Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal central motor function (HP:0011442)help
Parent Node:
expand
Abnormal cerebellum morphology (HP:0001317)help
Parent Node:
expand
Abnormality of coordination (HP:0011443)help
..Starting node
..expand
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- or 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001251HP:0001251Ataxia0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0001251HP:0001251Ataxia0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0001251HP:0001251Ataxia0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failure.143
HP:0001251HP:0001251Ataxia0AASS CL E G H1015717366ORPHA:2203Hyperlysinemia15
HP:0001251HP:0001251Ataxia0AASS CL E G H1015717366ORPHA:3124Saccharopinuria15
HP:0001251HP:0001251Ataxia0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001251HP:0001251Ataxia0ABCA5 CL E G H2346135ORPHA:2026Gingival fibromatosis-hypertrichosis syndromeHP:0040283 - Occasional1
HP:0001251HP:0001251Ataxia0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0001251HP:0001251Ataxia0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia35
HP:0001251HP:0001251Ataxia0ABCB7 CL E G H2248ORPHA:2802X-linked sideroblastic anemia and spinocerebellar ataxiaHP:0040281 - Very frequent35
HP:0001251HP:0001251Ataxia0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive.245
HP:0001251HP:0001251Ataxia0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0001251HP:0001251Ataxia0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0001251HP:0001251Ataxia0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0001251HP:0001251Ataxia0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0001251HP:0001251Ataxia0ABHD5 CL E G H5109921396OMIM:275630Chanarin-Dorfman syndrome.90
HP:0001251HP:0001251Ataxia0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0001251HP:0001251Ataxia0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional197
HP:0001251HP:0001251Ataxia0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0001251HP:0001251Ataxia0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0001251HP:0001251Ataxia0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional11
HP:0001251HP:0001251Ataxia0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0001251HP:0001251Ataxia0ACOX2 CL E G H8309120OMIM:617308Bile acid synthesis defect, congenital, 6.2
HP:0001251HP:0001251Ataxia0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001251HP:0001251Ataxia0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001251HP:0001251Ataxia0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0001251HP:0001251Ataxia0ADGRG1 CL E G H92894512ORPHA:98889Bilateral perisylvian polymicrogyria88
HP:0001251HP:0001251Ataxia0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0001251HP:0001251Ataxia0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional530
HP:0001251HP:0001251Ataxia0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional530
HP:0001251HP:0001251Ataxia0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0001251HP:0001251Ataxia0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0001251HP:0001251Ataxia0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0001251HP:0001251Ataxia0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0001251HP:0001251Ataxia0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 2886
HP:0001251HP:0001251Ataxia0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 2886
HP:0001251HP:0001251Ataxia0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0001251HP:0001251Ataxia0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophyHP:0040284 - Very rare1
HP:0001251HP:0001251Ataxia0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0001251HP:0001251Ataxia0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040282 - Frequent36
HP:0001251HP:0001251Ataxia0AHI1 CL E G H5480621575ORPHA:475Joubert syndromeHP:0040281 - Very frequent175
HP:0001251HP:0001251Ataxia0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0001251HP:0001251Ataxia0AHI1 CL E G H5480621575ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent175
HP:0001251HP:0001251Ataxia0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0001251HP:0001251Ataxia0AIFM1 CL E G H91318768ORPHA:101078X-linked Charcot-Marie-Tooth disease type 4HP:0040283 - Occasional60
HP:0001251HP:0001251Ataxia0AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040282 - Frequent54
HP:0001251HP:0001251Ataxia0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0001251HP:0001251Ataxia0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0001251HP:0001251Ataxia0ALDH18A1 CL E G H58329722OMIM:601162Spastic paraplegia 9A, autosomal dominant89
HP:0001251HP:0001251Ataxia0ALDH5A1 CL E G H7915408ORPHA:22Succinic semialdehyde dehydrogenase deficiencyHP:0040281 - Very frequent108
HP:0001251HP:0001251Ataxia0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0001251HP:0001251Ataxia0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040283 - Occasional41
HP:0001251HP:0001251Ataxia0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040282 - Frequent66
HP:0001251HP:0001251Ataxia0ALG6 CL E G H2992923157OMIM:603147Congenital disorder of glycosylation, type Ic.66
HP:0001251HP:0001251Ataxia0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0001251HP:0001251Ataxia0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040284 - Very rare404
HP:0001251HP:0001251Ataxia0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0001251HP:0001251Ataxia0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0001251HP:0001251Ataxia0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiencyHP:0040283 - Occasional44
HP:0001251HP:0001251Ataxia0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0001251HP:0001251Ataxia0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional150
HP:0001251HP:0001251Ataxia0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0001251HP:0001251Ataxia0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 1064
HP:0001251HP:0001251Ataxia0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0001251HP:0001251Ataxia0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0001251HP:0001251Ataxia0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome13
HP:0001251HP:0001251Ataxia0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0001251HP:0001251Ataxia0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0001251HP:0001251Ataxia0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040282 - Frequent165
HP:0001251HP:0001251Ataxia0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0001251HP:0001251Ataxia0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040284 - Very rare3179
HP:0001251HP:0001251Ataxia0APOB CL E G H338603OMIM:615558Hypobetalipoproteinemia, familial, 1.356
HP:0001251HP:0001251Ataxia0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional74
HP:0001251HP:0001251Ataxia0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0001251HP:0001251Ataxia0APTX CL E G H5484015984ORPHA:1168Ataxia-oculomotor apraxia type 1HP:0040281 - Very frequent61
HP:0001251HP:0001251Ataxia0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0001251HP:0001251Ataxia0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001251HP:0001251Ataxia0ARL13B CL E G H20089425419ORPHA:475Joubert syndromeHP:0040281 - Very frequent62
HP:0001251HP:0001251Ataxia0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0001251HP:0001251Ataxia0ARL3 CL E G H403694ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0001251HP:0001251Ataxia0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0001251HP:0001251Ataxia0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0001251HP:0001251Ataxia0ARMC9 CL E G H8021020730ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0001251HP:0001251Ataxia0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0001251HP:0001251Ataxia0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0001251HP:0001251Ataxia0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0001251HP:0001251Ataxia0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0ARV1 CL E G H6480129561OMIM:617020Epileptic encephalopathy, early infantile, 38.3
HP:0001251HP:0001251Ataxia0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001251HP:0001251Ataxia0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0001251HP:0001251Ataxia0ASL CL E G H435746ORPHA:23Argininosuccinic aciduriaHP:0040282 - Frequent81
HP:0001251HP:0001251Ataxia0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria.81
HP:0001251HP:0001251Ataxia0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic.119
HP:0001251HP:0001251Ataxia0ATAD1 CL E G H8489625903ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0001251HP:0001251Ataxia0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndrome5
HP:0001251HP:0001251Ataxia0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman type72
HP:0001251HP:0001251Ataxia0ATCAY CL E G H85300779OMIM:601238Cerebellar ataxia, Cayman type72
HP:0001251HP:0001251Ataxia0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 25.1
HP:0001251HP:0001251Ataxia0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0001251HP:0001251Ataxia0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040281 - Very frequent3267
HP:0001251HP:0001251Ataxia0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0001251HP:0001251Ataxia0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0001251HP:0001251Ataxia0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0001251HP:0001251Ataxia0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional4
HP:0001251HP:0001251Ataxia0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78100
HP:0001251HP:0001251Ataxia0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0001251HP:0001251Ataxia0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0001251HP:0001251Ataxia0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0001251HP:0001251Ataxia0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraine239
HP:0001251HP:0001251Ataxia0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2239
HP:0001251HP:0001251Ataxia0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H478801ORPHA:1171Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeHP:0040281 - Very frequent150
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0001251HP:0001251Ataxia0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0001251HP:0001251Ataxia0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0001251HP:0001251Ataxia0ATP5MK CL E G H8483330889OMIM:618683MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0001251HP:0001251Ataxia0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy.
HP:0001251HP:0001251Ataxia0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa.
HP:0001251HP:0001251Ataxia0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0001251HP:0001251Ataxia0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0001251HP:0001251Ataxia0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndrome140
HP:0001251HP:0001251Ataxia0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001251HP:0001251Ataxia0ATP8 CL E G H45097415ORPHA:480Kearns-Sayre syndromeHP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0ATP8A2 CL E G H5176113533OMIM:615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome424
HP:0001251HP:0001251Ataxia0ATP8A2 CL E G H5176113533ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent24
HP:0001251HP:0001251Ataxia0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0001251HP:0001251Ataxia0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0001251HP:0001251Ataxia0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0001251HP:0001251Ataxia0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0001251HP:0001251Ataxia0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0001251HP:0001251Ataxia0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0001251HP:0001251Ataxia0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0001251HP:0001251Ataxia0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 114
HP:0001251HP:0001251Ataxia0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 214
HP:0001251HP:0001251Ataxia0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 314
HP:0001251HP:0001251Ataxia0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II8
HP:0001251HP:0001251Ataxia0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040280 - Obligate8
HP:0001251HP:0001251Ataxia0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 81
HP:0001251HP:0001251Ataxia0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0001251HP:0001251Ataxia0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 81
HP:0001251HP:0001251Ataxia0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0001251HP:0001251Ataxia0AUH CL E G H549890ORPHA:670463-methylglutaconic aciduria type 149
HP:0001251HP:0001251Ataxia0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0001251HP:0001251Ataxia0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0001251HP:0001251Ataxia0B9D1 CL E G H2707724123ORPHA:475Joubert syndromeHP:0040281 - Very frequent28
HP:0001251HP:0001251Ataxia0B9D1 CL E G H2707724123OMIM:617120Joubert syndrome 27.28
HP:0001251HP:0001251Ataxia0B9D2 CL E G H8077628636ORPHA:475Joubert syndromeHP:0040281 - Very frequent34
HP:0001251HP:0001251Ataxia0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0001251HP:0001251Ataxia0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0001251HP:0001251Ataxia0BCKDHA CL E G H593986OMIM:248600Maple syrup urine disease.120
HP:0001251HP:0001251Ataxia0BCKDHB CL E G H594987OMIM:248600Maple syrup urine disease.162
HP:0001251HP:0001251Ataxia0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001251HP:0001251Ataxia0BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 31.1
HP:0001251HP:0001251Ataxia0BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 311
HP:0001251HP:0001251Ataxia0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare16
HP:0001251HP:0001251Ataxia0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare
HP:0001251HP:0001251Ataxia0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaHP:0040283 - Occasional14
HP:0001251HP:0001251Ataxia0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0001251HP:0001251Ataxia0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0001251HP:0001251Ataxia0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040282 - Frequent105
HP:0001251HP:0001251Ataxia0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0001251HP:0001251Ataxia0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0001251HP:0001251Ataxia0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0001251HP:0001251Ataxia0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0001251HP:0001251Ataxia0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001251HP:0001251Ataxia0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron disease56
HP:0001251HP:0001251Ataxia0C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansionsHP:0040282 - Frequent56
HP:0001251HP:0001251Ataxia0CA8 CL E G H7671382OMIM:613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome3.8
HP:0001251HP:0001251Ataxia0CA8 CL E G H7671382ORPHA:1766Dysequilibrium syndromeHP:0040281 - Very frequent8
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancyHP:0040282 - Frequent449
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2449
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraine449
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxiaHP:0040281 - Very frequent449
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1.449
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6449
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6449
HP:0001251HP:0001251Ataxia0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0001251HP:0001251Ataxia0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0001251HP:0001251Ataxia0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0001251HP:0001251Ataxia0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0001251HP:0001251Ataxia0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0001251HP:0001251Ataxia0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0001251HP:0001251Ataxia0CACNB4 CL E G H7851404OMIM:607682Epilepsy, idiopathic generalized, susceptibility to, 9146
HP:0001251HP:0001251Ataxia0CACNB4 CL E G H7851404ORPHA:211067Episodic ataxia type 5HP:0040282 - Frequent146
HP:0001251HP:0001251Ataxia0CACNB4 CL E G H7851404OMIM:613855Episodic ataxia, type 5146
HP:0001251HP:0001251Ataxia0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001251HP:0001251Ataxia0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0001251HP:0001251Ataxia0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0001251HP:0001251Ataxia0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040282 - Frequent4
HP:0001251HP:0001251Ataxia0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0001251HP:0001251Ataxia0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001251HP:0001251Ataxia0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001251HP:0001251Ataxia0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0001251HP:0001251Ataxia0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0001251HP:0001251Ataxia0CBY1 CL E G H257761307ORPHA:475Joubert syndromeHP:0040281 - Very frequent1
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H5754529253ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent247
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent247
HP:0001251HP:0001251Ataxia0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0001251HP:0001251Ataxia0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0001251HP:0001251Ataxia0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0001251HP:0001251Ataxia0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0001251HP:0001251Ataxia0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent636
HP:0001251HP:0001251Ataxia0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0001251HP:0001251Ataxia0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0001251HP:0001251Ataxia0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0CEP104 CL E G H973124866ORPHA:475Joubert syndromeHP:0040281 - Very frequent5
HP:0001251HP:0001251Ataxia0CEP104 CL E G H973124866OMIM:616781Joubert syndrome 255
HP:0001251HP:0001251Ataxia0CEP120 CL E G H15324126690ORPHA:475Joubert syndromeHP:0040281 - Very frequent7
HP:0001251HP:0001251Ataxia0CEP120 CL E G H15324126690OMIM:617761Joubert syndrome 317
HP:0001251HP:0001251Ataxia0CEP120 CL E G H15324126690ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent7
HP:0001251HP:0001251Ataxia0CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndromeHP:0040283 - Occasional34
HP:0001251HP:0001251Ataxia0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5.342
HP:0001251HP:0001251Ataxia0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040281 - Very frequent342
HP:0001251HP:0001251Ataxia0CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndromeHP:0040283 - Occasional342
HP:0001251HP:0001251Ataxia0CEP41 CL E G H9568112370ORPHA:475Joubert syndromeHP:0040281 - Very frequent90
HP:0001251HP:0001251Ataxia0CEP41 CL E G H9568112370OMIM:614464Joubert syndrome 15.90
HP:0001251HP:0001251Ataxia0CEP41 CL E G H9568112370ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent90
HP:0001251HP:0001251Ataxia0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent9
HP:0001251HP:0001251Ataxia0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0001251HP:0001251Ataxia0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0001251HP:0001251Ataxia0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0001251HP:0001251Ataxia0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2.11
HP:0001251HP:0001251Ataxia0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron disease11
HP:0001251HP:0001251Ataxia0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional227
HP:0001251HP:0001251Ataxia0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0001251HP:0001251Ataxia0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0001251HP:0001251Ataxia0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0001251HP:0001251Ataxia0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent15
HP:0001251HP:0001251Ataxia0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class II118
HP:0001251HP:0001251Ataxia0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040282 - Frequent3
HP:0001251HP:0001251Ataxia0CLCN2 CL E G H11812020OMIM:615651Leukoencephalopathy with ataxia44
HP:0001251HP:0001251Ataxia0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0001251HP:0001251Ataxia0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0001251HP:0001251Ataxia0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0001251HP:0001251Ataxia0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5.141
HP:0001251HP:0001251Ataxia0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0001251HP:0001251Ataxia0CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive.143
HP:0001251HP:0001251Ataxia0CLN8 CL E G H20552079OMIM:600143Ceroid lipofuscinosis, neuronal, 8.111
HP:0001251HP:0001251Ataxia0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0001251HP:0001251Ataxia0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001251HP:0001251Ataxia0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent60
HP:0001251HP:0001251Ataxia0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0001251HP:0001251Ataxia0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001251HP:0001251Ataxia0CLTRN CL E G H5739329437ORPHA:2116Hartnup diseaseHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0001251HP:0001251Ataxia0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001251HP:0001251Ataxia0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0001251HP:0001251Ataxia0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0001251HP:0001251Ataxia0COA8 CL E G H8433420492OMIM:619061MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0001251HP:0001251Ataxia0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0001251HP:0001251Ataxia0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj.67
HP:0001251HP:0001251Ataxia0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0001251HP:0001251Ataxia0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0001251HP:0001251Ataxia0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040282 - Frequent39
HP:0001251HP:0001251Ataxia0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001251HP:0001251Ataxia0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0001251HP:0001251Ataxia0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0001251HP:0001251Ataxia0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0001251HP:0001251Ataxia0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0001251HP:0001251Ataxia0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0001251HP:0001251Ataxia0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0001251HP:0001251Ataxia0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001251HP:0001251Ataxia0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiency136
HP:0001251HP:0001251Ataxia0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4.136
HP:0001251HP:0001251Ataxia0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001251HP:0001251Ataxia0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0001251HP:0001251Ataxia0COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0001251HP:0001251Ataxia0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0COX3 CL E G H45147422OMIM:535000Leber optic atrophy.
HP:0001251HP:0001251Ataxia0COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0COX6B1 CL E G H13402280OMIM:619051MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN710
HP:0001251HP:0001251Ataxia0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0001251HP:0001251Ataxia0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040282 - Frequent115
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H6525025801ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H6525025801OMIM:614615Joubert syndrome 17.
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0001251HP:0001251Ataxia0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent1
HP:0001251HP:0001251Ataxia0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to.124
HP:0001251HP:0001251Ataxia0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8.
HP:0001251HP:0001251Ataxia0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis.149
HP:0001251HP:0001251Ataxia0CSPP1 CL E G H7984826193ORPHA:475Joubert syndromeHP:0040281 - Very frequent57
HP:0001251HP:0001251Ataxia0CSPP1 CL E G H7984826193OMIM:615636Joubert syndrome 21.57
HP:0001251HP:0001251Ataxia0CSTB CL E G H14762482OMIM:254800Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)51
HP:0001251HP:0001251Ataxia0CSTB CL E G H14762482ORPHA:308Progressive myoclonic epilepsy type 1HP:0040282 - Frequent51
HP:0001251HP:0001251Ataxia0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome2
HP:0001251HP:0001251Ataxia0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001251HP:0001251Ataxia0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0001251HP:0001251Ataxia0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0001251HP:0001251Ataxia0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0001251HP:0001251Ataxia0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0001251HP:0001251Ataxia0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0001251HP:0001251Ataxia0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0001251HP:0001251Ataxia0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0001251HP:0001251Ataxia0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0001251HP:0001251Ataxia0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0001251HP:0001251Ataxia0CXCR4 CL E G H78522561ORPHA:51636WHIM syndrome9
HP:0001251HP:0001251Ataxia0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001251HP:0001251Ataxia0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0001251HP:0001251Ataxia0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0001251HP:0001251Ataxia0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5A57
HP:0001251HP:0001251Ataxia0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0001251HP:0001251Ataxia0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0CYTB CL E G H45197427OMIM:535000Leber optic atrophy.
HP:0001251HP:0001251Ataxia0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37.4
HP:0001251HP:0001251Ataxia0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 374
HP:0001251HP:0001251Ataxia0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001251HP:0001251Ataxia0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0001251HP:0001251Ataxia0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0001251HP:0001251Ataxia0DBT CL E G H16292698OMIM:248600Maple syrup urine disease.156
HP:0001251HP:0001251Ataxia0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0001251HP:0001251Ataxia0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional27
HP:0001251HP:0001251Ataxia0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1.145
HP:0001251HP:0001251Ataxia0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0001251HP:0001251Ataxia0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0001251HP:0001251Ataxia0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18
HP:0001251HP:0001251Ataxia0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040283 - Occasional57
HP:0001251HP:0001251Ataxia0DHDDS CL E G H7994720603OMIM:617836Developmental delay and seizures with or without movement abnormalities47
HP:0001251HP:0001251Ataxia0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0001251HP:0001251Ataxia0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0001251HP:0001251Ataxia0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0001251HP:0001251Ataxia0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linkedHP:0040283 - Occasional65
HP:0001251HP:0001251Ataxia0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional65
HP:0001251HP:0001251Ataxia0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type I
HP:0001251HP:0001251Ataxia0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0001251HP:0001251Ataxia0DLD CL E G H17382898OMIM:246900Dihydrolipoamide dehydrogenase deficiency.89
HP:0001251HP:0001251Ataxia0DLD CL E G H17382898ORPHA:2394Pyruvate dehydrogenase E3 deficiencyHP:0040283 - Occasional89
HP:0001251HP:0001251Ataxia0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0001251HP:0001251Ataxia0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0001251HP:0001251Ataxia0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0001251HP:0001251Ataxia0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0001251HP:0001251Ataxia0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0001251HP:0001251Ataxia0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040281 - Very frequent25
HP:0001251HP:0001251Ataxia0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0001251HP:0001251Ataxia0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome3
HP:0001251HP:0001251Ataxia0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0DNAJC5 CL E G H8033116235OMIM:162350Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant.155
HP:0001251HP:0001251Ataxia0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonism6
HP:0001251HP:0001251Ataxia0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040283 - Occasional3
HP:0001251HP:0001251Ataxia0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0001251HP:0001251Ataxia0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040283 - Occasional94
HP:0001251HP:0001251Ataxia0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040283 - Occasional145
HP:0001251HP:0001251Ataxia0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.145
HP:0001251HP:0001251Ataxia0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0001251HP:0001251Ataxia0DOHH CL E G H8347528662OMIM:620066
HP:0001251HP:0001251Ataxia0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0001251HP:0001251Ataxia0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0001251HP:0001251Ataxia0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0001251HP:0001251Ataxia0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001251HP:0001251Ataxia0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0001251HP:0001251Ataxia0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040282 - Frequent134
HP:0001251HP:0001251Ataxia0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0001251HP:0001251Ataxia0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001251HP:0001251Ataxia0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0001251HP:0001251Ataxia0EDNRB CL E G H19103180OMIM:277580Waardenburg-Shah syndrome.55
HP:0001251HP:0001251Ataxia0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0001251HP:0001251Ataxia0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0001251HP:0001251Ataxia0EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 264
HP:0001251HP:0001251Ataxia0EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 264
HP:0001251HP:0001251Ataxia0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001251HP:0001251Ataxia0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0001251HP:0001251Ataxia0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0001251HP:0001251Ataxia0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001251HP:0001251Ataxia0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34.62
HP:0001251HP:0001251Ataxia0ELOVL4 CL E G H678514415ORPHA:1955Spinocerebellar ataxia type 3462
HP:0001251HP:0001251Ataxia0ELOVL5 CL E G H6048121308OMIM:615957Spinocerebellar ataxia 38.4
HP:0001251HP:0001251Ataxia0ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 384
HP:0001251HP:0001251Ataxia0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040282 - Frequent133
HP:0001251HP:0001251Ataxia0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional51
HP:0001251HP:0001251Ataxia0EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0001251HP:0001251Ataxia0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0001251HP:0001251Ataxia0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001251HP:0001251Ataxia0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive12
HP:0001251HP:0001251Ataxia0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent20
HP:0001251HP:0001251Ataxia0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0001251HP:0001251Ataxia0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0001251HP:0001251Ataxia0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0001251HP:0001251Ataxia0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent106
HP:0001251HP:0001251Ataxia0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0001251HP:0001251Ataxia0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0001251HP:0001251Ataxia0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0001251HP:0001251Ataxia0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent54
HP:0001251HP:0001251Ataxia0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0001251HP:0001251Ataxia0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0001251HP:0001251Ataxia0ERCC4 CL E G H20723436OMIM:278760Xeroderma pigmentosum, complementation group FHP:0040283 - Occasional158
HP:0001251HP:0001251Ataxia0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent158
HP:0001251HP:0001251Ataxia0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0001251HP:0001251Ataxia0ERCC5 CL E G H20733437OMIM:278780Xeroderma pigmentosum, complementation group GHP:0040283 - Occasional83
HP:0001251HP:0001251Ataxia0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent83
HP:0001251HP:0001251Ataxia0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0001251HP:0001251Ataxia0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent199
HP:0001251HP:0001251Ataxia0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0001251HP:0001251Ataxia0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0001251HP:0001251Ataxia0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0001251HP:0001251Ataxia0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0001251HP:0001251Ataxia0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent55
HP:0001251HP:0001251Ataxia0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndrome36
HP:0001251HP:0001251Ataxia0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040281 - Very frequent33
HP:0001251HP:0001251Ataxia0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0001251HP:0001251Ataxia0ETHE1 CL E G H2347423287ORPHA:51188Ethylmalonic encephalopathyHP:0040282 - Frequent42
HP:0001251HP:0001251Ataxia0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0001251HP:0001251Ataxia0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001251HP:0001251Ataxia0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0001251HP:0001251Ataxia0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0001251HP:0001251Ataxia0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0001251HP:0001251Ataxia0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0001251HP:0001251Ataxia0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0001251HP:0001251Ataxia0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0001251HP:0001251Ataxia0FAT2 CL E G H21963596OMIM:617769Spinocerebellar ataxia 45.2
HP:0001251HP:0001251Ataxia0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndromeHP:0040283 - Occasional114
HP:0001251HP:0001251Ataxia0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)HP:0040283 - Occasional384
HP:0001251HP:0001251Ataxia0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001251HP:0001251Ataxia0FBXW7 CL E G H5529416712OMIM:62001222
HP:0001251HP:0001251Ataxia0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0001251HP:0001251Ataxia0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 473
HP:0001251HP:0001251Ataxia0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0001251HP:0001251Ataxia0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0001251HP:0001251Ataxia0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0001251HP:0001251Ataxia0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0001251HP:0001251Ataxia0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0001251HP:0001251Ataxia0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0001251HP:0001251Ataxia0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0001251HP:0001251Ataxia0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0001251HP:0001251Ataxia0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0001251HP:0001251Ataxia0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040281 - Very frequent111
HP:0001251HP:0001251Ataxia0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0001251HP:0001251Ataxia0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040281 - Very frequent30
HP:0001251HP:0001251Ataxia0FOXI1 CL E G H22993815ORPHA:705Pendred syndromeHP:0040283 - Occasional33
HP:0001251HP:0001251Ataxia0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0001251HP:0001251Ataxia0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0001251HP:0001251Ataxia0FRMD4A CL E G H5569125491OMIM:616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia.1
HP:0001251HP:0001251Ataxia0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome1
HP:0001251HP:0001251Ataxia0FRMD5 CL E G H8497828214OMIM:620094
HP:0001251HP:0001251Ataxia0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0001251HP:0001251Ataxia0FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare50
HP:0001251HP:0001251Ataxia0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 3.33
HP:0001251HP:0001251Ataxia0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron disease105
HP:0001251HP:0001251Ataxia0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0001251HP:0001251Ataxia0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0001251HP:0001251Ataxia0FXN CL E G H23953951ORPHA:95Friedreich ataxia18
HP:0001251HP:0001251Ataxia0FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0001251HP:0001251Ataxia0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0001251HP:0001251Ataxia0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0001251HP:0001251Ataxia0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0001251HP:0001251Ataxia0GABRA1 CL E G H25544075ORPHA:33069Dravet syndrome134
HP:0001251HP:0001251Ataxia0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0001251HP:0001251Ataxia0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0GABRB1 CL E G H25604081OMIM:617153Epileptic encephalopathy, early infantile, 45.3
HP:0001251HP:0001251Ataxia0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2.44
HP:0001251HP:0001251Ataxia0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0001251HP:0001251Ataxia0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 43.57
HP:0001251HP:0001251Ataxia0GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional10
HP:0001251HP:0001251Ataxia0GABRG2 CL E G H25664087ORPHA:33069Dravet syndrome139
HP:0001251HP:0001251Ataxia0GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional139
HP:0001251HP:0001251Ataxia0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0001251HP:0001251Ataxia0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040282 - Frequent160
HP:0001251HP:0001251Ataxia0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0001251HP:0001251Ataxia0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0001251HP:0001251Ataxia0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 2.91
HP:0001251HP:0001251Ataxia0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0001251HP:0001251Ataxia0GBA1 CL E G H26294177ORPHA:77261Gaucher disease type 3HP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0001251HP:0001251Ataxia0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001251HP:0001251Ataxia0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticity30
HP:0001251HP:0001251Ataxia0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040281 - Very frequent30
HP:0001251HP:0001251Ataxia0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0001251HP:0001251Ataxia0GBE1 CL E G H26324180ORPHA:206583Adult polyglucosan body diseaseHP:0040283 - Occasional86
HP:0001251HP:0001251Ataxia0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0001251HP:0001251Ataxia0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0001251HP:0001251Ataxia0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0001251HP:0001251Ataxia0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional237
HP:0001251HP:0001251Ataxia0GCLC CL E G H27294311ORPHA:33574Glutamate-cysteine ligase deficiencyHP:0040283 - Occasional2
HP:0001251HP:0001251Ataxia0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27
HP:0001251HP:0001251Ataxia0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001251HP:0001251Ataxia0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0001251HP:0001251Ataxia0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001251HP:0001251Ataxia0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0001251HP:0001251Ataxia0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0001251HP:0001251Ataxia0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0001251HP:0001251Ataxia0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0001251HP:0001251Ataxia0GJB1 CL E G H27054283ORPHA:101075X-linked Charcot-Marie-Tooth disease type 1HP:0040283 - Occasional107
HP:0001251HP:0001251Ataxia0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0001251HP:0001251Ataxia0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 44HP:0040281 - Very frequent37
HP:0001251HP:0001251Ataxia0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0001251HP:0001251Ataxia0GJC2 CL E G H5716517494OMIM:613206Spastic paraplegia 44, autosomal recessive37
HP:0001251HP:0001251Ataxia0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II.120
HP:0001251HP:0001251Ataxia0GLRA1 CL E G H27414326ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent63
HP:0001251HP:0001251Ataxia0GLRB CL E G H27434329ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent46
HP:0001251HP:0001251Ataxia0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040283 - Occasional17
HP:0001251HP:0001251Ataxia0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0001251HP:0001251Ataxia0GLS CL E G H27444331OMIM:618412Global developmental delay, progressive ataxia, and elevated glutamine
HP:0001251HP:0001251Ataxia0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0001251HP:0001251Ataxia0GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0001251HP:0001251Ataxia0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0001251HP:0001251Ataxia0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0001251HP:0001251Ataxia0GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 6.88
HP:0001251HP:0001251Ataxia0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001251HP:0001251Ataxia0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0001251HP:0001251Ataxia0GPHN CL E G H1024315465ORPHA:3197Hereditary hyperekplexiaHP:0040281 - Very frequent18
HP:0001251HP:0001251Ataxia0GPI CL E G H28214458OMIM:613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency.12
HP:0001251HP:0001251Ataxia0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0001251HP:0001251Ataxia0GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency18
HP:0001251HP:0001251Ataxia0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0001251HP:0001251Ataxia0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0001251HP:0001251Ataxia0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0001251HP:0001251Ataxia0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndrome434
HP:0001251HP:0001251Ataxia0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0001251HP:0001251Ataxia0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency8
HP:0001251HP:0001251Ataxia0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0001251HP:0001251Ataxia0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0001251HP:0001251Ataxia0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0001251HP:0001251Ataxia0GRN CL E G H28964601OMIM:614706Ceroid lipofuscinosis, neuronal, 11.126
HP:0001251HP:0001251Ataxia0GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040282 - Frequent53
HP:0001251HP:0001251Ataxia0GSS CL E G H29374624OMIM:266130Glutathione synthetase deficiency.39
HP:0001251HP:0001251Ataxia0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0001251HP:0001251Ataxia0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0001251HP:0001251Ataxia0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001251HP:0001251Ataxia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001251HP:0001251Ataxia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001251HP:0001251Ataxia0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0001251HP:0001251Ataxia0H4C5 CL E G H83674790OMIM:619950
HP:0001251HP:0001251Ataxia0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures.10
HP:0001251HP:0001251Ataxia0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0001251HP:0001251Ataxia0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0HARS1 CL E G H30354816OMIM:614504Usher syndrome, type IIIB.
HP:0001251HP:0001251Ataxia0HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 24HP:0040283 - Occasional54
HP:0001251HP:0001251Ataxia0HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional54
HP:0001251HP:0001251Ataxia0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0001251HP:0001251Ataxia0HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.82
HP:0001251HP:0001251Ataxia0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A.82
HP:0001251HP:0001251Ataxia0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation16
HP:0001251HP:0001251Ataxia0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0001251HP:0001251Ataxia0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0001251HP:0001251Ataxia0HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0001251HP:0001251Ataxia0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0001251HP:0001251Ataxia0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0001251HP:0001251Ataxia0HIBCH CL E G H262754908OMIM:2506203-Hydroxyisobutyryl-Coa hydrolase deficiency.32
HP:0001251HP:0001251Ataxia0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0001251HP:0001251Ataxia0HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndromeHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13HP:0040283 - Occasional3
HP:0001251HP:0001251Ataxia0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0001251HP:0001251Ataxia0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0001251HP:0001251Ataxia0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0001251HP:0001251Ataxia0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0001251HP:0001251Ataxia0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001251HP:0001251Ataxia0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0001251HP:0001251Ataxia0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease
HP:0001251HP:0001251Ataxia0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0001251HP:0001251Ataxia0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040283 - Occasional148
HP:0001251HP:0001251Ataxia0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduriaHP:0040284 - Very rare35
HP:0001251HP:0001251Ataxia0HNRNPH1 CL E G H31875041OMIM:620083
HP:0001251HP:0001251Ataxia0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0001251HP:0001251Ataxia0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0001251HP:0001251Ataxia0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0001251HP:0001251Ataxia0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 198
HP:0001251HP:0001251Ataxia0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0001251HP:0001251Ataxia0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001251HP:0001251Ataxia0HTT CL E G H30644851OMIM:143100Huntington disease12
HP:0001251HP:0001251Ataxia0HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040282 - Frequent12
HP:0001251HP:0001251Ataxia0HYLS1 CL E G H21984426558ORPHA:475Joubert syndromeHP:0040281 - Very frequent31
HP:0001251HP:0001251Ataxia0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0001251HP:0001251Ataxia0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 181
HP:0001251HP:0001251Ataxia0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0001251HP:0001251Ataxia0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0001251HP:0001251Ataxia0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0001251HP:0001251Ataxia0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0001251HP:0001251Ataxia0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0001251HP:0001251Ataxia0INPP5E CL E G H5662321474ORPHA:475Joubert syndromeHP:0040281 - Very frequent111
HP:0001251HP:0001251Ataxia0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0001251HP:0001251Ataxia0INPP5E CL E G H5662321474ORPHA:1454Joubert syndrome with hepatic defectHP:0040281 - Very frequent111
HP:0001251HP:0001251Ataxia0INPP5E CL E G H5662321474ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent111
HP:0001251HP:0001251Ataxia0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent7
HP:0001251HP:0001251Ataxia0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional62
HP:0001251HP:0001251Ataxia0INVS CL E G H2713017870ORPHA:3156Senior-Loken syndromeHP:0040283 - Occasional106
HP:0001251HP:0001251Ataxia0IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndromeHP:0040283 - Occasional61
HP:0001251HP:0001251Ataxia0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001251HP:0001251Ataxia0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0001251HP:0001251Ataxia0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040283 - Occasional1
HP:0001251HP:0001251Ataxia0ITM2B CL E G H94456174OMIM:117300Dementia, familial danish3
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H37086180ORPHA:1065Aniridia-cerebellar ataxia-intellectual disability syndromeHP:0040281 - Very frequent177
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome.177
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15177
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29.177
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16HP:0040281 - Very frequent177
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040283 - Occasional177
HP:0001251HP:0001251Ataxia0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0001251HP:0001251Ataxia0KARS1 CL E G H37356215OMIM:619196DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0001251HP:0001251Ataxia0KATNIP CL E G H2324729068ORPHA:475Joubert syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0001251HP:0001251Ataxia0KCNA1 CL E G H37366218OMIM:160120Episodic ataxia, type 1145
HP:0001251HP:0001251Ataxia0KCNA1 CL E G H37366218ORPHA:972Hereditary continuous muscle fiber activityHP:0040282 - Frequent145
HP:0001251HP:0001251Ataxia0KCNA2 CL E G H37376220OMIM:616366Epileptic encephalopathy, early infantile, 32.13
HP:0001251HP:0001251Ataxia0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0001251HP:0001251Ataxia0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0001251HP:0001251Ataxia0KCNC1 CL E G H37466233OMIM:616187Epilepsy, progressive myoclonic 7HP:0040283 - Occasional6
HP:0001251HP:0001251Ataxia0KCNC2 CL E G H37476234OMIM:619913
HP:0001251HP:0001251Ataxia0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 1317
HP:0001251HP:0001251Ataxia0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0001251HP:0001251Ataxia0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0001251HP:0001251Ataxia0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040281 - Very frequent35
HP:0001251HP:0001251Ataxia0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040281 - Very frequent121
HP:0001251HP:0001251Ataxia0KCNJ10 CL E G H37666256ORPHA:705Pendred syndromeHP:0040283 - Occasional121
HP:0001251HP:0001251Ataxia0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0001251HP:0001251Ataxia0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040283 - Occasional127
HP:0001251HP:0001251Ataxia0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0001251HP:0001251Ataxia0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001251HP:0001251Ataxia0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0001251HP:0001251Ataxia0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3106
HP:0001251HP:0001251Ataxia0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0001251HP:0001251Ataxia0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0001251HP:0001251Ataxia0KIAA0586 CL E G H978619960ORPHA:475Joubert syndromeHP:0040281 - Very frequent24
HP:0001251HP:0001251Ataxia0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0001251HP:0001251Ataxia0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040282 - Frequent276
HP:0001251HP:0001251Ataxia0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessiveHP:0040282 - Frequent276
HP:0001251HP:0001251Ataxia0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0001251HP:0001251Ataxia0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0001251HP:0001251Ataxia0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0001251HP:0001251Ataxia0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominantHP:0040283 - Occasional93
HP:0001251HP:0001251Ataxia0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0001251HP:0001251Ataxia0KIT CL E G H38156342ORPHA:2884PiebaldismHP:0040283 - Occasional327
HP:0001251HP:0001251Ataxia0KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040282 - Frequent1
HP:0001251HP:0001251Ataxia0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0001251HP:0001251Ataxia0KNSTRN CL E G H9041730767ORPHA:221139Combined immunodeficiency with faciooculoskeletal anomaliesHP:0040282 - Frequent1
HP:0001251HP:0001251Ataxia0L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1HP:0040283 - Occasional134
HP:0001251HP:0001251Ataxia0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked
HP:0001251HP:0001251Ataxia0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040281 - Very frequent35
HP:0001251HP:0001251Ataxia0LARS2 CL E G H2339517095OMIM:615300Perrault syndrome 454
HP:0001251HP:0001251Ataxia0LETM1 CL E G H39546556OMIM:6200892
HP:0001251HP:0001251Ataxia0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040281 - Very frequent2
HP:0001251HP:0001251Ataxia0LGI3 CL E G H20319018711OMIM:620007
HP:0001251HP:0001251Ataxia0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0001251HP:0001251Ataxia0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0001251HP:0001251Ataxia0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophy21
HP:0001251HP:0001251Ataxia0LITAF CL E G H951616841OMIM:601098Charcot-Marie-Tooth disease, demyelinating, type 1C74
HP:0001251HP:0001251Ataxia0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040281 - Very frequent44
HP:0001251HP:0001251Ataxia0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0001251HP:0001251Ataxia0LMNB2 CL E G H848236638OMIM:616540Epilepsy, progressive myoclonic, 911
HP:0001251HP:0001251Ataxia0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
HP:0001251HP:0001251Ataxia0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0001251HP:0001251Ataxia0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0001251HP:0001251Ataxia0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0001251HP:0001251Ataxia0LRPPRC CL E G H1012815714OMIM:220111Leigh syndrome, french Canadian type.191
HP:0001251HP:0001251Ataxia0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0001251HP:0001251Ataxia0LYST CL E G H11301968ORPHA:167Chédiak-Higashi syndromeHP:0040283 - Occasional239
HP:0001251HP:0001251Ataxia0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0001251HP:0001251Ataxia0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0001251HP:0001251Ataxia0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 754
HP:0001251HP:0001251Ataxia0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0001251HP:0001251Ataxia0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0001251HP:0001251Ataxia0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0001251HP:0001251Ataxia0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040282 - Frequent136
HP:0001251HP:0001251Ataxia0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0001251HP:0001251Ataxia0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0001251HP:0001251Ataxia0MARS1 CL E G H41416898OMIM:619692TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0001251HP:0001251Ataxia0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathy25
HP:0001251HP:0001251Ataxia0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive25
HP:0001251HP:0001251Ataxia0MAST1 CL E G H2298319034OMIM:618273Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations.1
HP:0001251HP:0001251Ataxia0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040282 - Frequent252
HP:0001251HP:0001251Ataxia0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0001251HP:0001251Ataxia0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0001251HP:0001251Ataxia0MCOLN1 CL E G H5719213356ORPHA:578Mucolipidosis type IVHP:0040282 - Frequent78
HP:0001251HP:0001251Ataxia0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0001251HP:0001251Ataxia0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type.950
HP:0001251HP:0001251Ataxia0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13.950
HP:0001251HP:0001251Ataxia0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0001251HP:0001251Ataxia0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0001251HP:0001251Ataxia0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0001251HP:0001251Ataxia0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0001251HP:0001251Ataxia0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0001251HP:0001251Ataxia0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0001251HP:0001251Ataxia0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001251HP:0001251Ataxia0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7.120
HP:0001251HP:0001251Ataxia0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3HP:0040282 - Frequent
HP:0001251HP:0001251Ataxia0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0001251HP:0001251Ataxia0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0001251HP:0001251Ataxia0MKS1 CL E G H549037121ORPHA:475Joubert syndromeHP:0040281 - Very frequent127
HP:0001251HP:0001251Ataxia0MKS1 CL E G H549037121OMIM:617121JOUBERT SYNDROME 28; JBTS28127
HP:0001251HP:0001251Ataxia0MKS1 CL E G H549037121ORPHA:220493Joubert syndrome with ocular defectHP:0040281 - Very frequent127
HP:0001251HP:0001251Ataxia0MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.112
HP:0001251HP:0001251Ataxia0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0001251HP:0001251Ataxia0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0001251HP:0001251Ataxia0MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type50
HP:0001251HP:0001251Ataxia0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0001251HP:0001251Ataxia0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 4318
HP:0001251HP:0001251Ataxia0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0001251HP:0001251Ataxia0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0001251HP:0001251Ataxia0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0001251HP:0001251Ataxia0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0001251HP:0001251Ataxia0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0001251HP:0001251Ataxia0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia134
HP:0001251HP:0001251Ataxia0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040281 - Very frequent532
HP:0001251HP:0001251Ataxia0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1532
HP:0001251HP:0001251Ataxia0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0001251HP:0001251Ataxia0MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesisHP:0040284 - Very rare25
HP:0001251HP:0001251Ataxia0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0001251HP:0001251Ataxia0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0001251HP:0001251Ataxia0MTFMT CL E G H12326329666