Human Phenotype Ontology 
Grandparent Node:
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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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001251HP:0001251Ataxia0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM116213666605378
HP:0001251HP:0001251Ataxia0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM117413666605378
HP:0001251HP:0001251Ataxia0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM133821022612035
HP:0001251HP:0001251Ataxia0AARS2 CL E G H57505615889Leukoencephalopathy, progressive, with ovarian failure615889C4014588OMIM138721022612035
HP:0001251HP:0001251Ataxia0ABCB7 CL E G H222802ORPHA124648300135
HP:0001251HP:0001251Ataxia0ABCB7 CL E G H222802ORPHA125148300135
HP:0001251HP:0001251Ataxia0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1112559600509
HP:0001251HP:0001251Ataxia0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM1125359600509
HP:0001251HP:0001251Ataxia0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0001251HP:0001251Ataxia0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001251HP:0001251Ataxia0ABHD5 CL E G H5109998907ORPHA117321396604780
HP:0001251HP:0001251Ataxia0ABHD5 CL E G H5109998907ORPHA118421396604780
HP:0001251HP:0001251Ataxia0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM117321396604780
HP:0001251HP:0001251Ataxia0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM118421396604780
HP:0001251HP:0001251Ataxia0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0001251HP:0001251Ataxia0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0001251HP:0001251Ataxia0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM13101839607575
HP:0001251HP:0001251Ataxia0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM13901839607575
HP:0001251HP:0001251Ataxia0AGRN CL E G H37579098914ORPHA11309329103320
HP:0001251HP:0001251Ataxia0AGRN CL E G H37579098914ORPHA11579329103320
HP:0001251HP:0001251Ataxia0AHI1 CL E G H54806220493ORPHA165021575608894
HP:0001251HP:0001251Ataxia0AHI1 CL E G H54806220493ORPHA182721575608894
HP:0001251HP:0001251Ataxia0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA165021575608894
HP:0001251HP:0001251Ataxia0AHI1 CL E G H54806475Acquired hypoprothrombinemiaORPHA182721575608894
HP:0001251HP:0001251Ataxia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM165021575608894
HP:0001251HP:0001251Ataxia0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM182721575608894
HP:0001251HP:0001251Ataxia0AKT1 CL E G H207201ORPHA1380391164730
HP:0001251HP:0001251Ataxia0AKT1 CL E G H207201ORPHA1417391164730
HP:0001251HP:0001251Ataxia0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1472408610045
HP:0001251HP:0001251Ataxia0ALDH5A1 CL E G H791522AFib amyloidosisCN244920ORPHA1537408610045
HP:0001251HP:0001251Ataxia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1472408610045
HP:0001251HP:0001251Ataxia0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1537408610045
HP:0001251HP:0001251Ataxia0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM131423157604566
HP:0001251HP:0001251Ataxia0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM140423157604566
HP:0001251HP:0001251Ataxia0ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM13926211300836
HP:0001251HP:0001251Ataxia0ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM14196211300836
HP:0001251HP:0001251Ataxia0AP5Z1 CL E G H9907306511ORPHA171322197613653
HP:0001251HP:0001251Ataxia0AP5Z1 CL E G H9907306511ORPHA178022197613653
HP:0001251HP:0001251Ataxia0APOB CL E G H338615558Hypobetalipoproteinemia, familial, 1615558CN182502OMIM12340603107730
HP:0001251HP:0001251Ataxia0APOB CL E G H338615558Hypobetalipoproteinemia, familial, 1615558CN182502OMIM12465603107730
HP:0001251HP:0001251Ataxia0APOPT1 CL E G H84334436271ORPHA112520492616003
HP:0001251HP:0001251Ataxia0APOPT1 CL E G H84334436271ORPHA112920492616003
HP:0001251HP:0001251Ataxia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112520492616003
HP:0001251HP:0001251Ataxia0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM112920492616003
HP:0001251HP:0001251Ataxia0APTX CL E G H548401168ORPHA123615984606350
HP:0001251HP:0001251Ataxia0APTX CL E G H548401168ORPHA125815984606350
HP:0001251HP:0001251Ataxia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM123615984606350
HP:0001251HP:0001251Ataxia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM125815984606350
HP:0001251HP:0001251Ataxia0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA118425419608922
HP:0001251HP:0001251Ataxia0ARL13B CL E G H200894475Acquired hypoprothrombinemiaORPHA122225419608922
HP:0001251HP:0001251Ataxia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM118425419608922
HP:0001251HP:0001251Ataxia0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM122225419608922
HP:0001251HP:0001251Ataxia0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA164694604695
HP:0001251HP:0001251Ataxia0ARL3 CL E G H403475Acquired hypoprothrombinemiaORPHA190694604695
HP:0001251HP:0001251Ataxia0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM164694604695
HP:0001251HP:0001251Ataxia0ARL3 CL E G H403618161JOUBERT SYNDROME 35618161OMIM190694604695
HP:0001251HP:0001251Ataxia0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA125120730617612
HP:0001251HP:0001251Ataxia0ARMC9 CL E G H80210475Acquired hypoprothrombinemiaORPHA138020730617612
HP:0001251HP:0001251Ataxia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0001251HP:0001251Ataxia0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0001251HP:0001251Ataxia0ARSG CL E G H22901231183ORPHA117424102610008
HP:0001251HP:0001251Ataxia0ARSG CL E G H22901231183ORPHA125024102610008
HP:0001251HP:0001251Ataxia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16229561611647
HP:0001251HP:0001251Ataxia0ARV1 CL E G H64801617020Epileptic encephalopathy, early infantile, 38617020C4310762OMIM16529561611647
HP:0001251HP:0001251Ataxia0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1423746608310
HP:0001251HP:0001251Ataxia0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1469746608310
HP:0001251HP:0001251Ataxia0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1423746608310
HP:0001251HP:0001251Ataxia0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1469746608310
HP:0001251HP:0001251Ataxia0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1481758603470
HP:0001251HP:0001251Ataxia0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1517758603470
HP:0001251HP:0001251Ataxia0ATAD1 CL E G H848963197Lateral body wall defectORPHA12725903614452
HP:0001251HP:0001251Ataxia0ATAD1 CL E G H848963197Lateral body wall defectORPHA17625903614452
HP:0001251HP:0001251Ataxia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0001251HP:0001251Ataxia0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0001251HP:0001251Ataxia0ATM CL E G H472100ORPHA110320795607585
HP:0001251HP:0001251Ataxia0ATM CL E G H472100ORPHA111382795607585
HP:0001251HP:0001251Ataxia0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM110320795607585
HP:0001251HP:0001251Ataxia0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM111382795607585
HP:0001251HP:0001251Ataxia0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM148730213610513
HP:0001251HP:0001251Ataxia0ATP13A2 CL E G H23400606693Parkinson disease 9606693C1847640OMIM160930213610513
HP:0001251HP:0001251Ataxia0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM148730213610513
HP:0001251HP:0001251Ataxia0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM160930213610513
HP:0001251HP:0001251Ataxia0ATP1A2 CL E G H477569ORPHA1726800182340
HP:0001251HP:0001251Ataxia0ATP1A2 CL E G H477569ORPHA1801800182340
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1625801182350
HP:0001251HP:0001251Ataxia0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1687801182350
HP:0001251HP:0001251Ataxia0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1292816300014
HP:0001251HP:0001251Ataxia0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1300816300014
HP:0001251HP:0001251Ataxia0ATP8A2 CL E G H517611766ORPHA112613533605870
HP:0001251HP:0001251Ataxia0ATP8A2 CL E G H517611766ORPHA119313533605870
HP:0001251HP:0001251Ataxia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM120918802608918
HP:0001251HP:0001251Ataxia0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM121918802608918
HP:0001251HP:0001251Ataxia0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1145890600529
HP:0001251HP:0001251Ataxia0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1177890600529
HP:0001251HP:0001251Ataxia0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA119624123614144
HP:0001251HP:0001251Ataxia0B9D1 CL E G H27077475Acquired hypoprothrombinemiaORPHA123024123614144
HP:0001251HP:0001251Ataxia0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM119624123614144
HP:0001251HP:0001251Ataxia0B9D1 CL E G H27077617120Joubert syndrome 27617120C4310706OMIM123024123614144
HP:0001251HP:0001251Ataxia0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1491966209901
HP:0001251HP:0001251Ataxia0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1582966209901
HP:0001251HP:0001251Ataxia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1384986608348
HP:0001251HP:0001251Ataxia0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1413986608348
HP:0001251HP:0001251Ataxia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1448987248611
HP:0001251HP:0001251Ataxia0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1478987248611
HP:0001251HP:0001251Ataxia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12491020603647
HP:0001251HP:0001251Ataxia0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM12791020603647
HP:0001251HP:0001251Ataxia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0001251HP:0001251Ataxia0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
HP:0001251HP:0001251Ataxia0BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0001251HP:0001251Ataxia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001251HP:0001251Ataxia0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001251HP:0001251Ataxia0BTD CL E G H68679241ORPHA13661122609019
HP:0001251HP:0001251Ataxia0BTD CL E G H68679241ORPHA14091122609019
HP:0001251HP:0001251Ataxia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0001251HP:0001251Ataxia0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0001251HP:0001251Ataxia0C12orf65 CL E G H91574613559Combined oxidative phosphorylation deficiency 7613559C3150801OMIM126784613541
HP:0001251HP:0001251Ataxia0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124025443614297
HP:0001251HP:0001251Ataxia0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM124825443614297
HP:0001251HP:0001251Ataxia0C9orf72 CL E G H203228401901ORPHA116128337614260
HP:0001251HP:0001251Ataxia0C9orf72 CL E G H203228401901ORPHA116528337614260
HP:0001251HP:0001251Ataxia0CA8 CL E G H7671766ORPHA1771382114815
HP:0001251HP:0001251Ataxia0CA8 CL E G H7671766ORPHA1831382114815
HP:0001251HP:0001251Ataxia0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1771382114815
HP:0001251HP:0001251Ataxia0CA8 CL E G H767613227Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3613227C2750509OMIM1831382114815
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H77397ORPHA120471388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H77397ORPHA123261388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H773569ORPHA120471388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H773569ORPHA123261388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H77371518ORPHA120471388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H77371518ORPHA123261388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM120471388601011
HP:0001251HP:0001251Ataxia0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM123261388601011
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H575452318ORPHA188129253612013
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H575452318ORPHA1106429253612013
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM188129253612013
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM1106429253612013
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA188129253612013
HP:0001251HP:0001251Ataxia0CC2D2A CL E G H575451454Common atrioventricular canalC0221215ORPHA1106429253612013
HP:0001251HP:0001251Ataxia0CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0001251HP:0001251Ataxia0CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0001251HP:0001251Ataxia0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA135424866616690
HP:0001251HP:0001251Ataxia0CEP104 CL E G H9731475Acquired hypoprothrombinemiaORPHA138424866616690
HP:0001251HP:0001251Ataxia0CEP120 CL E G H153241220493ORPHA121026690613446
HP:0001251HP:0001251Ataxia0CEP120 CL E G H153241220493ORPHA125026690613446
HP:0001251HP:0001251Ataxia0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA121026690613446
HP:0001251HP:0001251Ataxia0CEP120 CL E G H153241475Acquired hypoprothrombinemiaORPHA125026690613446
HP:0001251HP:0001251Ataxia0CEP290 CL E G H801842318ORPHA1153529021610142
HP:0001251HP:0001251Ataxia0CEP290 CL E G H801842318ORPHA1190229021610142
HP:0001251HP:0001251Ataxia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1153529021610142
HP:0001251HP:0001251Ataxia0CEP290 CL E G H80184610188Joubert syndrome 5610188C1857780OMIM1190229021610142
HP:0001251HP:0001251Ataxia0CEP41 CL E G H95681220493ORPHA129712370610523
HP:0001251HP:0001251Ataxia0CEP41 CL E G H95681220493ORPHA134712370610523
HP:0001251HP:0001251Ataxia0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA129712370610523
HP:0001251HP:0001251Ataxia0CEP41 CL E G H95681475Acquired hypoprothrombinemiaORPHA134712370610523
HP:0001251HP:0001251Ataxia0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM129712370610523
HP:0001251HP:0001251Ataxia0CEP41 CL E G H95681614464Joubert syndrome 15614464C3280897OMIM134712370610523
HP:0001251HP:0001251Ataxia0CEP78 CL E G H84131231183ORPHA128525740617110
HP:0001251HP:0001251Ataxia0CEP78 CL E G H84131231183ORPHA138925740617110
HP:0001251HP:0001251Ataxia0CHAT CL E G H110398914ORPHA15111912118490
HP:0001251HP:0001251Ataxia0CHAT CL E G H110398914ORPHA16521912118490
HP:0001251HP:0001251Ataxia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM120515559615903
HP:0001251HP:0001251Ataxia0CHCHD10 CL E G H400916615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2615911C4014648OMIM123015559615903
HP:0001251HP:0001251Ataxia0CHD2 CL E G H11061942ORPHA111631917602119
HP:0001251HP:0001251Ataxia0CHD2 CL E G H11061942ORPHA113261917602119
HP:0001251HP:0001251Ataxia0CIB2 CL E G H10518231169ORPHA113724579605564
HP:0001251HP:0001251Ataxia0CIB2 CL E G H10518231169ORPHA116324579605564
HP:0001251HP:0001251Ataxia0CISD2 CL E G H4938563463ORPHA12624212611507
HP:0001251HP:0001251Ataxia0CISD2 CL E G H4938563463ORPHA13824212611507
HP:0001251HP:0001251Ataxia0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM14492076608102
HP:0001251HP:0001251Ataxia0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM15092076608102
HP:0001251HP:0001251Ataxia0CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM14632077606725
HP:0001251HP:0001251Ataxia0CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM15102077606725
HP:0001251HP:0001251Ataxia0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM14312079607837
HP:0001251HP:0001251Ataxia0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM14832079607837
HP:0001251HP:0001251Ataxia0CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0001251HP:0001251Ataxia0CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0001251HP:0001251Ataxia0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM11022092118955
HP:0001251HP:0001251Ataxia0CLTC CL E G H1213617854MENTAL RETARDATION, AUTOSOMAL DOMINANT 56617854CN787270OMIM12022092118955
HP:0001251HP:0001251Ataxia0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1133913830604569
HP:0001251HP:0001251Ataxia0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1150513830604569
HP:0001251HP:0001251Ataxia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12725716615623
HP:0001251HP:0001251Ataxia0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13125716615623
HP:0001251HP:0001251Ataxia0COG4 CL E G H25839263501ORPHA122118620606976
HP:0001251HP:0001251Ataxia0COG4 CL E G H25839263501ORPHA124718620606976
HP:0001251HP:0001251Ataxia0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM122118620606976
HP:0001251HP:0001251Ataxia0COG4 CL E G H25839613489Congenital disorder of glycosylation type 2J613489C3150736OMIM124718620606976
HP:0001251HP:0001251Ataxia0COL13A1 CL E G H130598914ORPHA11792190120350
HP:0001251HP:0001251Ataxia0COL13A1 CL E G H130598914ORPHA12942190120350
HP:0001251HP:0001251Ataxia0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM17612195120328
HP:0001251HP:0001251Ataxia0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM114972195120328
HP:0001251HP:0001251Ataxia0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0001251HP:0001251Ataxia0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0001251HP:0001251Ataxia0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0001251HP:0001251Ataxia0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0001251HP:0001251Ataxia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12472260602125
HP:0001251HP:0001251Ataxia0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12632260602125
HP:0001251HP:0001251Ataxia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12472260602125
HP:0001251HP:0001251Ataxia0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM12632260602125
HP:0001251HP:0001251Ataxia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12428216614478
HP:0001251HP:0001251Ataxia0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM12828216614478
HP:0001251HP:0001251Ataxia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12162263603646
HP:0001251HP:0001251Ataxia0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM12332263603646
HP:0001251HP:0001251Ataxia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM113926970614698
HP:0001251HP:0001251Ataxia0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM115526970614698
HP:0001251HP:0001251Ataxia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1442280124089
HP:0001251HP:0001251Ataxia0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1522280124089
HP:0001251HP:0001251Ataxia0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1182294123870
HP:0001251HP:0001251Ataxia0CP CL E G H135648818ORPHA14662295117700
HP:0001251HP:0001251Ataxia0CP CL E G H135648818ORPHA15712295117700
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H652502754ORPHA182425801614571
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H652502754ORPHA1123925801614571
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA182425801614571
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H65250475Acquired hypoprothrombinemiaORPHA1123925801614571
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM182425801614571
HP:0001251HP:0001251Ataxia0CPLANE1 CL E G H65250614615Joubert syndrome 17614615C3553264OMIM1123925801614571
HP:0001251HP:0001251Ataxia0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM18142323608307
HP:0001251HP:0001251Ataxia0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM19102323608307
HP:0001251HP:0001251Ataxia0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA147626193611654
HP:0001251HP:0001251Ataxia0CSPP1 CL E G H79848475Acquired hypoprothrombinemiaORPHA168726193611654
HP:0001251HP:0001251Ataxia0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM147626193611654
HP:0001251HP:0001251Ataxia0CSPP1 CL E G H79848615636Joubert syndrome 21615636C3810212OMIM168726193611654
HP:0001251HP:0001251Ataxia0CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12242482601145
HP:0001251HP:0001251Ataxia0CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12412482601145
HP:0001251HP:0001251Ataxia0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM172926169613129
HP:0001251HP:0001251Ataxia0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM191826169613129
HP:0001251HP:0001251Ataxia0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0001251HP:0001251Ataxia0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0001251HP:0001251Ataxia0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1902510114025
HP:0001251HP:0001251Ataxia0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1932510114025
HP:0001251HP:0001251Ataxia0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14132529116840
HP:0001251HP:0001251Ataxia0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14652529116840
HP:0001251HP:0001251Ataxia0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11292531603539
HP:0001251HP:0001251Ataxia0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11402531603539
HP:0001251HP:0001251Ataxia0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM14392605606530
HP:0001251HP:0001251Ataxia0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM15992605606530
HP:0001251HP:0001251Ataxia0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1802661603448
HP:0001251HP:0001251Ataxia0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1812661603448
HP:0001251HP:0001251Ataxia0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM123625538610956
HP:0001251HP:0001251Ataxia0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM126625538610956
HP:0001251HP:0001251Ataxia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM14672698248610
HP:0001251HP:0001251Ataxia0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM15112698248610
HP:0001251HP:0001251Ataxia0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13572714300121
HP:0001251HP:0001251Ataxia0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM13682714300121
HP:0001251HP:0001251Ataxia0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM12772861126060
HP:0001251HP:0001251Ataxia0DHFR CL E G H1719613839Megaloblastic anemia due to dihydrofolate reductase deficiency613839C3151205OMIM13432861126060
HP:0001251HP:0001251Ataxia0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0001251HP:0001251Ataxia0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0001251HP:0001251Ataxia0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11682896608770
HP:0001251HP:0001251Ataxia0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM11992896608770
HP:0001251HP:0001251Ataxia0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13292898238331
HP:0001251HP:0001251Ataxia0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13552898238331
HP:0001251HP:0001251Ataxia0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM11612938612186
HP:0001251HP:0001251Ataxia0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM13062938612186
HP:0001251HP:0001251Ataxia0DNAJC19 CL E G H13111866634ORPHA17830528608977
HP:0001251HP:0001251Ataxia0DNAJC19 CL E G H13111866634ORPHA19530528608977
HP:0001251HP:0001251Ataxia0DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM134016235611203
HP:0001251HP:0001251Ataxia0DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM135916235611203
HP:0001251HP:0001251Ataxia0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM17492976126375
HP:0001251HP:0001251Ataxia0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM18322976126375
HP:0001251HP:0001251Ataxia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11563005603503
HP:0001251HP:0001251Ataxia0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM11883005603503
HP:0001251HP:0001251Ataxia0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM12333180131244
HP:0001251HP:0001251Ataxia0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM12583180131244
HP:0001251HP:0001251Ataxia0ELP1 CL E G H85181764ORPHA110545959603722
HP:0001251HP:0001251Ataxia0ELP1 CL E G H85181764ORPHA111815959603722
HP:0001251HP:0001251Ataxia0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0001251HP:0001251Ataxia0ERCC2 CL E G H2068220295ORPHA13603434126340
HP:0001251HP:0001251Ataxia0ERCC2 CL E G H2068220295ORPHA14793434126340
HP:0001251HP:0001251Ataxia0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0001251HP:0001251Ataxia0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0001251HP:0001251Ataxia0ERCC3 CL E G H2071220295ORPHA11863435133510
HP:0001251HP:0001251Ataxia0ERCC3 CL E G H2071220295ORPHA12833435133510
HP:0001251HP:0001251Ataxia0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0001251HP:0001251Ataxia0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0001251HP:0001251Ataxia0ERCC4 CL E G H2072220295ORPHA14693436133520
HP:0001251HP:0001251Ataxia0ERCC4 CL E G H2072220295ORPHA15383436133520
HP:0001251HP:0001251Ataxia0ERCC5 CL E G H2073220295ORPHA13613437133530
HP:0001251HP:0001251Ataxia0ERCC5 CL E G H2073220295ORPHA13743437133530
HP:0001251HP:0001251Ataxia0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0001251HP:0001251Ataxia0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0001251HP:0001251Ataxia0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0001251HP:0001251Ataxia0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0001251HP:0001251Ataxia0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13103439609412
HP:0001251HP:0001251Ataxia0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM13433439609412
HP:0001251HP:0001251Ataxia0ETHE1 CL E G H2347451188ORPHA120423287608451
HP:0001251HP:0001251Ataxia0ETHE1 CL E G H2347451188ORPHA122623287608451
HP:0001251HP:0001251Ataxia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM120423287608451
HP:0001251HP:0001251Ataxia0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM122623287608451
HP:0001251HP:0001251Ataxia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM127029160612322
HP:0001251HP:0001251Ataxia0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM129429160612322
HP:0001251HP:0001251Ataxia0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM132624682609144
HP:0001251HP:0001251Ataxia0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM139124682609144
HP:0001251HP:0001251Ataxia0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15725491616305
HP:0001251HP:0001251Ataxia0FRMD4A CL E G H55691616819Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia616819C4225193OMIM15825491616305
HP:0001251HP:0001251Ataxia0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM131829007300838
HP:0001251HP:0001251Ataxia0FRMPD4 CL E G H9758300983Mental retardation, X-linked 104300983C4310817OMIM133629007300838
HP:0001251HP:0001251Ataxia0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11093999134790
HP:0001251HP:0001251Ataxia0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11383999134790
HP:0001251HP:0001251Ataxia0GABRA1 CL E G H255433069ORPHA14184075137160
HP:0001251HP:0001251Ataxia0GABRA1 CL E G H255433069ORPHA14584075137160
HP:0001251HP:0001251Ataxia0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM1494081137190
HP:0001251HP:0001251Ataxia0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM1964081137190
HP:0001251HP:0001251Ataxia0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM13214082600232
HP:0001251HP:0001251Ataxia0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM13584082600232
HP:0001251HP:0001251Ataxia0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM16454083137192
HP:0001251HP:0001251Ataxia0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM16914083137192
HP:0001251HP:0001251Ataxia0GABRG2 CL E G H256633069ORPHA14254087137164
HP:0001251HP:0001251Ataxia0GABRG2 CL E G H256633069ORPHA14804087137164
HP:0001251HP:0001251Ataxia0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM13904136601240
HP:0001251HP:0001251Ataxia0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM14434136601240
HP:0001251HP:0001251Ataxia0GBA CL E G H262977261ORPHA12614177606463
HP:0001251HP:0001251Ataxia0GBA CL E G H262977261ORPHA12694177606463
HP:0001251HP:0001251Ataxia0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM12614177606463
HP:0001251HP:0001251Ataxia0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM12694177606463
HP:0001251HP:0001251Ataxia0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM12844235137780
HP:0001251HP:0001251Ataxia0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM13164235137780
HP:0001251HP:0001251Ataxia0GJA1 CL E G H26972710Hm syndromeORPHA11694274121014
HP:0001251HP:0001251Ataxia0GJA1 CL E G H26972710Hm syndromeORPHA11914274121014
HP:0001251HP:0001251Ataxia0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11694274121014
HP:0001251HP:0001251Ataxia0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11914274121014
HP:0001251HP:0001251Ataxia0GJC2 CL E G H57165320401ORPHA117417494608803
HP:0001251HP:0001251Ataxia0GJC2 CL E G H57165320401ORPHA122117494608803
HP:0001251HP:0001251Ataxia0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM117417494608803
HP:0001251HP:0001251Ataxia0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM122117494608803
HP:0001251HP:0001251Ataxia0GLB1 CL E G H2720230600GM1 gangliosidosis type 2230600C0268272OMIM15074298611458
HP:0001251HP:0001251Ataxia0GLB1 CL E G H2720230600GM1 gangliosidosis type 2230600C0268272OMIM15964298611458
HP:0001251HP:0001251Ataxia0GLRA1 CL E G H27413197Lateral body wall defectORPHA12994326138491
HP:0001251HP:0001251Ataxia0GLRA1 CL E G H27413197Lateral body wall defectORPHA13424326138491
HP:0001251HP:0001251Ataxia0GLRB CL E G H27433197Lateral body wall defectORPHA11574329138492
HP:0001251HP:0001251Ataxia0GLRB CL E G H27433197Lateral body wall defectORPHA12394329138492
HP:0001251HP:0001251Ataxia0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0001251HP:0001251Ataxia0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0001251HP:0001251Ataxia0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12174431604027
HP:0001251HP:0001251Ataxia0GOSR2 CL E G H9570614018Epilepsy, progressive myoclonic 6614018C3279627OMIM12524431604027
HP:0001251HP:0001251Ataxia0GPHN CL E G H102433197Lateral body wall defectORPHA127615465603930
HP:0001251HP:0001251Ataxia0GPHN CL E G H102433197Lateral body wall defectORPHA137415465603930
HP:0001251HP:0001251Ataxia0GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM1694458172400
HP:0001251HP:0001251Ataxia0GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM1774458172400
HP:0001251HP:0001251Ataxia0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM13024601138945
HP:0001251HP:0001251Ataxia0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM13584601138945
HP:0001251HP:0001251Ataxia0GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM11224624601002
HP:0001251HP:0001251Ataxia0GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM11444624601002
HP:0001251HP:0001251Ataxia0HACE1 CL E G H57531464282ORPHA17621033610876
HP:0001251HP:0001251Ataxia0HACE1 CL E G H57531464282ORPHA19121033610876
HP:0001251HP:0001251Ataxia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM17621033610876
HP:0001251HP:0001251Ataxia0HACE1 CL E G H57531616756Spastic paraplegia and psychomotor retardation with or without seizures616756C4225215OMIM19121033610876
HP:0001251HP:0001251Ataxia0HARS CL E G H3035231183ORPHA14816142810
HP:0001251HP:0001251Ataxia0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM120626361611642
HP:0001251HP:0001251Ataxia0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM123126361611642
HP:0001251HP:0001251Ataxia0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM120626361611642
HP:0001251HP:0001251Ataxia0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM123126361611642
HP:0001251HP:0001251Ataxia0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13614879606873
HP:0001251HP:0001251Ataxia0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM13974879606873
HP:0001251HP:0001251Ataxia0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11865042300610
HP:0001251HP:0001251Ataxia0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM11915042300610
HP:0001251HP:0001251Ataxia0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11649476602194
HP:0001251HP:0001251Ataxia0HTRA1 CL E G H5654600142Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy600142C1838577OMIM11969476602194
HP:0001251HP:0001251Ataxia0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA117726558610693
HP:0001251HP:0001251Ataxia0HYLS1 CL E G H219844475Acquired hypoprothrombinemiaORPHA119926558610693
HP:0001251HP:0001251Ataxia0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM185129077614620
HP:0001251HP:0001251Ataxia0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1109829077614620
HP:0001251HP:0001251Ataxia0INPP5E CL E G H56623220493ORPHA146621474613037
HP:0001251HP:0001251Ataxia0INPP5E CL E G H56623220493ORPHA155921474613037
HP:0001251HP:0001251Ataxia0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA146621474613037
HP:0001251HP:0001251Ataxia0INPP5E CL E G H56623475Acquired hypoprothrombinemiaORPHA155921474613037
HP:0001251HP:0001251Ataxia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA146621474613037
HP:0001251HP:0001251Ataxia0INPP5E CL E G H566231454Common atrioventricular canalC0221215ORPHA155921474613037
HP:0001251HP:0001251Ataxia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM146621474613037
HP:0001251HP:0001251Ataxia0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM155921474613037
HP:0001251HP:0001251Ataxia0INPP5K CL E G H51763559ORPHA114533882607875
HP:0001251HP:0001251Ataxia0INPP5K CL E G H51763559ORPHA115333882607875
HP:0001251HP:0001251Ataxia0ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM1716174603904
HP:0001251HP:0001251Ataxia0ITM2B CL E G H9445117300Dementia, familial Danish117300C1861735OMIM1956174603904
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA18956180147265
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H37081065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA19696180147265
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM18956180147265
HP:0001251HP:0001251Ataxia0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM19696180147265
HP:0001251HP:0001251Ataxia0KCNA1 CL E G H3736972ORPHA13906218176260
HP:0001251HP:0001251Ataxia0KCNA1 CL E G H3736972ORPHA14386218176260
HP:0001251HP:0001251Ataxia0KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM12486220176262
HP:0001251HP:0001251Ataxia0KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM12796220176262
HP:0001251HP:0001251Ataxia0KCNJ10 CL E G H3766199343ORPHA12896256602208
HP:0001251HP:0001251Ataxia0KCNJ10 CL E G H3766199343ORPHA13196256602208
HP:0001251HP:0001251Ataxia0KIAA0556 CL E G H23247475Acquired hypoprothrombinemiaORPHA129068616650
HP:0001251HP:0001251Ataxia0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA133819960610178
HP:0001251HP:0001251Ataxia0KIAA0586 CL E G H9786475Acquired hypoprothrombinemiaORPHA166219960610178
HP:0001251HP:0001251Ataxia0KIAA0753 CL E G H98512754ORPHA112229110617112
HP:0001251HP:0001251Ataxia0KIAA0753 CL E G H98512754ORPHA118429110617112
HP:0001251HP:0001251Ataxia0KIF1A CL E G H547101010ORPHA11441888601255
HP:0001251HP:0001251Ataxia0KIF1A CL E G H547101010ORPHA11735888601255
HP:0001251HP:0001251Ataxia0KIF7 CL E G H3746542754ORPHA154030497611254
HP:0001251HP:0001251Ataxia0KIF7 CL E G H3746542754ORPHA181330497611254
HP:0001251HP:0001251Ataxia0KLLN CL E G H100144748201ORPHA124837212612105
HP:0001251HP:0001251Ataxia0KLLN CL E G H100144748201ORPHA127037212612105
HP:0001251HP:0001251Ataxia0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA11886556604407
HP:0001251HP:0001251Ataxia0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA12286556604407
HP:0001251HP:0001251Ataxia0LMBRD1 CL E G H5578879284ORPHA115723038612625
HP:0001251HP:0001251Ataxia0LMBRD1 CL E G H5578879284ORPHA119323038612625
HP:0001251HP:0001251Ataxia0LMNB1 CL E G H400199027ORPHA11296637150340
HP:0001251HP:0001251Ataxia0LMNB1 CL E G H400199027ORPHA11516637150340
HP:0001251HP:0001251Ataxia0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11296637150340
HP:0001251HP:0001251Ataxia0LMNB1 CL E G H4001169500Leukodystrophy, adult-onset, autosomal dominant169500C1868512OMIM11516637150340
HP:0001251HP:0001251Ataxia0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM181115714607544
HP:0001251HP:0001251Ataxia0LRPPRC CL E G H10128220111Leigh syndrome, French Canadian type220111C1857355OMIM189115714607544
HP:0001251HP:0001251Ataxia0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM16328072615831
HP:0001251HP:0001251Ataxia0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM16628072615831
HP:0001251HP:0001251Ataxia0MAST1 CL E G H22983618273618273618273OMIM15019034612256
HP:0001251HP:0001251Ataxia0MAST1 CL E G H22983618273618273618273OMIM15719034612256
HP:0001251HP:0001251Ataxia0MBD5 CL E G H55777228402ORPHA187820444611472
HP:0001251HP:0001251Ataxia0MBD5 CL E G H55777228402ORPHA199320444611472
HP:0001251HP:0001251Ataxia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM187820444611472
HP:0001251HP:0001251Ataxia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM199320444611472
HP:0001251HP:0001251Ataxia0MCOLN1 CL E G H57192578Akesson syndromeORPHA141813356605248
HP:0001251HP:0001251Ataxia0MCOLN1 CL E G H57192578Akesson syndromeORPHA144813356605248
HP:0001251HP:0001251Ataxia0MECP2 CL E G H4204778ORPHA116036990300005
HP:0001251HP:0001251Ataxia0MECP2 CL E G H4204778ORPHA116846990300005
HP:0001251HP:0001251Ataxia0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116036990300005
HP:0001251HP:0001251Ataxia0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116846990300005
HP:0001251HP:0001251Ataxia0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM116036990300005
HP:0001251HP:0001251Ataxia0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM116846990300005
HP:0001251HP:0001251Ataxia0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM16019691608205
HP:0001251HP:0001251Ataxia0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM17319691608205
HP:0001251HP:0001251Ataxia0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM156622962608771
HP:0001251HP:0001251Ataxia0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM159622962608771
HP:0001251HP:0001251Ataxia0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM151828486611124
HP:0001251HP:0001251Ataxia0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM159528486611124
HP:0001251HP:0001251Ataxia0MICOS13 CL E G H12598867047ORPHA11933702616658
HP:0001251HP:0001251Ataxia0MICOS13 CL E G H12598867047ORPHA12033702616658
HP:0001251HP:0001251Ataxia0MKS1 CL E G H54903220493ORPHA14777121609883
HP:0001251HP:0001251Ataxia0MKS1 CL E G H54903220493ORPHA15537121609883
HP:0001251HP:0001251Ataxia0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA14777121609883
HP:0001251HP:0001251Ataxia0MKS1 CL E G H54903475Acquired hypoprothrombinemiaORPHA15537121609883
HP:0001251HP:0001251Ataxia0MKS1 CL E G H54903617121Joubert syndrome 28617121C4310705OMIM14777121609883
HP:0001251HP:0001251Ataxia0MKS1 CL E G H54903617121Joubert syndrome 28617121C4310705OMIM15537121609883
HP:0001251HP:0001251Ataxia0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM148017082605908
HP:0001251HP:0001251Ataxia0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM150717082605908
HP:0001251HP:0001251Ataxia0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM1957207604041
HP:0001251HP:0001251Ataxia0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM11007207604041
HP:0001251HP:0001251Ataxia0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM11557224137960
HP:0001251HP:0001251Ataxia0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM11707224137960
HP:0001251HP:0001251Ataxia0MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001251HP:0001251Ataxia0MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0001251HP:0001251Ataxia0MT-ATP8 CL E G H4509480ORPHA17415516070
HP:0001251HP:0001251Ataxia0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0001251HP:0001251Ataxia0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0001251HP:0001251Ataxia0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0001251HP:0001251Ataxia0MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001251HP:0001251Ataxia0MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001251HP:0001251Ataxia0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0001251HP:0001251Ataxia0MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001251HP:0001251Ataxia0MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001251HP:0001251Ataxia0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0001251HP:0001251Ataxia0MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001251HP:0001251Ataxia0MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001251HP:0001251Ataxia0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0001251HP:0001251Ataxia0MT-ND5 CL E G H4540551ORPHA17461516005
HP:0001251HP:0001251Ataxia0MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001251HP:0001251Ataxia0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0001251HP:0001251Ataxia0MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001251HP:0001251Ataxia0MT-RNR1 CL E G H4549551ORPHA17470180450
HP:0001251HP:0001251Ataxia0MT-TF CL E G H4558550ORPHA17481590070
HP:0001251HP:0001251Ataxia0MT-TF CL E G H4558551ORPHA17481590070
HP:0001251HP:0001251Ataxia0MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001251HP:0001251Ataxia0MT-TH CL E G H4564550ORPHA17487590040
HP:0001251HP:0001251Ataxia0MT-TH CL E G H4564551ORPHA17487590040
HP:0001251HP:0001251Ataxia0MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001251HP:0001251Ataxia0MT-TK CL E G H4566551ORPHA17489590060
HP:0001251HP:0001251Ataxia0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001251HP:0001251Ataxia0MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001251HP:0001251Ataxia0MT-TL1 CL E G H4567480ORPHA17490590050
HP:0001251HP:0001251Ataxia0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0001251HP:0001251Ataxia0MT-TL1 CL E G H4567551ORPHA17490590050
HP:0001251HP:0001251Ataxia0MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001251HP:0001251Ataxia0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001251HP:0001251Ataxia0MT-TP CL E G H4571551ORPHA17494590075
HP:0001251HP:0001251Ataxia0MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001251HP:0001251Ataxia0MT-TQ CL E G H4572550ORPHA17495590030
HP:0001251HP:0001251Ataxia0MT-TQ CL E G H4572551ORPHA17495590030
HP:0001251HP:0001251Ataxia0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0001251HP:0001251Ataxia0MT-TS1 CL E G H4574551ORPHA17497590080
HP:0001251HP:0001251Ataxia0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001251HP:0001251Ataxia0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0001251HP:0001251Ataxia0MT-TS2 CL E G H4575551ORPHA17498590085
HP:0001251HP:0001251Ataxia0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0001251HP:0001251Ataxia0MT-TW CL E G H4578550ORPHA17501590095
HP:0001251HP:0001251Ataxia0MTTP CL E G H4547200100Abetalipoproteinaemia200100C0000744OMIM14427467157147
HP:0001251HP:0001251Ataxia0MTTP CL E G H4547200100Abetalipoproteinaemia200100C0000744OMIM15507467157147
HP:0001251HP:0001251Ataxia0MTTP CL E G H454714Bilateral squintCN228276ORPHA14427467157147
HP:0001251HP:0001251Ataxia0MTTP CL E G H454714Bilateral squintCN228276ORPHA15507467157147
HP:0001251HP:0001251Ataxia0MVK CL E G H459829ORPHA13717530251170
HP:0001251HP:0001251Ataxia0MVK CL E G H459829ORPHA14017530251170
HP:0001251HP:0001251Ataxia0MYO5A CL E G H464479476ORPHA12227602160777
HP:0001251HP:0001251Ataxia0MYO5A CL E G H464479476ORPHA12297602160777
HP:0001251HP:0001251Ataxia0MYO7A CL E G H4647231169ORPHA122237606276903
HP:0001251HP:0001251Ataxia0MYO7A CL E G H4647231169ORPHA125167606276903
HP:0001251HP:0001251Ataxia0MYO9A CL E G H464998914ORPHA11647608604875
HP:0001251HP:0001251Ataxia0MYO9A CL E G H464998914ORPHA11687608604875
HP:0001251HP:0001251Ataxia0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM17419237605202
HP:0001251HP:0001251Ataxia0NANS CL E G H54187610442Spondyloepimetaphyseal dysplasia Genevieve type610442C1864872OMIM110219237605202
HP:0001251HP:0001251Ataxia0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM16118453608862
HP:0001251HP:0001251Ataxia0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM19118453608862
HP:0001251HP:0001251Ataxia0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM116628625612392
HP:0001251HP:0001251Ataxia0NDUFAF6 CL E G H137682618239MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17618239OMIM118528625612392
HP:0001251HP:0001251Ataxia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM12637707157655
HP:0001251HP:0001251Ataxia0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13017707157655
HP:0001251HP:0001251Ataxia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0001251HP:0001251Ataxia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0001251HP:0001251Ataxia0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11307714601825
HP:0001251HP:0001251Ataxia0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11427714601825
HP:0001251HP:0001251Ataxia0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM11747716161015
HP:0001251HP:0001251Ataxia0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM12007716161015
HP:0001251HP:0001251Ataxia0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117112768606026
HP:0001251HP:0001251Ataxia0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA117512768606026
HP:0001251HP:0001251Ataxia0NEU1 CL E G H4758812ORPHA11157758608272
HP:0001251HP:0001251Ataxia0NEU1 CL E G H4758812ORPHA11347758608272
HP:0001251HP:0001251Ataxia0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM165029433300524
HP:0001251HP:0001251Ataxia0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM173629433300524
HP:0001251HP:0001251Ataxia0NF2 CL E G H4771637ORPHA110167773607379
HP:0001251HP:0001251Ataxia0NF2 CL E G H4771637ORPHA111677773607379
HP:0001251HP:0001251Ataxia0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM117011825600635
HP:0001251HP:0001251Ataxia0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM119411825600635
HP:0001251HP:0001251Ataxia0NKX6-2 CL E G H84504527497ORPHA111919321605955
HP:0001251HP:0001251Ataxia0NKX6-2 CL E G H84504527497ORPHA115119321605955
HP:0001251HP:0001251Ataxia0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM1147849156490
HP:0001251HP:0001251Ataxia0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1417869605235
HP:0001251HP:0001251Ataxia0NOL3 CL E G H8996614937Myoclonus, familial cortical614937C3539916OMIM1427869605235
HP:0001251HP:0001251Ataxia0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM11887871300084
HP:0001251HP:0001251Ataxia0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM11937871300084
HP:0001251HP:0001251Ataxia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM110857897607623
HP:0001251HP:0001251Ataxia0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM112887897607623
HP:0001251HP:0001251Ataxia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM112714537601015
HP:0001251HP:0001251Ataxia0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM114714537601015
HP:0001251HP:0001251Ataxia0NPHP1 CL E G H4867220497ORPHA15327905607100
HP:0001251HP:0001251Ataxia0NPHP1 CL E G H4867220497ORPHA16267905607100
HP:0001251HP:0001251Ataxia0NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM15327905607100
HP:0001251HP:0001251Ataxia0NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM16267905607100
HP:0001251HP:0001251Ataxia0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA124912766602952
HP:0001251HP:0001251Ataxia0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA126212766602952
HP:0001251HP:0001251Ataxia0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM122220278613621
HP:0001251HP:0001251Ataxia0NUBPL CL E G H80224618242MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21618242OMIM123120278613621
HP:0001251HP:0001251Ataxia0OFD1 CL E G H84812750ORPHA16472567300170
HP:0001251HP:0001251Ataxia0OFD1 CL E G H84812750ORPHA17232567300170
HP:0001251HP:0001251Ataxia0OFD1 CL E G H84812754ORPHA16472567300170
HP:0001251HP:0001251Ataxia0OFD1 CL E G H84812754ORPHA17232567300170
HP:0001251HP:0001251Ataxia0OGDH CL E G H496731Serpiginous choroiditisORPHA1778124613022
HP:0001251HP:0001251Ataxia0OGDH CL E G H496731Serpiginous choroiditisORPHA1908124613022
HP:0001251HP:0001251Ataxia0OPA3 CL E G H8020767036ORPHA13728142606580
HP:0001251HP:0001251Ataxia0OPA3 CL E G H8020767036ORPHA14018142606580
HP:0001251HP:0001251Ataxia0OPA3 CL E G H8020767047ORPHA13728142606580
HP:0001251HP:0001251Ataxia0OPA3 CL E G H8020767047ORPHA14018142606580
HP:0001251HP:0001251Ataxia0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM13728142606580
HP:0001251HP:0001251Ataxia0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14018142606580
HP:0001251HP:0001251Ataxia0OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM17418512300461
HP:0001251HP:0001251Ataxia0OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM17768512300461
HP:0001251HP:0001251Ataxia0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM126315894606157
HP:0001251HP:0001251Ataxia0PANK2 CL E G H80025234200Pigmentary pallidal degeneration234200C0018523OMIM133115894606157
HP:0001251HP:0001251Ataxia0PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA15778620607108
HP:0001251HP:0001251Ataxia0PAX6 CL E G H50801065Camptodactyly joint contractures and facial skeletal dysplasiaORPHA16328620607108
HP:0001251HP:0001251Ataxia0PCDH15 CL E G H65217231169ORPHA1170914674605514
HP:0001251HP:0001251Ataxia0PCDH15 CL E G H65217231169ORPHA1198514674605514
HP:0001251HP:0001251Ataxia0PCDH19 CL E G H5752633069ORPHA192114270300460
HP:0001251HP:0001251Ataxia0PCDH19 CL E G H5752633069ORPHA1103814270300460
HP:0001251HP:0001251Ataxia0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1408729176740
HP:0001251HP:0001251Ataxia0PDE6D CL E G H51472754ORPHA1418788602676
HP:0001251HP:0001251Ataxia0PDE6D CL E G H51472754ORPHA1578788602676
HP:0001251HP:0001251Ataxia0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM122921350608769
HP:0001251HP:0001251Ataxia0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM126421350608769
HP:0001251HP:0001251Ataxia0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM14340038614770
HP:0001251HP:0001251Ataxia0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15140038614770
HP:0001251HP:0001251Ataxia0PEX1 CL E G H5189772ORPHA17938850602136
HP:0001251HP:0001251Ataxia0PEX1 CL E G H5189772ORPHA19518850602136
HP:0001251HP:0001251Ataxia0PEX10 CL E G H5192772ORPHA14808851602859
HP:0001251HP:0001251Ataxia0PEX10 CL E G H5192772ORPHA15788851602859
HP:0001251HP:0001251Ataxia0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM14808851602859
HP:0001251HP:0001251Ataxia0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM15788851602859
HP:0001251HP:0001251Ataxia0PEX11B CL E G H8799772ORPHA12848853603867
HP:0001251HP:0001251Ataxia0PEX11B CL E G H8799772ORPHA13328853603867
HP:0001251HP:0001251Ataxia0PEX12 CL E G H5193772ORPHA12458854601758
HP:0001251HP:0001251Ataxia0PEX12 CL E G H5193772ORPHA13208854601758
HP:0001251HP:0001251Ataxia0PEX13 CL E G H5194772ORPHA12348855601789
HP:0001251HP:0001251Ataxia0PEX13 CL E G H5194772ORPHA13428855601789
HP:0001251HP:0001251Ataxia0PEX14 CL E G H5195772ORPHA12348856601791
HP:0001251HP:0001251Ataxia0PEX14 CL E G H5195772ORPHA13118856601791
HP:0001251HP:0001251Ataxia0PEX16 CL E G H9409772ORPHA12038857603360
HP:0001251HP:0001251Ataxia0PEX16 CL E G H9409772ORPHA12828857603360
HP:0001251HP:0001251Ataxia0PEX19 CL E G H5824772ORPHA11819713600279
HP:0001251HP:0001251Ataxia0PEX19 CL E G H5824772ORPHA12499713600279
HP:0001251HP:0001251Ataxia0PEX2 CL E G H5828772ORPHA12549717170993
HP:0001251HP:0001251Ataxia0PEX2 CL E G H5828772ORPHA13199717170993
HP:0001251HP:0001251Ataxia0PEX26 CL E G H55670772ORPHA131522965608666
HP:0001251HP:0001251Ataxia0PEX26 CL E G H55670772ORPHA139222965608666
HP:0001251HP:0001251Ataxia0PEX3 CL E G H8504772ORPHA11588858603164
HP:0001251HP:0001251Ataxia0PEX3 CL E G H8504772ORPHA12198858603164
HP:0001251HP:0001251Ataxia0PEX5 CL E G H5830772ORPHA14069719600414
HP:0001251HP:0001251Ataxia0PEX5 CL E G H5830772ORPHA15639719600414
HP:0001251HP:0001251Ataxia0PEX6 CL E G H5190772ORPHA16458859601498
HP:0001251HP:0001251Ataxia0PEX6 CL E G H5190772ORPHA18558859601498
HP:0001251HP:0001251Ataxia0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM16458859601498
HP:0001251HP:0001251Ataxia0PEX6 CL E G H5190614863Peroxisome biogenesis disorder 4B614863C3553937OMIM18558859601498
HP:0001251HP:0001251Ataxia0PEX7 CL E G H5191773ORPHA13108860601757
HP:0001251HP:0001251Ataxia0PEX7 CL E G H5191773ORPHA13638860601757
HP:0001251HP:0001251Ataxia0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13108860601757
HP:0001251HP:0001251Ataxia0PEX7 CL E G H5191266500Phytanic acid storage disease266500C0034960OMIM13638860601757
HP:0001251HP:0001251Ataxia0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM12288896311800
HP:0001251HP:0001251Ataxia0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM12458896311800
HP:0001251HP:0001251Ataxia0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM11638907172100
HP:0001251HP:0001251Ataxia0PGM3 CL E G H5238615816Immunodeficiency 23615816C4014371OMIM12178907172100
HP:0001251HP:0001251Ataxia0PHYH CL E G H5264773ORPHA12018940602026
HP:0001251HP:0001251Ataxia0PHYH CL E G H5264773ORPHA12608940602026
HP:0001251HP:0001251Ataxia0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12018940602026
HP:0001251HP:0001251Ataxia0PHYH CL E G H5264266500Phytanic acid storage disease266500C0034960OMIM12608940602026
HP:0001251HP:0001251Ataxia0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA19623352607532
HP:0001251HP:0001251Ataxia0PIBF1 CL E G H10464475Acquired hypoprothrombinemiaORPHA110423352607532
HP:0001251HP:0001251Ataxia0PIBF1 CL E G H10464617767JOUBERT SYNDROME 33617767C4540389OMIM19623352607532
HP:0001251HP:0001251Ataxia0PIBF1 CL E G H10464617767JOUBERT SYNDROME 33617767C4540389OMIM110423352607532
HP:0001251HP:0001251Ataxia0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM157225985616918
HP:0001251HP:0001251Ataxia0PIGG CL E G H54872616917Mental retardation, autosomal recessive 53616917C4310794OMIM172925985616918
HP:0001251HP:0001251Ataxia0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM111814938610272
HP:0001251HP:0001251Ataxia0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM114214938610272
HP:0001251HP:0001251Ataxia0PIK3CA CL E G H5290201ORPHA15448975171834
HP:0001251HP:0001251Ataxia0PIK3CA CL E G H5290201ORPHA16138975171834
HP:0001251HP:0001251Ataxia0PIK3R5 CL E G H2353364753ORPHA14830035611317
HP:0001251HP:0001251Ataxia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM14319039603604
HP:0001251HP:0001251Ataxia0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15139039603604
HP:0001251HP:0001251Ataxia0PLEKHG4 CL E G H2589498765ORPHA14024501609526
HP:0001251HP:0001251Ataxia0PLEKHG4 CL E G H2589498765ORPHA14124501609526
HP:0001251HP:0001251Ataxia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13359086300401
HP:0001251HP:0001251Ataxia0PLP1 CL E G H5354312080Pelizaeus-Merzbacher disease312080C0205711OMIM13659086300401
HP:0001251HP:0001251Ataxia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM14919115601785
HP:0001251HP:0001251Ataxia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM15429115601785
HP:0001251HP:0001251Ataxia0PMPCA CL E G H232031170ORPHA112818667613036
HP:0001251HP:0001251Ataxia0PMPCA CL E G H232031170ORPHA113418667613036
HP:0001251HP:0001251Ataxia0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM16809154605610
HP:0001251HP:0001251Ataxia0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM17699154605610
HP:0001251HP:0001251Ataxia0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM11667892164050
HP:0001251HP:0001251Ataxia0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM11877892164050
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H109081180ORPHA166916268603197
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H109081180ORPHA180816268603197
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM166916268603197
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM180816268603197
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA166916268603197
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA180816268603197
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H10908245800Laurence-Moon syndrome245800C0023138OMIM166916268603197
HP:0001251HP:0001251Ataxia0PNPLA6 CL E G H10908245800Laurence-Moon syndrome245800C0023138OMIM180816268603197
HP:0001251HP:0001251Ataxia0POLG CL E G H5428726ORPHA114709179174763
HP:0001251HP:0001251Ataxia0POLG CL E G H5428726ORPHA117129179174763
HP:0001251HP:0001251Ataxia0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM114709179174763
HP:0001251HP:0001251Ataxia0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM117129179174763
HP:0001251HP:0001251Ataxia0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM114709179174763
HP:0001251HP:0001251Ataxia0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM117129179174763
HP:0001251HP:0001251Ataxia0POLR1C CL E G H953388637ORPHA1101920194610060
HP:0001251HP:0001251Ataxia0POLR1C CL E G H953388637ORPHA1113120194610060
HP:0001251HP:0001251Ataxia0POLR3A CL E G H1112888637ORPHA148430074614258
HP:0001251HP:0001251Ataxia0POLR3A CL E G H1112888637ORPHA165430074614258
HP:0001251HP:0001251Ataxia0POLR3B CL E G H5570388637ORPHA129730348614366
HP:0001251HP:0001251Ataxia0POLR3B CL E G H5570388637ORPHA132630348614366
HP:0001251HP:0001251Ataxia0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM14209325600722
HP:0001251HP:0001251Ataxia0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM14549325600722
HP:0001251HP:0001251Ataxia0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM12949360170280
HP:0001251HP:0001251Ataxia0PRF1 CL E G H5551603553Hemophagocytic lymphohistiocytosis, familial, 2603553C1863727OMIM13549360170280
HP:0001251HP:0001251Ataxia0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11319449176640
HP:0001251HP:0001251Ataxia0PRNP CL E G H5621600072Fatal familial insomnia600072C0206042OMIM11469449176640
HP:0001251HP:0001251Ataxia0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13039462311850
HP:0001251HP:0001251Ataxia0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13219462311850
HP:0001251HP:0001251Ataxia0PRPS1 CL E G H56311187Cerebellar agenesisORPHA13039462311850
HP:0001251HP:0001251Ataxia0PRPS1 CL E G H56311187Cerebellar agenesisORPHA13219462311850
HP:0001251HP:0001251Ataxia0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM13039462311850
HP:0001251HP:0001251Ataxia0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM13219462311850
HP:0001251HP:0001251Ataxia0PRRT2 CL E G H112476569ORPHA159730500614386
HP:0001251HP:0001251Ataxia0PRRT2 CL E G H112476569ORPHA165930500614386
HP:0001251HP:0001251Ataxia0PRRT2 CL E G H11247631709ORPHA159730500614386
HP:0001251HP:0001251Ataxia0PRRT2 CL E G H11247631709ORPHA165930500614386
HP:0001251HP:0001251Ataxia0PTEN CL E G H5728201ORPHA122469588601728
HP:0001251HP:0001251Ataxia0PTEN CL E G H5728201ORPHA124169588601728
HP:0001251HP:0001251Ataxia0PTEN CL E G H572865285ORPHA122469588601728
HP:0001251HP:0001251Ataxia0PTEN CL E G H572865285ORPHA124169588601728
HP:0001251HP:0001251Ataxia0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM13724265608625
HP:0001251HP:0001251Ataxia0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM13924265608625
HP:0001251HP:0001251Ataxia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11649689612719
HP:0001251HP:0001251Ataxia0PTS CL E G H58052616406-pyruvoyl-tetrahydropterin synthase deficiency261640C0878676OMIM11859689612719
HP:0001251HP:0001251Ataxia0RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM126119816604040
HP:0001251HP:0001251Ataxia0RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM129289816604040
HP:0001251HP:0001251Ataxia0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM123330220611908
HP:0001251HP:0001251Ataxia0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM132430220611908
HP:0001251HP:0001251Ataxia0RIPK4 CL E G H541011401ORPHA1268496605706
HP:0001251HP:0001251Ataxia0RIPK4 CL E G H541011401ORPHA1272496605706
HP:0001251HP:0001251Ataxia0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM18618466604123
HP:0001251HP:0001251Ataxia0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM19518466604123
HP:0001251HP:0001251Ataxia0RNF168 CL E G H165918611943Riddle syndrome611943C2677792OMIM114726661612688
HP:0001251HP:0001251Ataxia0RNF168 CL E G H165918611943Riddle syndrome611943C2677792OMIM123226661612688
HP:0001251HP:0001251Ataxia0RNF216 CL E G H544761173CDG syndrome type 3ORPHA113421698609948
HP:0001251HP:0001251Ataxia0RNF216 CL E G H544761173CDG syndrome type 3ORPHA117921698609948
HP:0001251HP:0001251Ataxia0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM113421698609948
HP:0001251HP:0001251Ataxia0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM117921698609948
HP:0001251HP:0001251Ataxia0ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM133729478614574
HP:0001251HP:0001251Ataxia0ROGDI CL E G H79641226750Kohlschutter's syndrome226750C0406740OMIM139929478614574
HP:0001251HP:0001251Ataxia0RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM16510258600825
HP:0001251HP:0001251Ataxia0RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM16810258600825
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H23322220497ORPHA179429168610937
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H23322220497ORPHA196429168610937
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM179429168610937
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM196429168610937
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA179429168610937
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H233221454Common atrioventricular canalC0221215ORPHA196429168610937
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM179429168610937
HP:0001251HP:0001251Ataxia0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM196429168610937
HP:0001251HP:0001251Ataxia0RPIA CL E G H22934608611Deficiency of ribose-5-phosphate isomerase608611C1291609OMIM16410297180430
HP:0001251HP:0001251Ataxia0RPIA CL