia-calcificationORPHA2512
HP:0001251HP:0001251Ataxia0SLC6A8653552503X-linked creatine transporter deficiencyORPHA127122
HP:0001251HP:0001251Ataxia0SMARCB1659899966Atypical teratoid rhabdoid tumorORPHA11687
HP:0001251HP:0001251Ataxia0SNAP256616616330Myasthenic syndrome, congenital, 18C4225364OMIM32
HP:0001251HP:0001251Ataxia0SNAP29934266631CEDNIK syndromeORPHA1294
HP:0001251HP:0001251Ataxia0SNORD118727676614561Leukoencephalopathy, brain calcifications, and cystsC3281200OMIM356
HP:0001251HP:0001251Ataxia0SNX1457231616354Spinocerebellar ataxia, autosomal recessive 20C4225355OMIM1214
HP:0001251HP:0001251Ataxia0SOX106663163746Neurologic Waardenburg-Shah syndromeORPHA13061
HP:0001251HP:0001251Ataxia0SOX106663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung diseaseC1836727OMIM13061
HP:0001251HP:0001251Ataxia0SPG11802082822Hyperinsulinism, focalORPHA251287
HP:0001251HP:0001251Ataxia0SPG1180208604360Spastic paraplegia 11, autosomal recessiveC1858479OMIM251287
HP:0001251HP:0001251Ataxia0SPR6697612716Sepiapterin reductase deficiencyC0268468OMIM2228
HP:0001251HP:0001251Ataxia0STXBP1681233069Dravet syndromeORPHA168237
HP:0001251HP:0001251Ataxia0SUCLA288031933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaORPHA2766
HP:0001251HP:0001251Ataxia0SUCLG18802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)C3151476OMIM2860
HP:0001251HP:0001251Ataxia0SUMF1285362272200Multiple sulfatase deficiencyC0268263OMIM5180
HP:0001251HP:0001251Ataxia0SUOX6821272300Sulfite oxidase deficiencyC0268624OMIM2640
HP:0001251HP:0001251Ataxia0SURF16834256000Leigh syndromeC0023264OMIM9873
HP:0001251HP:0001251Ataxia0SYNE12334588644Autosomal recessive ataxia, Beauce typeORPHA1141129
HP:0001251HP:0001251Ataxia0TACO151204220110Cytochrome-c oxidase deficiencyC0268237OMIM223
HP:0001251HP:0001251Ataxia0TCN26948275350Transcobalamin II deficiencyC0342701OMIM3557
HP:0001251HP:0001251Ataxia0TCTN179600475Acquired hypoprothrombinemiaORPHA645
HP:0001251HP:0001251Ataxia0TCTN279867475Acquired hypoprothrombinemiaORPHA1376
HP:0001251HP:0001251Ataxia0TDP155775607250Spinocerebellar ataxia autosomal recessive with axonal neuropathyC1846574OMIM252
HP:0001251HP:0001251Ataxia0TERC7012127550Dyskeratosis congenita autosomal dominantC1851970OMIM6848
HP:0001251HP:0001251Ataxia0TERT7015127550Dyskeratosis congenita autosomal dominantC1851970OMIM164238
HP:0001251HP:0001251Ataxia0TINF226277127550Dyskeratosis congenita autosomal dominantC1851970OMIM3460
HP:0001251HP:0001251Ataxia0TINF226277613990Dyskeratosis congenita, autosomal dominant, 3C3151445OMIM3460
HP:0001251HP:0001251Ataxia0TINF226277268130Revesz syndromeC1327916OMIM3460
HP:0001251HP:0001251Ataxia0TMEM126B55863252010Mitochondrial complex I deficiencyC1838979OMIM44
HP:0001251HP:0001251Ataxia0TMEM138515242318Joubert syndrome with oculorenal defectORPHA739
HP:0001251HP:0001251Ataxia0TMEM21651259608091Joubert syndrome 2C1842577OMIM845
HP:0001251HP:0001251Ataxia0TMEM216512592318Joubert syndrome with oculorenal defectORPHA845
HP:0001251HP:0001251Ataxia0TMEM231795832318Joubert syndrome with oculorenal defectORPHA1833
HP:0001251HP:0001251Ataxia0TMEM23765062475Acquired hypoprothrombinemiaORPHA1082
HP:0001251HP:0001251Ataxia0TMEM23765062614424Joubert syndrome 14C3280766OMIM1082
HP:0001251HP:0001251Ataxia0TMEM237650622318Joubert syndrome with oculorenal defectORPHA1082
HP:0001251HP:0001251Ataxia0TMEM23765062220497Joubert syndrome with renal defectORPHA1082
HP:0001251HP:0001251Ataxia0TMEM6791147475Acquired hypoprothrombinemiaORPHA148166
HP:0001251HP:0001251Ataxia0TMEM6791147216360COACH syndromeC1857662OMIM148166
HP:0001251HP:0001251Ataxia0TMEM67911471454Common atrioventricular canalC0221215ORPHA148166
HP:0001251HP:0001251Ataxia0TMEM6791147610688Joubert syndrome 6C1853153OMIM148166
HP:0001251HP:0001251Ataxia0TMEM7054968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2C3279699OMIM1863
HP:0001251HP:0001251Ataxia0TPK127010614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)C3280866OMIM1121
HP:0001251HP:0001251Ataxia0TPP11200204500Ceroid lipofuscinosis neuronal 2C1876161OMIM109203
HP:0001251HP:0001251Ataxia0TRAPPC1160684615356Limb-girdle muscular dystrophy, type 2SC3809236OMIM827
HP:0001251HP:0001251Ataxia0TRNF4558550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0TRNF4558551MERRFORPHA
HP:0001251HP:0001251Ataxia0TRNF4558545000Myoclonus with epilepsy with ragged red fibersC0162672OMIM
HP:0001251HP:0001251Ataxia0TRNH4564550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0TRNH4564551MERRFORPHA
HP:0001251HP:0001251Ataxia0TRNI4565545000Myoclonus with epilepsy with ragged red fibersC0162672OMIM
HP:0001251HP:0001251Ataxia0TRNK45661349Chromosome 9, partial monosomy 9pC2931695ORPHA
HP:0001251HP:0001251Ataxia0TRNK4566551MERRFORPHA
HP:0001251HP:0001251Ataxia0TRNK4566545000Myoclonus with epilepsy with ragged red fibersC0162672OMIM
HP:0001251HP:0001251Ataxia0TRNL14567480Acrorenal mandibular syndromeC1860166ORPHA
HP:0001251HP:0001251Ataxia0TRNL14567550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0TRNL14567551MERRFORPHA
HP:0001251HP:0001251Ataxia0TRNL14567545000Myoclonus with epilepsy with ragged red fibersC0162672OMIM
HP:0001251HP:0001251Ataxia0TRNP4571551MERRFORPHA
HP:0001251HP:0001251Ataxia0TRNP4571545000Myoclonus with epilepsy with ragged red fibersC0162672OMIM
HP:0001251HP:0001251Ataxia0TRNQ4572550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0TRNQ4572551MERRFORPHA
HP:0001251HP:0001251Ataxia0TRNS14574550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0TRNS14574551MERRFORPHA
HP:0001251HP:0001251Ataxia0TRNS24575550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0TRNS24575551MERRFORPHA
HP:0001251HP:0001251Ataxia0TRNS24575231183Usher syndrome type 3ORPHA
HP:0001251HP:0001251Ataxia0TRNW4578550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0001251HP:0001251Ataxia0TSFM10102610505Combined oxidative phosphorylation deficiency 3C1864840OMIM743
HP:0001251HP:0001251Ataxia0TTPA7274277460Ataxia with vitamin E deficiencyC1848533OMIM2862
HP:0001251HP:0001251Ataxia0TTR7276105210Amyloidogenic transthyretin amyloidosisC2751492OMIM140107
HP:0001251HP:0001251Ataxia0TUBA1A7846611603Lissencephaly 3C1969029OMIM63106
HP:0001251HP:0001251Ataxia0TUBB203068615771Cortical dysplasia, complex, with other brain malformations 6C4014283OMIM514
HP:0001251HP:0001251Ataxia0TWNK566521186Infantile onset spinocerebellar ataxiaORPHA74113
HP:0001251HP:0001251Ataxia0TWNK56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)C1849096OMIM74113
HP:0001251HP:0001251Ataxia0TWNK56652616138Perrault syndrome 5C4015307OMIM74113
HP:0001251HP:0001251Ataxia0UQCRQ27089615159Mitochondrial complex III deficiency, nuclear type 4C3554607OMIM134
HP:0001251HP:0001251Ataxia0UROC1131669276880Urocanate hydratase deficiencyC0268514OMIM38
HP:0001251HP:0001251Ataxia0USH1C10083231169Usher syndrome type 1ORPHA47173
HP:0001251HP:0001251Ataxia0USH1G124590231169Usher syndrome type 1ORPHA2578
HP:0001251HP:0001251Ataxia0VHL7428892Billet Bear syndromeORPHA580490
HP:0001251HP:0001251Ataxia0VLDLR74361766Dysequilibrium syndromeORPHA27111
HP:0001251HP:0001251Ataxia0VPS13A232302388Friedreich ataxia congenital glaucomaC1856688ORPHA113130
HP:0001251HP:0001251Ataxia0VRK17443607596Pontocerebellar hypoplasia type 1AC1843504OMIM832
HP:0001251HP:0001251Ataxia0WDR738494283472CAMOS syndromeORPHA1114
HP:0001251HP:0001251Ataxia0WDR811249971766Dysequilibrium syndromeORPHA327
HP:0001251HP:0001251Ataxia0WFS17466222300Diabetes mellitus AND insipidus with optic atrophy AND deafnessC0043207OMIM353389
HP:0001251HP:0001251Ataxia0WFS174663463Wolfram syndromeORPHA353389
HP:0001251HP:0001251Ataxia0XPA7507278700Xeroderma pigmentosum, type 1C0268135OMIM4834
HP:0001251HP:0001251Ataxia0ZFYVE2623503270700Spastic paraplegia 15C1849128OMIM37189
HP:0001251HP:0001251Ataxia0ZNF423230902318Joubert syndrome with oculorenal defectORPHA649
HP:0001251HP:0001251Ataxia0ZNF592964083472CAMOS syndromeORPHA14
HP:0001251HP:0009878Cerebellar ataxia associated with quadrupedal gait1
HP:0001251HP:0010867Dyssynergia1
HP:0001251HP:0002470Nonprogressive cerebellar ataxia1ABCB722301310Anemia sideroblastic and spinocerebellar ataxiaC1845028OMIM735
HP:0001251HP:0001310Dysmetria1ABCB722301310Anemia sideroblastic and spinocerebellar ataxiaC1845028OMIM735
HP:0001251HP:0002075Dysdiadochokinesis1ABCB722301310Anemia sideroblastic and spinocerebellar ataxiaC1845028OMIM735
HP:0001251HP:0002078Truncal ataxia1ABCD1215300100AdrenoleukodystrophyC0162309OMIM657135
HP:0001251HP:0002070Limb ataxia1ABCD1215300100AdrenoleukodystrophyC0162309OMIM657135
HP:0001251HP:0001310Dysmetria1ABHD1226090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataractC2675204OMIM1650
HP:0001251HP:0002078Truncal ataxia1ADGRG19289606854Polymicrogyria, bilateral frontoparietalC1847352OMIM3088
HP:0001251HP:0002066Gait ataxia1ADSL158103050Adenylosuccinate lyase deficiencyC0268126OMIM53118
HP:0001251HP:0002075Dysdiadochokinesis1AFG3L210939614487Spastic ataxia 5, autosomal recessiveC3280977OMIM2686
HP:0001251HP:0002497Spastic ataxia1AFG3L210939614487Spastic ataxia 5, autosomal recessiveC3280977OMIM2686
HP:0001251HP:0001310Dysmetria1AFG3L210939614487Spastic ataxia 5, autosomal recessiveC3280977OMIM2686
HP:0001251HP:0002066Gait ataxia1AFG3L210939610246Spinocerebellar ataxia 28C1853249OMIM2686
HP:0001251HP:0002070Limb ataxia1AFG3L210939610246Spinocerebellar ataxia 28C1853249OMIM2686
HP:0001251HP:0002078Truncal ataxia1ANO1055129613728Spinocerebellar ataxia, autosomal recessive 10C3150998OMIM1764
HP:0001251HP:0002066Gait ataxia1ANO1055129613728Spinocerebellar ataxia, autosomal recessive 10C3150998OMIM1764
HP:0001251HP:0002070Limb ataxia1ANO1055129613728Spinocerebellar ataxia, autosomal recessive 10C3150998OMIM1764
HP:0001251HP:0001310Dysmetria1ANO1055129613728Spinocerebellar ataxia, autosomal recessive 10C3150998OMIM1764
HP:0001251HP:0002078Truncal ataxia1APTX54840208920Adult onset ataxia with oculomotor apraxiaC1859598OMIM4061
HP:0001251HP:0002066Gait ataxia1APTX54840208920Adult onset ataxia with oculomotor apraxiaC1859598OMIM4061
HP:0001251HP:0002070Limb ataxia1APTX54840208920Adult onset ataxia with oculomotor apraxiaC1859598OMIM4061
HP:0001251HP:0002066Gait ataxia1ATCAY85300601238Cerebellar ataxia, cayman typeC1832585OMIM272
HP:0001251HP:0002131Episodic ataxia1ATP1A2477602481Familial hemiplegic migraine type 2C1865322OMIM85239
HP:0001251HP:0002078Truncal ataxia1ATP1A3478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing lossC1832466OMIM100150
HP:0001251HP:0001310Dysmetria1ATP1A3478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing lossC1832466OMIM100150
HP:0001251HP:0002131Episodic ataxia1ATP1A3478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing lossC1832466OMIM100150
HP:0001251HP:0002066Gait ataxia1ATP1A3478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing lossC1832466OMIM100150
HP:0001251HP:0002078Truncal ataxia1ATP8A251761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4C3808977OMIM624
HP:0001251HP:0002075Dysdiadochokinesis1ATXN16310164400Spinocerebellar ataxia 1C0752120OMIM719
HP:0001251HP:0002070Limb ataxia1ATXN16310164400Spinocerebellar ataxia 1C0752120OMIM719
HP:0001251HP:0002078Truncal ataxia1ATXN16310164400Spinocerebellar ataxia 1C0752120OMIM719
HP:0001251HP:0002073Progressive cerebellar ataxia1ATXN16310164400Spinocerebellar ataxia 1C0752120OMIM719
HP:0001251HP:0001310Dysmetria1ATXN16310164400Spinocerebellar ataxia 1C0752120OMIM719
HP:0001251HP:0001310Dysmetria1ATXN1025814603516Spinocerebellar ataxia 10C1963674OMIM49
HP:0001251HP:0002073Progressive cerebellar ataxia1ATXN1025814603516Spinocerebellar ataxia 10C1963674OMIM49
HP:0001251HP:0002066Gait ataxia1ATXN1025814603516Spinocerebellar ataxia 10C1963674OMIM49
HP:0001251HP:0002075Dysdiadochokinesis1ATXN1025814603516Spinocerebellar ataxia 10C1963674OMIM49
HP:0001251HP:0002070Limb ataxia1ATXN1025814603516Spinocerebellar ataxia 10C1963674OMIM49
HP:0001251HP:0002073Progressive cerebellar ataxia1ATXN26311183090Spinocerebellar ataxia 2C0752121OMIM3911
HP:0001251HP:0001310Dysmetria1ATXN26311183090Spinocerebellar ataxia 2C0752121OMIM3911
HP:0001251HP:0002075Dysdiadochokinesis1ATXN26311183090Spinocerebellar ataxia 2C0752121OMIM3911
HP:0001251HP:0002070Limb ataxia1ATXN26311183090Spinocerebellar ataxia 2C0752121OMIM3911
HP:0001251HP:0002078Truncal ataxia1ATXN34287109150Azorean diseaseC0024408OMIM314
HP:0001251HP:0002070Limb ataxia1ATXN34287109150Azorean diseaseC0024408OMIM314
HP:0001251HP:0002073Progressive cerebellar ataxia1ATXN34287109150Azorean diseaseC0024408OMIM314
HP:0001251HP:0001310Dysmetria1ATXN76314164500Spinocerebellar ataxia 7C0752125OMIM58
HP:0001251HP:0002073Progressive cerebellar ataxia1ATXN8724066608768Spinocerebellar ataxia 8C1837454OMIM21
HP:0001251HP:0002073Progressive cerebellar ataxia1ATXN8OS6315608768Spinocerebellar ataxia 8C1837454OMIM51
HP:0001251HP:0001310Dysmetria1BAZ1B9031904Blepharophimosis nasal groove growth retardationORPHA2
HP:0001251HP:0002066Gait ataxia1BEAN1146227117210Spinocerebellar ataxia 31C1861736OMIM21
HP:0001251HP:0002070Limb ataxia1BEAN1146227117210Spinocerebellar ataxia 31C1861736OMIM21
HP:0001251HP:0002073Progressive cerebellar ataxia1CACNA1A773108500Episodic ataxia type 2C1720416OMIM189449
HP:0001251HP:0002131Episodic ataxia1CACNA1A773108500Episodic ataxia type 2C1720416OMIM189449
HP:0001251HP:0002073Progressive cerebellar ataxia1CACNA1A773183086Spinocerebellar ataxia 6C0752124OMIM189449
HP:0001251HP:0002131Episodic ataxia1CACNB4785613855Episodic ataxia, type 5C1866039OMIM7146
HP:0001251HP:0001310Dysmetria1CAMTA123261614756Cerebellar ataxia, nonprogressive, with mental retardationC3553661OMIM834
HP:0001251HP:0002066Gait ataxia1CAV1857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndromeC1847582OMIM1111
HP:0001251HP:0001310Dysmetria1CAV1857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndromeC1847582OMIM1111
HP:0001251HP:0002075Dysdiadochokinesis1CCDC88C440193616053Spinocerebellar ataxia 40CN219009OMIM654
HP:0001251HP:0002066Gait ataxia1CHAMP1283489616579Mental retardation, autosomal dominant 40C4225275OMIM1516
HP:0001251HP:0002070Limb ataxia1CLCN21181615651Leukoencephalopathy with ataxiaC3810242OMIM3044
HP:0001251HP:0002066Gait ataxia1CLCN21181615651Leukoencephalopathy with ataxiaC3810242OMIM3044
HP:0001251HP:0001310Dysmetria1CLIP27461904Blepharophimosis nasal groove growth retardationORPHA
HP:0001251HP:0002078Truncal ataxia1COG510466613612Congenital disorder of glycosylation type 2iC3150876OMIM1079
HP:0001251HP:0001310Dysmetria1CTDP1915048431Congenital cataracts-facial dysmorphism-neuropathy syndromeORPHA117
HP:0001251HP:0002066Gait ataxia1CUL4B8450300354Syndromic X-linked mental retardation, Cabezas typeC1845861OMIM3538
HP:0001251HP:0002078Truncal ataxia1CWF19L155280616127Spinocerebellar ataxia, autosomal recessive 17C4015301OMIM49
HP:0001251HP:0001310Dysmetria1CWF19L155280616127Spinocerebellar ataxia, autosomal recessive 17C4015301OMIM49
HP:0001251HP:0002470Nonprogressive cerebellar ataxia1DNAJC191311186101983-methylglutaconic aciduria type VC1857776OMIM325
HP:0001251HP:0002066Gait ataxia1DNAJC35611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusC4015436OMIM33
HP:0001251HP:0002066Gait ataxia1DNAJC69829391411Atypical juvenile parkinsonismORPHA136
HP:0001251HP:0002078Truncal ataxia1EEF21938609306Spinocerebellar ataxia 26C1836395OMIM14
HP:0001251HP:0002066Gait ataxia1EEF21938609306Spinocerebellar ataxia 26C1836395OMIM14
HP:0001251HP:0002070Limb ataxia1EEF21938609306Spinocerebellar ataxia 26C1836395OMIM14
HP:0001251HP:0001310Dysmetria1ELN2006904Blepharophimosis nasal groove growth retardationORPHA108172
HP:0001251HP:0002075Dysdiadochokinesis1ELOVL467851955Spinocerebellar ataxia type 34ORPHA1262
HP:0001251HP:0002073Progressive cerebellar ataxia1ELOVL467851955Spinocerebellar ataxia type 34ORPHA1262
HP:0001251HP:0002070Limb ataxia1ELOVL560481615957Spinocerebellar ataxia 38C4014812OMIM34
HP:0001251HP:0002066Gait ataxia1ELOVL560481615957Spinocerebellar ataxia 38C4014812OMIM34
HP:0001251HP:0001310Dysmetria1ERMARD55780758576q terminal deletion syndromeORPHA236
HP:0001251HP:0002066Gait ataxia1ERMARD55780758576q terminal deletion syndromeORPHA236
HP:0001251HP:0001310Dysmetria1FA2H79152612319Spastic paraplegia 35C3668943OMIM4176
HP:0001251HP:0002078Truncal ataxia1FGF142259609307Spinocerebellar ataxia 27C1836383OMIM947
HP:0001251HP:0001310Dysmetria1FMR12332300623Fragile X tremor/ataxia syndromeC1839780OMIM8130
HP:0001251HP:0002066Gait ataxia1FMR12332300623Fragile X tremor/ataxia syndromeC1839780OMIM8130
HP:0001251HP:0002075Dysdiadochokinesis1FMR12332300623Fragile X tremor/ataxia syndromeC1839780OMIM8130
HP:0001251HP:0002066Gait ataxia1FMR1233293256Fragile X-associated tremor/ataxia syndromeORPHA8130
HP:0001251HP:0001310Dysmetria1FMR1233293256Fragile X-associated tremor/ataxia syndromeORPHA8130
HP:0001251HP:0001310Dysmetria1FXN239595Friedreich ataxiaORPHA6518
HP:0001251HP:0002066Gait ataxia1FXN239595Friedreich ataxiaORPHA6518
HP:0001251HP:0002070Limb ataxia1FXN239595Friedreich ataxiaORPHA6518
HP:0001251HP:0002070Limb ataxia1FXN2395229300Friedreich ataxia 1C1856689OMIM6518
HP:0001251HP:0002066Gait ataxia1FXN2395229300Friedreich ataxia 1C1856689OMIM6518
HP:0001251HP:0002066Gait ataxia1GCH12643128230Dystonia 5, Dopa-responsive typeC1851920OMIM22986
HP:0001251HP:0001310Dysmetria1GJC257165613206Spastic paraplegia 44, autosomal recessiveC2750784OMIM5337
HP:0001251HP:0002078Truncal ataxia1GRID22895616204Spinocerebellar ataxia, autosomal recessive 18C4015505OMIM1418
HP:0001251HP:0002066Gait ataxia1GRID22895616204Spinocerebellar ataxia, autosomal recessive 18C4015505OMIM1418
HP:0001251HP:0002075Dysdiadochokinesis1GRID22895616204Spinocerebellar ataxia, autosomal recessive 18C4015505OMIM1418
HP:0001251HP:0001310Dysmetria1GRID22895616204Spinocerebellar ataxia, autosomal recessive 18C4015505OMIM1418
HP:0001251HP:0002075Dysdiadochokinesis1GRM12911614831Spinocerebellar ataxia, autosomal recessive 13C3553816OMIM168
HP:0001251HP:0001310Dysmetria1GRM12911614831Spinocerebellar ataxia, autosomal recessive 13C3553816OMIM168
HP:0001251HP:0001310Dysmetria1GTF2I2969904Blepharophimosis nasal groove growth retardationORPHA11
HP:0001251HP:0001310Dysmetria1GTF2IRD19569904Blepharophimosis nasal groove growth retardationORPHA61
HP:0001251HP:0002078Truncal ataxia1HARS3035614504Usher syndrome, type 3BC3281066OMIM1033
HP:0001251HP:0001310Dysmetria1HIBCH26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiencyC0342738OMIM1432
HP:0001251HP:0002066Gait ataxia1HSD17B43295233400Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritanceC0685838OMIM9598
HP:0001251HP:0002066Gait ataxia1HTT3064143100Huntington's choreaC0020179OMIM812
HP:0001251HP:0002131Episodic ataxia1KCNA13736160120Episodic ataxia type 1C1719788OMIM38145
HP:0001251HP:0002073Progressive cerebellar ataxia1KCNC33748605259Spinocerebellar ataxia 13C1854488OMIM817
HP:0001251HP:0002066Gait ataxia1KCNC33748605259Spinocerebellar ataxia 13C1854488OMIM817
HP:0001251HP:0002070Limb ataxia1KCNC33748605259Spinocerebellar ataxia 13C1854488OMIM817
HP:0001251HP:0002078Truncal ataxia1KCND33752607346Spinocerebellar ataxia 19C1846367OMIM1735
HP:0001251HP:0002070Limb ataxia1KCND33752607346Spinocerebellar ataxia 19C1846367OMIM1735
HP:0001251HP:0002073Progressive cerebellar ataxia1KCND33752607346Spinocerebellar ataxia 19C1846367OMIM1735
HP:0001251HP:0002066Gait ataxia1KCND33752607346Spinocerebellar ataxia 19C1846367OMIM1735
HP:0001251HP:0002075Dysdiadochokinesis1KCNJ103766612780SeSAME syndromeC2748572OMIM27121
HP:0001251HP:0002078Truncal ataxia1KCTD7154881611726Epilepsy, progressive myoclonic 3C2673257OMIM14106
HP:0001251HP:0001310Dysmetria1KIF1A547610357Spastic paraplegia 30, autosomal recessiveC1835896OMIM33276
HP:0001251HP:0002497Spastic ataxia1KIF1C10749611302Ataxia, spastic, 2, autosomal recessiveC1969796OMIM738
HP:0001251HP:0001310Dysmetria1KIF1C10749611302Ataxia, spastic, 2, autosomal recessiveC1969796OMIM738
HP:0001251HP:0002066Gait ataxia1KIF1C10749611302Ataxia, spastic, 2, autosomal recessiveC1969796OMIM738
HP:0001251HP:0001310Dysmetria1LIMK13984904Blepharophimosis nasal groove growth retardationORPHA6
HP:0001251HP:0002066Gait ataxia1LMNB284823616540Epilepsy, progressive myoclonic, 9C4225289OMIM511
HP:0001251HP:0001310Dysmetria1MAG4099616680Spastic paraplegia 75, autosomal recessiveC4225250OMIM34
HP:0001251HP:0002066Gait ataxia1MAN2B14125248500Deficiency of alpha-mannosidaseC0024748OMIM140136
HP:0001251HP:0002070Limb ataxia1MAN2B14125248500Deficiency of alpha-mannosidaseC0024748OMIM140136
HP:0001251HP:0002497Spastic ataxia1MARS292935611390Ataxia, spastic, 3, autosomal recessiveC1969645OMIM525
HP:0001251HP:0001310Dysmetria1MARS292935611390Ataxia, spastic, 3, autosomal recessiveC1969645OMIM525
HP:0001251HP:0002066Gait ataxia1MARS292935611390Ataxia, spastic, 3, autosomal recessiveC1969645OMIM525
HP:0001251HP:0002066Gait ataxia1MECP24204312750Rett syndromeC0035372OMIM960950
HP:0001251HP:0002078Truncal ataxia1MECP24204312750Rett syndromeC0035372OMIM960950
HP:0001251HP:0002497Spastic ataxia1MMADHC27249277410Methylmalonic acidemia with homocystinuria cblDC1848552OMIM1350
HP:0001251HP:0002066Gait ataxia1MPZ4359180800Roussy-Lévy syndromeC0205713OMIM237134
HP:0001251HP:0002075Dysdiadochokinesis1MRE114361604391Ataxia-telangiectasia-like disorder 1C1858391OMIM44532
HP:0001251HP:0002066Gait ataxia1MRE114361604391Ataxia-telangiectasia-like disorder 1C1858391OMIM44532
HP:0001251HP:0002497Spastic ataxia1MTPAP55149613672Ataxia, spastic, 4, autosomal recessiveC3150925OMIM219
HP:0001251HP:0002073Progressive cerebellar ataxia1MVK4598610377Mevalonic aciduriaC1959626OMIM170150
HP:0001251HP:0002078Truncal ataxia1NAT8L339983614063N-acetylaspartate deficiencyC3279716OMIM11
HP:0001251HP:0001310Dysmetria1NEU14758256550Sialidosis, type IIC0268226OMIM5943
HP:0001251HP:0002070Limb ataxia1NOP5610528614153Spinocerebellar ataxia 36C3472711OMIM19
HP:0001251HP:0002066Gait ataxia1NOP5610528614153Spinocerebellar ataxia 36C3472711OMIM19
HP:0001251HP:0002066Gait ataxia1OPHN14983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearanceC1845366OMIM3455
HP:0001251HP:0001310Dysmetria1OPHN14983137831X-linked intellectual disability-cerebellar hypoplasia syndromeORPHA3455
HP:0001251HP:0002131Episodic ataxia1OTC5009311250Ornithine carbamoyltransferase deficiencyC0268542OMIM504369
HP:0001251HP:0002075Dysdiadochokinesis1PDE8B8622228169Autosomal dominant striatal neurodegenerationORPHA975
HP:0001251HP:0002075Dysdiadochokinesis1PDE8B8622609161Striatal degeneration, autosomal dominantC1836694OMIM975
HP:0001251HP:0002075Dysdiadochokinesis1PDGFB5155213600Idiopathic basal ganglia calcification 1C0393590OMIM179
HP:0001251HP:0002075Dysdiadochokinesis1PDGFRB5159213600Idiopathic basal ganglia calcification 1C0393590OMIM1128
HP:0001251HP:0002131Episodic ataxia1PDHA15160312170Pyruvate dehydrogenase E1-alpha deficiencyC1839414OMIM16888
HP:0001251HP:0002066Gait ataxia1PDP154704608782Pyruvate dehydrogenase phosphatase deficiencyC1837429OMIM252
HP:0001251HP:0002066Gait ataxia1PDYN5173610245Spinocerebellar ataxia 23C1853250OMIM1852
HP:0001251HP:0002070Limb ataxia1PDYN5173610245Spinocerebellar ataxia 23C1853250OMIM1852
HP:0001251HP:0001310Dysmetria1PDYN5173610245Spinocerebellar ataxia 23C1853250OMIM1852
HP:0001251HP:0001310Dysmetria1PEX25828614867Peroxisome biogenesis disorder 5BC3542026OMIM1882
HP:0001251HP:0001310Dysmetria1PIK3R523533615217Ataxia-oculomotor apraxia 3C3554690OMIM111
HP:0001251HP:0002075Dysdiadochokinesis1PLA2G68398610217Neurodegeneration with brain iron accumulation 2bC1857747OMIM155133
HP:0001251HP:0001310Dysmetria1PLA2G68398610217Neurodegeneration with brain iron accumulation 2bC1857747OMIM155133
HP:0001251HP:0002066Gait ataxia1PLA2G68398610217Neurodegeneration with brain iron accumulation 2bC1857747OMIM155133
HP:0001251HP:0001310Dysmetria1PLP15354312920Spastic paraplegia 2C1839264OMIM31660
HP:0001251HP:0002066Gait ataxia1PMP225376180800Roussy-Lévy syndromeC0205713OMIM15679
HP:0001251HP:0001310Dysmetria1PMPCA23203213200Spinocerebellar ataxia, autosomal recessive 2C1859298OMIM77
HP:0001251HP:0001310Dysmetria1PNPLA850640251950Mitochondrial myopathy with lactic acidosisC1855033OMIM43
HP:0001251HP:0002066Gait ataxia1POLG5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1C1834846OMIM277464
HP:0001251HP:0002070Limb ataxia1POLG5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegiaC1850303OMIM277464
HP:0001251HP:0002066Gait ataxia1POLG5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegiaC1850303OMIM277464
HP:0001251HP:0001310Dysmetria1POLR3A11128607694Hypomyelinating leukodystrophy 7C1843200OMIM69138
HP:0001251HP:0001310Dysmetria1POLR3B55703607694Hypomyelinating leukodystrophy 7C1843200OMIM5467
HP:0001251HP:0001310Dysmetria1POLR3B55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadismC3280644OMIM5467
HP:0001251HP:0002075Dysdiadochokinesis1POLR3B55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadismC3280644OMIM5467
HP:0001251HP:0002073Progressive cerebellar ataxia1PPP2R2B5521604326Spinocerebellar ataxia 12C1858501OMIM65
HP:0001251HP:0002075Dysdiadochokinesis1PPP2R2B5521604326Spinocerebellar ataxia 12C1858501OMIM65
HP:0001251HP:0001310Dysmetria1PPP2R2B5521604326Spinocerebellar ataxia 12C1858501OMIM65
HP:0001251HP:0001310Dysmetria1PRICKLE1144165612437Progressive myoclonus epilepsy with ataxiaC2676254OMIM14133
HP:0001251HP:0001310Dysmetria1PRICKLE2166336613832Epilepsy, progressive myoclonic 5CN226157OMIM6107
HP:0001251HP:0002073Progressive cerebellar ataxia1PRKCG5582605361Spinocerebellar ataxia 14C1854369OMIM4083
HP:0001251HP:0001310Dysmetria1PRKCG5582605361Spinocerebellar ataxia 14C1854369OMIM4083
HP:0001251HP:0002066Gait ataxia1PRKCG5582605361Spinocerebellar ataxia 14C1854369OMIM4083
HP:0001251HP:0002066Gait ataxia1PRNP5621137440Gerstmann-Straussler-Scheinker syndromeC0017495OMIM10269
HP:0001251HP:0002070Limb ataxia1PRNP5621137440Gerstmann-Straussler-Scheinker syndromeC0017495OMIM10269
HP:0001251HP:0002078Truncal ataxia1PRNP5621137440Gerstmann-Straussler-Scheinker syndromeC0017495OMIM10269
HP:0001251HP:0001310Dysmetria1PRNP5621603218Huntington disease-like 1C1864112OMIM10269
HP:0001251HP:0002066Gait ataxia1PRNP5621123400Jakob-Creutzfeldt diseaseC0022336OMIM10269
HP:0001251HP:0002066Gait ataxia1PSAP5660249900Sphingolipid activator protein 1 deficiencyC0268262OMIM2481
HP:0001251HP:0001310Dysmetria1RARS5917616140Leukodystrophy, hypomyelinating, 9C4015323OMIM740
HP:0001251HP:0001310Dysmetria1RFC25982904Blepharophimosis nasal groove growth retardationORPHA2
HP:0001251HP:0002066Gait ataxia1RRM2B50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathyC2749861OMIM41125
HP:0001251HP:0002497Spastic ataxia1SACS26278270550Spastic ataxia Charlevoix-Saguenay typeC1849140OMIM231309
HP:0001251HP:0001310Dysmetria1SACS26278270550Spastic ataxia Charlevoix-Saguenay typeC1849140OMIM231309
HP:0001251HP:0001310Dysmetria1SAMD9L219285159550Myelocerebellar disorderC1327919OMIM54
HP:0001251HP:0002066Gait ataxia1SCARB2950254900Epilepsy, progressive myoclonic 4, with or without renal failureC0751779OMIM2377
HP:0001251HP:0002066Gait ataxia1SCYL157410616719Spinocerebellar ataxia, autosomal recessive 21C4225236OMIM65
HP:0001251HP:0002070Limb ataxia1SETX23064606002Spinocerebellar ataxia autosomal recessive 1C1853761OMIM189162
HP:0001251HP:0001310Dysmetria1SFXN4119559615578Combined oxidative phosphorylation deficiency 18C3810001OMIM417
HP:0001251HP:0002066Gait ataxia1SIL164374248800Marinesco-Sjögren syndromeC0024814OMIM4967
HP:0001251HP:0002070Limb ataxia1SIL164374248800Marinesco-Sjögren syndromeC0024814OMIM4967
HP:0001251HP:0002075Dysdiadochokinesis1SLC18A26571352649Brain dopamine-serotonin vesicular transport diseaseORPHA52
HP:0001251HP:0002066Gait ataxia1SLC19A380704607483Basal ganglia disease, biotin-responsiveC1843807OMIM24110
HP:0001251HP:0002078Truncal ataxia1SLC1A36507612656Episodic ataxia, type 6C2675211OMIM1063
HP:0001251HP:0002131Episodic ataxia1SLC1A36507612656Episodic ataxia, type 6C2675211OMIM1063
HP:0001251HP:0002075Dysdiadochokinesis1SLC20A26575213600Idiopathic basal ganglia calcification 1C0393590OMIM6270
HP:0001251HP:0002131Episodic ataxia1SLC6A19340024234500Neutral 1 amino acid transport defectC0018609OMIM2512
HP:0001251HP:0002070Limb ataxia1SLC9A16548616291Lichtenstein-knorr syndromeC4225383OMIM62
HP:0001251HP:0001310Dysmetria1SLC9A16548616291Lichtenstein-knorr syndromeC4225383OMIM62
HP:0001251HP:0002075Dysdiadochokinesis1SLC9A16548616291Lichtenstein-knorr syndromeC4225383OMIM62
HP:0001251HP:0002066Gait ataxia1SLC9A16548616291Lichtenstein-knorr syndromeC4225383OMIM62
HP:0001251HP:0002066Gait ataxia1SLC9A61047985278Christianson syndromeORPHA1893
HP:0001251HP:0002078Truncal ataxia1SLC9A61047985278Christianson syndromeORPHA1893
HP:0001251HP:0002078Truncal ataxia1SLC9A610479300243Christianson syndromeC2678194OMIM1893
HP:0001251HP:0001310Dysmetria1SPG2023111275900Troyer syndromeC0393559OMIM4
HP:0001251HP:0002066Gait ataxia1SPG76687607259Spastic paraplegia 7C1846564OMIM104171
HP:0001251HP:0002075Dysdiadochokinesis1SPTBN26712600224Spinocerebellar ataxia 5C0752123OMIM15126
HP:0001251HP:0002066Gait ataxia1SPTBN26712600224Spinocerebellar ataxia 5C0752123OMIM15126
HP:0001251HP:0002070Limb ataxia1SPTBN26712600224Spinocerebellar ataxia 5C0752123OMIM15126
HP:0001251HP:0001310Dysmetria1SPTBN26712600224Spinocerebellar ataxia 5C0752123OMIM15126
HP:0001251HP:0002075Dysdiadochokinesis1SPTBN26712615386Spinocerebellar ataxia, autosomal recessive 14C3809327OMIM15126
HP:0001251HP:0001310Dysmetria1SPTBN26712615386Spinocerebellar ataxia, autosomal recessive 14C3809327OMIM15126
HP:0001251HP:0002066Gait ataxia1SPTBN26712615386Spinocerebellar ataxia, autosomal recessive 14C3809327OMIM15126
HP:0001251HP:0002078Truncal ataxia1STUB110273615768Spinocerebellar ataxia, autosomal recessive 16C4014261OMIM2214
HP:0001251HP:0002070Limb ataxia1STUB110273615768Spinocerebellar ataxia, autosomal recessive 16C4014261OMIM2214
HP:0001251HP:0002066Gait ataxia1SYNE123345610743Spinocerebellar ataxia, autosomal recessive 8C1853116OMIM1141129
HP:0001251HP:0002070Limb ataxia1SYNE123345610743Spinocerebellar ataxia, autosomal recessive 8C1853116OMIM1141129
HP:0001251HP:0001310Dysmetria1SYNE123345610743Spinocerebellar ataxia, autosomal recessive 8C1853116OMIM1141129
HP:0001251HP:0002066Gait ataxia1SYNJ18867391411Atypical juvenile parkinsonismORPHA229
HP:0001251HP:0002078Truncal ataxia1SYT14255928614229Spinocerebellar ataxia, autosomal recessive 11C3280226OMIM24
HP:0001251HP:0002070Limb ataxia1SYT14255928614229Spinocerebellar ataxia, autosomal recessive 11C3280226OMIM24
HP:0001251HP:0001310Dysmetria1TBL226608904Blepharophimosis nasal groove growth retardationORPHA
HP:0001251HP:0001310Dysmetria1TBP6908607136Spinocerebellar ataxia 17C1846707OMIM177
HP:0001251HP:0002066Gait ataxia1TBP6908607136Spinocerebellar ataxia 17C1846707OMIM177
HP:0001251HP:0002070Limb ataxia1TBP6908607136Spinocerebellar ataxia 17C1846707OMIM177
HP:0001251HP:0002066Gait ataxia1TBX189096143100Huntington's choreaC0020179OMIM85
HP:0001251HP:0002066Gait ataxia1TCF46925610954Pitt-Hopkins syndromeC1970431OMIM132241
HP:0001251HP:0001310Dysmetria1TCTN279867616654Joubert syndrome 24C4084841OMIM1376
HP:0001251HP:0002066Gait ataxia1TECPR29895615031Spastic paraplegia 49, autosomal recessiveC3542549OMIM539
HP:0001251HP:0001310Dysmetria1TECPR29895615031Spastic paraplegia 49, autosomal recessiveC3542549OMIM539
HP:0001251HP:0001310Dysmetria1TGM6343641613908Spinocerebellar ataxia 35C3888031OMIM1258
HP:0001251HP:0002066Gait ataxia1TH7054605407Segawa syndrome, autosomal recessiveC1854299OMIM6780
HP:0001251HP:0002073Progressive cerebellar ataxia1TMEM240339453607454Spinocerebellar ataxia 21C1843891OMIM69
HP:0001251HP:0002066Gait ataxia1TMEM240339453607454Spinocerebellar ataxia 21C1843891OMIM69
HP:0001251HP:0002070Limb ataxia1TMEM240339453607454Spinocerebellar ataxia 21C1843891OMIM69
HP:0001251HP:0002073Progressive cerebellar ataxia1TTBK2146057604432Spinocerebellar ataxia 11C1858351OMIM757
HP:0001251HP:0002075Dysdiadochokinesis1TTC1954902615157Mitochondrial complex III deficiency, nuclear type 2C3554605OMIM988
HP:0001251HP:0001310Dysmetria1TTC1954902615157Mitochondrial complex III deficiency, nuclear type 2C3554605OMIM988
HP:0001251HP:0001310Dysmetria1TTPA727496Ataxia with vitamin E deficiencyORPHA2862
HP:0001251HP:0002075Dysdiadochokinesis1TTPA727496Ataxia with vitamin E deficiencyORPHA2862
HP:0001251HP:0001310Dysmetria1UCHL17345615491Neurodegeneration with optic atrophy, childhood-onsetC3809665OMIM521
HP:0001251HP:0002066Gait ataxia1UROC1131669210128Urocanic aciduriaORPHA38
HP:0001251HP:0002078Truncal ataxia1UROC1131669210128Urocanic aciduriaORPHA38
HP:0001251HP:0002497Spastic ataxia1VAMP16843108600Ataxia, spastic, 1, autosomal dominantC1970107OMIM42
HP:0001251HP:0002075Dysdiadochokinesis1VLDLR7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1CN074243OMIM27111
HP:0001251HP:0001310Dysmetria1VLDLR7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1CN074243OMIM27111
HP:0001251HP:0002078Truncal ataxia1VLDLR7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1CN074243OMIM27111
HP:0001251HP:0002066Gait ataxia1VLDLR7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1CN074243OMIM27111
HP:0001251HP:0002075Dysdiadochokinesis1WDR81124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2C2750234OMIM327
HP:0001251HP:0002078Truncal ataxia1WDR81124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2C2750234OMIM327
HP:0001251HP:0001310Dysmetria1WDR81124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2C2750234OMIM327
HP:0001251HP:0002073Progressive cerebellar ataxia1WFS17466411590Wolfram-like syndromeORPHA353389
HP:0001251HP:0002066Gait ataxia1WWOX51741614322Spinocerebellar ataxia, autosomal recessive 12C3280452OMIM39149
HP:0001251HP:0002070Limb ataxia1WWOX51741614322Spinocerebellar ataxia, autosomal recessive 12C3280452OMIM39149
HP:0001251HP:0001310Dysmetria1XRCC47518616541Short stature, microcephaly, and endocrine dysfunctionC4225288OMIM159
HP:0001251HP:0002075Dysdiadochokinesis1XRCC47518616541Short stature, microcephaly, and endocrine dysfunctionC4225288OMIM159
HP:0001251HP:0012651Abasia2
HP:0001251HP:0010868Ocular dyssynergia2
HP:0001251HP:0010869Asynergia2
HP:0001251HP:0002406Limb dysmetria2GBA257704614409Spastic paraplegia 46, autosomal recessiveC2828721OMIM1530
HP:0001251HP:0002406Limb dysmetria2KCNC33748605259Spinocerebellar ataxia 13C1854488OMIM817
HP:0001251HP:0002406Limb dysmetria2PDGFB5155213600Idiopathic basal ganglia calcification 1C0393590OMIM179
HP:0001251HP:0002406Limb dysmetria2PDGFRB5159213600Idiopathic basal ganglia calcification 1C0393590OMIM1128
HP:0001251HP:0007240Progressive gait ataxia2POLG5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisC1843851OMIM277464
HP:0001251HP:0007240Progressive gait ataxia2SACS26278270550Spastic ataxia Charlevoix-Saguenay typeC1849140OMIM231309
HP:0001251HP:0007221Progressive truncal ataxia2SACS26278270550Spastic ataxia Charlevoix-Saguenay typeC1849140OMIM231309
HP:0001251HP:0007240Progressive gait ataxia2SETX23064606002Spinocerebellar ataxia autosomal recessive 1C1853761OMIM189162
HP:0001251HP:0002406Limb dysmetria2SLC20A26575213600Idiopathic basal ganglia calcification 1C0393590OMIM6270
HP:0001251HP:0007240Progressive gait ataxia2TWNK56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesisC1843851OMIM74113
HP:0001251HP:0007240Progressive gait ataxia2UBE3A7337105830Angelman syndromeC0162635OMIM179278
HP:0001251HP:0020036Upper limb dysmetria3
HP:0001251HP:0020035Lower limb dysmetria3
Note: The variant numbers are the total numbers per gene, not limited to the listed diseases or phenotypes.

Genes (441) :AAAS AARS2 ABCB7 ABCC8 ABCD1 ABHD12 ABHD5 ACO2 ADA2 ADGRG1 ADSL AFG3L2 AHI1 AKT1 ALDH5A1 ALG6 ANO10 ANOS1 APOB APOPT1 APTX ARL13B ARSA ASL ASS1 ATCAY ATM ATP1A2 ATP1A3 ATP6 ATP8 ATP8A2 ATPAF2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS AUH B9D1 BAZ1B BBS1 BBS4 BCKDHA BCKDHB BCS1L BEAN1 BSCL2 BTD C12ORF65 C19ORF12 C5ORF42 CA8 CACNA1A CACNB4 CAMTA1 CAV1 CC2D2A CCDC88C CDH23 CEP104 CEP120 CEP290 CEP41 CHAMP1 CHCHD10 CHD2 CIB2 CISD2 CLCN2 CLIP2 CLN6 CLN8 CLRN1 COA5 COG4 COG5 COL18A1 COQ2 COQ8A COX1 COX10 COX14 COX15 COX2 COX20 COX3 COX6B1 CP CPS1 CSPP1 CSTB CTC1 CTDP1 CTSD CTSF CUL4B CWF19L1 CYP27A1 CYTB DARS2 DBT DCX DHFR DLAT DLD DMXL2 DNAJC19 DNAJC3 DNAJC6 DNMT1 DPM1 EDNRB EEF2 ELN ELOVL4 ELOVL5 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ERMARD ETHE1 FA2H FASTKD2 FGF14 FMR1 FOXRED1 FTL FXN GABRA1 GABRG2 GAMT GBA GBA2 GCH1 GFAP GJA1 GJC2 GLB1 GMPPB GOSR2 GPI GRID2 GRM1 GRN GSS GTF2I GTF2IRD1 HARS HEPACAM HEXB HIBCH HSD17B4 HTRA1 HTT HYLS1 IFT140 IKBKAP INPP5E ITM2B ITPR1 KCNA1 KCNA2 KCNC3 KCND3 KCNJ10 KCTD7 KIAA0556 KIAA0586 KIF1A KIF1C KLLN LETM1 LIMK1 LMBRD1 LMNB1 LMNB2 LRPPRC MAG MAN2B1 MARS2 MBD5 MCOLN1 MECP2 MFSD8 MKKS MKS1 MLC1 MMADHC MPDU1 MPV17 MPZ MRE11 MTPAP MTTP MVK MYO5A MYO7A NANS NAT8L ND1 ND2 ND4 ND4L ND5 ND6 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NELFA NEU1 NF2 NKX2-1 NME1 NOP56 NPC1 NPC2 NPHP1 NSD2 NUBPL OFD1 OGDH OPA1 OPA3 OPHN1 OTC PANK2 PAX6 PCDH15 PCDH19 PCNA PDE8B PDGFB PDGFRB PDHA1 PDHX PDP1 PDYN PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGK1 PGM3 PHYH PIK3CA PIK3R5 PLA2G6 PLP1 PMM2 PMP22 PMPCA PNKP PNP PNPLA6 PNPLA8 POLG POLR1C POLR3A POLR3B PPP2R2B PPT1 PRF1 PRICKLE1 PRICKLE2 PRKCG PRNP PRPS1 PRRT2 PSAP PTEN PTRH2 PTS RAD50 RARS RFC2 RFT1 RNF168 RNF216 RNR1 ROGDI RPGRIP1L RPIA RRM2B RUBCN SACS SAMD9L SCARB2 SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 SCYL1 SDCCAG8 SDHA SDHAF1 SDHB SDHC SDHD SEC23B SETX SFXN4 SIL1 SLC13A5 SLC16A2 SLC17A5 SLC18A2 SLC19A3 SLC1A3 SLC20A2 SLC39A4 SLC46A1 SLC52A2 SLC6A1 SLC6A19 SLC6A8 SLC9A1 SLC9A6 SMARCB1 SNAP25 SNAP29 SNORD118 SNX14 SOX10 SPG11 SPG20 SPG7 SPR SPTBN2 STUB1 STXBP1 SUCLA2 SUCLG1 SUMF1 SUOX SURF1 SYNE1 SYNJ1 SYT14 TACO1 TBL2 TBP TBX18 TCF4 TCN2 TCTN1 TCTN2 TDP1 TECPR2 TERC TERT TGM6 TH TINF2 TMEM126B TMEM138 TMEM216 TMEM231 TMEM237 TMEM240 TMEM67 TMEM70 TPK1 TPP1 TRAPPC11 TRNF TRNH TRNI TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRNW TSFM TTBK2 TTC19 TTPA TTR TUBA1A TUBB TWNK UBE3A UCHL1 UQCRQ UROC1 USH1C USH1G VAMP1 VHL VLDLR VPS13A VRK1 WDR73 WDR81 WFS1 WWOX XPA XRCC4 ZFYVE26 ZNF423 ZNF592

Diseases (395) :231550 615889 240800 275630 614559 615688 475 608629 220493 201 22 271980 603147 308700 615558 220110 208920 1168 250100 207900 23 215700 100 208900 569 614820 535000 551500 480 1766 604273 250950 209900 248600 256000 124000 117210 615924 79241 253260 1239 613559 614298 614615 613227 141500 216360 1454 2318 231169 610188 614464 615911 1942 3463 204300 600143 231183 613489 267750 607426 612016 550 48818 604290 237300 615636 254800 612199 604168 610127 615362 213700 611105 300067 613839 245348 246900 616113 604121 608799 277580 278730 220295 610651 133540 278800 216400 602473 252010 606159 33069 612736 77261 231000 203450 2710 164200 608804 230600 615350 614018 613470 614706 266130 604004 613925 268800 600142 266920 1764 213300 117300 206700 1065 972 616366 199343 280 79284 99027 169500 220111 228402 156200 578 300260 300055 778 610951 609180 256810 200100 14 29 79476 610442 551 812 637 610978 256700 257220 607625 609583 220497 2750 31 210000 258501 67047 234200 615919 245349 772 614871 614877 614863 266500 773 300653 615816 256600 312080 212065 1170 213200 616267 613179 1180 215470 1173 245800 726 613662 203700 88637 256730 603553 600072 301835 1187 300661 31709 65285 616263 261640 613078 612015 611943 212840 226750 611560 608611 615705 2585 159550 607208 252011 615905 300523 59 604369 201100 229050 614707 2116 52503 99966 616330 66631 614561 616354 163746 609136 2822 604360 612716 1933 245400 272200 272300 88644 275350 607250 127550 613990 268130 608091 614424 610688 614052 614458 204500 615356 545000 1349 610505 277460 105210 611603 615771 1186 271245 616138 615159 276880 892 2388 607596 83472 222300 278700 270700 301310 300100 612674 606854 103050 614487 610246 613728 601238 602481 601338 615268 164400 603516 183090 109150 164500 608768 904 108500 183086 613855 614756 606721 616053 616579 615651 613612 48431 300354 616127 610198 616192 391411 609306 1955 615957 75857 612319 609307 300623 93256 95 229300 128230 613206 616204 614831 614504 250620 233400 143100 160120 605259 607346 612780 611726 610357 611302 616540 616680 248500 611390 312750 277410 180800 604391 613672 610377 614063 256550 614153 300486 137831 311250 228169 609161 213600 312170 608782 610245 614867 615217 610217 312920 251950 157640 258450 607694 614381 604326 612437 613832 605361 137440 603218 123400 249900 616140 612075 270550 254900 616719 606002 615578 248800 352649 607483 612656 234500 616291 85278 300243 275900 607259 600224 615386 615768 610743 614229 607136 610954 616654 615031 613908 605407 607454 604432 615157 96 615491 210128 108600 224050 610185 411590 614322 616541 614409 607459 105830
 
       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: 
..expandAbnormal morphology of the cerebellar cortex (HP:0031422) help
..expandAbnormality of the dentate nucleus (HP:0100321) help
..expandAplasia/Hypoplasia of the cerebellum (HP:0007360) help
..expandCerebellar atrophy (HP:0001272) help
..expandCerebellar calcifications (HP:0007352) help
..expandCerebellar dysplasia (HP:0007033) help
..expandCerebellar edema (HP:0030915) help
..expandCerebellar gliosis (HP:0012698) help
..expandCerebellar hemangioblastoma (HP:0006880) help
..expandCerebellar malformation (HP:0002438) help
..expandDysplastic gangliocytoma of the cerebellum (HP:0500009) help
..expandEnlarged cerebellum (HP:0012081) help
..expandFusion of the cerebellar hemispheres (HP:0006899) help
..expandOlivopontocerebellar atrophy (HP:0002542) help
..expandRecurrent subcortical infarcts (HP:0007236) help
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.