Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Ataxia (HP:0001251)help
Parent Node:
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Gait disturbance (HP:0001288)help
..Starting node
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Gait ataxia (HP:0002066)help
Term ID: 2066
Name: Gait ataxia
Synonym: Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking
Definition: A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Comments:
Reference: HP:0002066
Genes and Diseases:
 
       Child Nodes:
........expandProgressive gait ataxia (HP:0007240) help
........expandAbasia (HP:0012651) help

 Sister Nodes: 
..expandBroad-based gait (HP:0002136) help
..expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
..expandCock-walk gait (HP:0031848) help
..expandDifficulty walking (HP:0002355) help
..expandDifficulty walking backward (HP:0031847) help
..expandFalls (HP:0002527) help
..expandFreezing of gait (HP:0031825) help
..expandGait apraxia (HP:0010521) help
..expandGait imbalance (HP:0002141) help
..expandHobby horse gait (HP:0031856) help
..expandImpaired tandem gait (HP:0031629) help
..expandInability to walk (HP:0002540) help
..expandScissor gait (HP:0012407) help
..expandShuffling gait (HP:0002362) help
..expandSteppage gait (HP:0003376) help
..expandTip-toe gait (HP:0030051) help
..expandToe walking (HP:0040083) help
..expandUnsteady gait (HP:0002317) help
..expandWaddling gait (HP:0002515) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002066HP:0002066Gait ataxia0ADAR CL E G H103225154ORPHA1654225146920
HP:0002066HP:0002066Gait ataxia0ADAR CL E G H103225154ORPHA1471225146920
HP:0002066HP:0002066Gait ataxia0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0002066HP:0002066Gait ataxia0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0002066HP:0002066Gait ataxia0AFG3L2 CL E G H10939101109ORPHA1357315604581
HP:0002066HP:0002066Gait ataxia0AFG3L2 CL E G H10939101109ORPHA1349315604581
HP:0002066HP:0002066Gait ataxia0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0002066HP:0002066Gait ataxia0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0002066HP:0002066Gait ataxia0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0002066HP:0002066Gait ataxia0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0002066HP:0002066Gait ataxia0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0002066HP:0002066Gait ataxia0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0002066HP:0002066Gait ataxia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM125815984606350
HP:0002066HP:0002066Gait ataxia0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM123615984606350
HP:0002066HP:0002066Gait ataxia0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0002066HP:0002066Gait ataxia0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0002066HP:0002066Gait ataxia0ATCAY CL E G H8530094122ORPHA1179779608179
HP:0002066HP:0002066Gait ataxia0ATCAY CL E G H8530094122ORPHA1175779608179
HP:0002066HP:0002066Gait ataxia0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1179779608179
HP:0002066HP:0002066Gait ataxia0ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1175779608179
HP:0002066HP:0002066Gait ataxia0ATN1 CL E G H1822101ORPHA11033033607462
HP:0002066HP:0002066Gait ataxia0ATN1 CL E G H1822101ORPHA1963033607462
HP:0002066HP:0002066Gait ataxia0ATP1A3 CL E G H47871517ORPHA1687801182350
HP:0002066HP:0002066Gait ataxia0ATP1A3 CL E G H47871517ORPHA1625801182350
HP:0002066HP:0002066Gait ataxia0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1687801182350
HP:0002066HP:0002066Gait ataxia0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1625801182350
HP:0002066HP:0002066Gait ataxia0ATXN10 CL E G H2581498761ORPHA110110549611150
HP:0002066HP:0002066Gait ataxia0ATXN10 CL E G H2581498761ORPHA19910549611150
HP:0002066HP:0002066Gait ataxia0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0002066HP:0002066Gait ataxia0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0002066HP:0002066Gait ataxia0ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002066HP:0002066Gait ataxia0ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002066HP:0002066Gait ataxia0ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0002066HP:0002066Gait ataxia0ATXN8OS CL E G H631598760ORPHA17210561603680
HP:0002066HP:0002066Gait ataxia0ATXN8OS CL E G H631598760ORPHA17610561603680
HP:0002066HP:0002066Gait ataxia0BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0002066HP:0002066Gait ataxia0BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0002066HP:0002066Gait ataxia0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM184721701614506
HP:0002066HP:0002066Gait ataxia0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM172521701614506
HP:0002066HP:0002066Gait ataxia0CACNA1A CL E G H77398758ORPHA123261388601011
HP:0002066HP:0002066Gait ataxia0CACNA1A CL E G H77398758ORPHA120471388601011
HP:0002066HP:0002066Gait ataxia0CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0002066HP:0002066Gait ataxia0CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0002066HP:0002066Gait ataxia0CAPN1 CL E G H823488594ORPHA11001476114220
HP:0002066HP:0002066Gait ataxia0CAPN1 CL E G H823488594ORPHA1841476114220
HP:0002066HP:0002066Gait ataxia0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1851527601047
HP:0002066HP:0002066Gait ataxia0CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1811527601047
HP:0002066HP:0002066Gait ataxia0CCDC88C CL E G H440193423275ORPHA126519967611204
HP:0002066HP:0002066Gait ataxia0CCDC88C CL E G H440193423275ORPHA125819967611204
HP:0002066HP:0002066Gait ataxia0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0002066HP:0002066Gait ataxia0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0002066HP:0002066Gait ataxia0CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM11942020600570
HP:0002066HP:0002066Gait ataxia0CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM11632020600570
HP:0002066HP:0002066Gait ataxia0COQ2 CL E G H27235227510ORPHA113725223609825
HP:0002066HP:0002066Gait ataxia0COQ2 CL E G H27235227510ORPHA117125223609825
HP:0002066HP:0002066Gait ataxia0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0002066HP:0002066Gait ataxia0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0002066HP:0002066Gait ataxia0CWF19L1 CL E G H55280453521ORPHA15925613616120
HP:0002066HP:0002066Gait ataxia0DKK1 CL E G H22943268882ORPHA1242891605189
HP:0002066HP:0002066Gait ataxia0DNAJC3 CL E G H5611445062ORPHA1909439601184
HP:0002066HP:0002066Gait ataxia0DNAJC3 CL E G H5611445062ORPHA1869439601184
HP:0002066HP:0002066Gait ataxia0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1909439601184
HP:0002066HP:0002066Gait ataxia0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1869439601184
HP:0002066HP:0002066Gait ataxia0DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0002066HP:0002066Gait ataxia0DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0002066HP:0002066Gait ataxia0DOCK3 CL E G H1795618292618292618292OMIM1462989603123
HP:0002066HP:0002066Gait ataxia0DOCK3 CL E G H1795618292618292618292OMIM1432989603123
HP:0002066HP:0002066Gait ataxia0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11743214130610
HP:0002066HP:0002066Gait ataxia0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11703214130610
HP:0002066HP:0002066Gait ataxia0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002066HP:0002066Gait ataxia0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002066HP:0002066Gait ataxia0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM121314415605512
HP:0002066HP:0002066Gait ataxia0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM117814415605512
HP:0002066HP:0002066Gait ataxia0ELOVL5 CL E G H60481423296ORPHA15221308611805
HP:0002066HP:0002066Gait ataxia0ELOVL5 CL E G H60481423296ORPHA14921308611805
HP:0002066HP:0002066Gait ataxia0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM15221308611805
HP:0002066HP:0002066Gait ataxia0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM14921308611805
HP:0002066HP:0002066Gait ataxia0ERMARD CL E G H5578075857ORPHA122021056615532
HP:0002066HP:0002066Gait ataxia0ERMARD CL E G H5578075857ORPHA119121056615532
HP:0002066HP:0002066Gait ataxia0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11693596604269
HP:0002066HP:0002066Gait ataxia0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11743596604269
HP:0002066HP:0002066Gait ataxia0FGF14 CL E G H225998764ORPHA11903671601515
HP:0002066HP:0002066Gait ataxia0FGF14 CL E G H225998764ORPHA11873671601515
HP:0002066HP:0002066Gait ataxia0FLVCR1 CL E G H2898288628ORPHA139124682609144
HP:0002066HP:0002066Gait ataxia0FLVCR1 CL E G H2898288628ORPHA132624682609144
HP:0002066HP:0002066Gait ataxia0FMR1 CL E G H233293256ORPHA13223775309550
HP:0002066HP:0002066Gait ataxia0FMR1 CL E G H233293256ORPHA13173775309550
HP:0002066HP:0002066Gait ataxia0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13223775309550
HP:0002066HP:0002066Gait ataxia0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13173775309550
HP:0002066HP:0002066Gait ataxia0FXN CL E G H239595ORPHA11313951606829
HP:0002066HP:0002066Gait ataxia0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11313951606829
HP:0002066HP:0002066Gait ataxia0GBA2 CL E G H57704352641ORPHA126218986609471
HP:0002066HP:0002066Gait ataxia0GBA2 CL E G H57704352641ORPHA124618986609471
HP:0002066HP:0002066Gait ataxia0GCH1 CL E G H264398808ORPHA12574193600225
HP:0002066HP:0002066Gait ataxia0GCH1 CL E G H264398808ORPHA13154193600225
HP:0002066HP:0002066Gait ataxia0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM12574193600225
HP:0002066HP:0002066Gait ataxia0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM13154193600225
HP:0002066HP:0002066Gait ataxia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0002066HP:0002066Gait ataxia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0002066HP:0002066Gait ataxia0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11514576602368
HP:0002066HP:0002066Gait ataxia0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11444576602368
HP:0002066HP:0002066Gait ataxia0GRM1 CL E G H2911324262ORPHA11934593604473
HP:0002066HP:0002066Gait ataxia0GRM1 CL E G H2911324262ORPHA11864593604473
HP:0002066HP:0002066Gait ataxia0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11934593604473
HP:0002066HP:0002066Gait ataxia0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11864593604473
HP:0002066HP:0002066Gait ataxia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0002066HP:0002066Gait ataxia0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0002066HP:0002066Gait ataxia0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15454867605109
HP:0002066HP:0002066Gait ataxia0HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15064867605109
HP:0002066HP:0002066Gait ataxia0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM16395213601860
HP:0002066HP:0002066Gait ataxia0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM15605213601860
HP:0002066HP:0002066Gait ataxia0HTT CL E G H3064248111ORPHA13934851613004
HP:0002066HP:0002066Gait ataxia0HTT CL E G H3064248111ORPHA11454851613004
HP:0002066HP:0002066Gait ataxia0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0002066HP:0002066Gait ataxia0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0002066HP:0002066Gait ataxia0IFRD1 CL E G H347598771ORPHA1505456603502
HP:0002066HP:0002066Gait ataxia0IFRD1 CL E G H347598771ORPHA1515456603502
HP:0002066HP:0002066Gait ataxia0ITPR1 CL E G H370898769ORPHA19696180147265
HP:0002066HP:0002066Gait ataxia0ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0002066HP:0002066Gait ataxia0ITPR1 CL E G H370898769ORPHA18956180147265
HP:0002066HP:0002066Gait ataxia0ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0002066HP:0002066Gait ataxia0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM19696180147265
HP:0002066HP:0002066Gait ataxia0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM18956180147265
HP:0002066HP:0002066Gait ataxia0KCNC3 CL E G H374898768ORPHA11266235176264
HP:0002066HP:0002066Gait ataxia0KCNC3 CL E G H374898768ORPHA11666235176264
HP:0002066HP:0002066Gait ataxia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11666235176264
HP:0002066HP:0002066Gait ataxia0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11266235176264
HP:0002066HP:0002066Gait ataxia0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12666239605411
HP:0002066HP:0002066Gait ataxia0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12336239605411
HP:0002066HP:0002066Gait ataxia0KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002066HP:0002066Gait ataxia0KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002066HP:0002066Gait ataxia0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0002066HP:0002066Gait ataxia0KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0002066HP:0002066Gait ataxia0LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM13886638150341
HP:0002066HP:0002066Gait ataxia0LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM13146638150341
HP:0002066HP:0002066Gait ataxia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0002066HP:0002066Gait ataxia0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0002066HP:0002066Gait ataxia0MARS2 CL E G H92935314603ORPHA110925133609728
HP:0002066HP:0002066Gait ataxia0MARS2 CL E G H92935314603ORPHA19525133609728
HP:0002066HP:0002066Gait ataxia0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM110925133609728
HP:0002066HP:0002066Gait ataxia0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM19525133609728
HP:0002066HP:0002066Gait ataxia0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116846990300005
HP:0002066HP:0002066Gait ataxia0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116036990300005
HP:0002066HP:0002066Gait ataxia0MME CL E G H4311497764ORPHA13427154120520
HP:0002066HP:0002066Gait ataxia0MME CL E G H4311497764ORPHA11967154120520
HP:0002066HP:0002066Gait ataxia0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0002066HP:0002066Gait ataxia0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0002066HP:0002066Gait ataxia0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15227225159440
HP:0002066HP:0002066Gait ataxia0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM14937225159440
HP:0002066HP:0002066Gait ataxia0MRE11 CL E G H4361251347ORPHA112587230600814
HP:0002066HP:0002066Gait ataxia0MRE11 CL E G H4361251347ORPHA112597230600814
HP:0002066HP:0002066Gait ataxia0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0002066HP:0002066Gait ataxia0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0002066HP:0002066Gait ataxia0MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002066HP:0002066Gait ataxia0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM14415911614154
HP:0002066HP:0002066Gait ataxia0NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM14315911614154
HP:0002066HP:0002066Gait ataxia0NUP62 CL E G H23636225154ORPHA1778066605815
HP:0002066HP:0002066Gait ataxia0NUP62 CL E G H23636225154ORPHA1438066605815
HP:0002066HP:0002066Gait ataxia0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13588148300127
HP:0002066HP:0002066Gait ataxia0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13448148300127
HP:0002066HP:0002066Gait ataxia0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11079279605993
HP:0002066HP:0002066Gait ataxia0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM1879279605993
HP:0002066HP:0002066Gait ataxia0PDYN CL E G H5173101108ORPHA11448820131340
HP:0002066HP:0002066Gait ataxia0PDYN CL E G H5173101108ORPHA11598820131340
HP:0002066HP:0002066Gait ataxia0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11598820131340
HP:0002066HP:0002066Gait ataxia0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11448820131340
HP:0002066HP:0002066Gait ataxia0PEX6 CL E G H519095433ORPHA18558859601498
HP:0002066HP:0002066Gait ataxia0PEX6 CL E G H519095433ORPHA16458859601498
HP:0002066HP:0002066Gait ataxia0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0002066HP:0002066Gait ataxia0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0002066HP:0002066Gait ataxia0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12017158615698
HP:0002066HP:0002066Gait ataxia0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM11917158615698
HP:0002066HP:0002066Gait ataxia0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM13909118601097
HP:0002066HP:0002066Gait ataxia0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14199118601097
HP:0002066HP:0002066Gait ataxia0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM112818667613036
HP:0002066HP:0002066Gait ataxia0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM113418667613036
HP:0002066HP:0002066Gait ataxia0PODXL CL E G H5420391411ORPHA11049171602632
HP:0002066HP:0002066Gait ataxia0PODXL CL E G H5420391411ORPHA1889171602632
HP:0002066HP:0002066Gait ataxia0POLG CL E G H542870595ORPHA117129179174763
HP:0002066HP:0002066Gait ataxia0POLG CL E G H542870595ORPHA114709179174763
HP:0002066HP:0002066Gait ataxia0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM114709179174763
HP:0002066HP:0002066Gait ataxia0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM117129179174763
HP:0002066HP:0002066Gait ataxia0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM117129179174763
HP:0002066HP:0002066Gait ataxia0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM114709179174763
HP:0002066HP:0002066Gait ataxia0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13714951613257
HP:0002066HP:0002066Gait ataxia0PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13514951613257
HP:0002066HP:0002066Gait ataxia0PRKCG CL E G H558298763ORPHA12619402176980
HP:0002066HP:0002066Gait ataxia0PRKCG CL E G H558298763ORPHA12719402176980
HP:0002066HP:0002066Gait ataxia0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12719402176980
HP:0002066HP:0002066Gait ataxia0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12619402176980
HP:0002066HP:0002066Gait ataxia0PRNP CL E G H5621157941ORPHA11319449176640
HP:0002066HP:0002066Gait ataxia0PRNP CL E G H5621282166ORPHA11469449176640
HP:0002066HP:0002066Gait ataxia0PRNP CL E G H5621282166ORPHA11319449176640
HP:0002066HP:0002066Gait ataxia0PRNP CL E G H5621157941ORPHA11469449176640
HP:0002066HP:0002066Gait ataxia0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11319449176640
HP:0002066HP:0002066Gait ataxia0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11469449176640
HP:0002066HP:0002066Gait ataxia0PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11319449176640
HP:0002066HP:0002066Gait ataxia0PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11469449176640
HP:0002066HP:0002066Gait ataxia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM15029498176801
HP:0002066HP:0002066Gait ataxia0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM13909498176801
HP:0002066HP:0002066Gait ataxia0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1339761604198
HP:0002066HP:0002066Gait ataxia0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1569761604198
HP:0002066HP:0002066Gait ataxia0RNU12 CL E G H267010512260ORPHA112193800
HP:0002066HP:0002066Gait ataxia0RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM127217296604712
HP:0002066HP:0002066Gait ataxia0RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM126117296604712
HP:0002066HP:0002066Gait ataxia0RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002066HP:0002066Gait ataxia0RUBCN CL E G H9711404499ORPHA111428991613516
HP:0002066HP:0002066Gait ataxia0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM13761665602257
HP:0002066HP:0002066Gait ataxia0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM13281665602257
HP:0002066HP:0002066Gait ataxia0SCYL1 CL E G H57410466794ORPHA16914372607982
HP:0002066HP:0002066Gait ataxia0SCYL1 CL E G H57410466794ORPHA16814372607982
HP:0002066HP:0002066Gait ataxia0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM16914372607982
HP:0002066HP:0002066Gait ataxia0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM16814372607982
HP:0002066HP:0002066Gait ataxia0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM121724624608005
HP:0002066HP:0002066Gait ataxia0SIL1 CL E G H64374248800Marinesco-Sjögren syndrome248800C0024814OMIM120624624608005
HP:0002066HP:0002066Gait ataxia0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM18010935193001
HP:0002066HP:0002066Gait ataxia0SLC18A2 CL E G H6571618049PARKINSONISM-DYSTONIA, INFANTILE, 2618049CN248785OMIM110310935193001
HP:0002066HP:0002066Gait ataxia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM146116266606152
HP:0002066HP:0002066Gait ataxia0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM140016266606152
HP:0002066HP:0002066Gait ataxia0SLC52A2 CL E G H7958195433ORPHA139130224607882
HP:0002066HP:0002066Gait ataxia0SLC52A2 CL E G H7958195433ORPHA132830224607882
HP:0002066HP:0002066Gait ataxia0SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16111071107310
HP:0002066HP:0002066Gait ataxia0SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM15611071107310
HP:0002066HP:0002066Gait ataxia0SLC9A6 CL E G H1047985278ORPHA148711079300231
HP:0002066HP:0002066Gait ataxia0SLC9A6 CL E G H1047985278ORPHA144711079300231
HP:0002066HP:0002066Gait ataxia0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM172611237602783
HP:0002066HP:0002066Gait ataxia0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM164811237602783
HP:0002066HP:0002066Gait ataxia0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM156911276604985
HP:0002066HP:0002066Gait ataxia0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM147811276604985
HP:0002066HP:0002066Gait ataxia0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM156911276604985
HP:0002066HP:0002066Gait ataxia0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM147811276604985
HP:0002066HP:0002066Gait ataxia0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM147311280601530
HP:0002066HP:0002066Gait ataxia0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM138311280601530
HP:0002066HP:0002066Gait ataxia0STUB1 CL E G H10273618093SPINOCEREBELLAR ATAXIA 48618093OMIM113811427607207
HP:0002066HP:0002066Gait ataxia0STUB1 CL E G H10273618093SPINOCEREBELLAR ATAXIA 48618093OMIM114411427607207
HP:0002066HP:0002066Gait ataxia0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1417017089608441
HP:0002066HP:0002066Gait ataxia0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1364117089608441
HP:0002066HP:0002066Gait ataxia0SYNJ1 CL E G H8867391411ORPHA190911503604297
HP:0002066HP:0002066Gait ataxia0SYNJ1 CL E G H8867391411ORPHA173011503604297
HP:0002066HP:0002066Gait ataxia0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM155025439616830
HP:0002066HP:0002066Gait ataxia0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM148025439616830
HP:0002066HP:0002066Gait ataxia0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110611588600075
HP:0002066HP:0002066Gait ataxia0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110211588600075
HP:0002066HP:0002066Gait ataxia0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA181211634602272
HP:0002066HP:0002066Gait ataxia0TCF4 CL E G H69252896Hypogonadism retinitis pigmentosaORPHA175611634602272
HP:0002066HP:0002066Gait ataxia0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM181211634602272
HP:0002066HP:0002066Gait ataxia0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM175611634602272
HP:0002066HP:0002066Gait ataxia0TECPR2 CL E G H9895320385ORPHA174619957615000
HP:0002066HP:0002066Gait ataxia0TECPR2 CL E G H9895320385ORPHA168019957615000
HP:0002066HP:0002066Gait ataxia0TECPR2 CL E G H9895615031Spastic paraplegia 49, autosomal recessive615031C3542549OMIM174619957615000
HP:0002066HP:0002066Gait ataxia0TECPR2 CL E G H9895615031Spastic paraplegia 49, autosomal recessive615031C3542549OMIM168019957615000
HP:0002066HP:0002066Gait ataxia0TGM6 CL E G H343641276193ORPHA127516255613900
HP:0002066HP:0002066Gait ataxia0TGM6 CL E G H343641276193ORPHA127016255613900
HP:0002066HP:0002066Gait ataxia0TH CL E G H7054101150ORPHA155011782191290
HP:0002066HP:0002066Gait ataxia0TH CL E G H7054101150ORPHA165511782191290
HP:0002066HP:0002066Gait ataxia0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM165511782191290
HP:0002066HP:0002066Gait ataxia0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM155011782191290
HP:0002066HP:0002066Gait ataxia0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM16222407613413
HP:0002066HP:0002066Gait ataxia0TMEM106B CL E G H54664617964LEUKODYSTROPHY, HYPOMYELINATING, 16617964CN244907OMIM17422407613413
HP:0002066HP:0002066Gait ataxia0TMEM240 CL E G H33945398773ORPHA118625186616101
HP:0002066HP:0002066Gait ataxia0TMEM240 CL E G H33945398773ORPHA117625186616101
HP:0002066HP:0002066Gait ataxia0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM118625186616101
HP:0002066HP:0002066Gait ataxia0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM117625186616101
HP:0002066HP:0002066Gait ataxia0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM17452073607998
HP:0002066HP:0002066Gait ataxia0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM16452073607998
HP:0002066HP:0002066Gait ataxia0TRPC3 CL E G H7222458798ORPHA13912335602345
HP:0002066HP:0002066Gait ataxia0TRPC3 CL E G H7222458798ORPHA13612335602345
HP:0002066HP:0002066Gait ataxia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM118120774602662
HP:0002066HP:0002066Gait ataxia0TUBB4A CL E G H10382128101Autosomal dominant torsion dystonia 4128101C1851943OMIM116820774602662
HP:0002066HP:0002066Gait ataxia0TWNK CL E G H5665270595ORPHA12701160606075
HP:0002066HP:0002066Gait ataxia0TWNK CL E G H5665270595ORPHA12341160606075
HP:0002066HP:0002066Gait ataxia0UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM110923230610552
HP:0002066HP:0002066Gait ataxia0UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM15823230610552
HP:0002066HP:0002066Gait ataxia0UROC1 CL E G H131669210128ORPHA17326444613012
HP:0002066HP:0002066Gait ataxia0UROC1 CL E G H131669210128ORPHA17426444613012
HP:0002066HP:0002066Gait ataxia0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM146112698192977
HP:0002066HP:0002066Gait ataxia0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM147712698192977
HP:0002066HP:0002066Gait ataxia0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM126623595608877
HP:0002066HP:0002066Gait ataxia0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM119123595608877
HP:0002066HP:0002066Gait ataxia0WWOX CL E G H51741284282ORPHA187912799605131
HP:0002066HP:0002066Gait ataxia0WWOX CL E G H51741284282ORPHA176712799605131
HP:0002066HP:0002066Gait ataxia0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM187912799605131
HP:0002066HP:0002066Gait ataxia0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM176712799605131
HP:0002066HP:0007240Progressive gait ataxia1ADAR CL E G H103225154ORPHA1654225146920
HP:0002066HP:0007240Progressive gait ataxia1ADAR CL E G H103225154ORPHA1471225146920
HP:0002066HP:0012651Abasia1ADAR CL E G H103225154ORPHA1654225146920
HP:0002066HP:0012651Abasia1ADAR CL E G H103225154ORPHA1471225146920
HP:0002066HP:0012651Abasia1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0002066HP:0012651Abasia1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0002066HP:0007240Progressive gait ataxia1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0002066HP:0007240Progressive gait ataxia1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0002066HP:0007240Progressive gait ataxia1AFG3L2 CL E G H10939101109ORPHA1349315604581
HP:0002066HP:0012651Abasia1AFG3L2 CL E G H10939101109ORPHA1357315604581
HP:0002066HP:0012651Abasia1AFG3L2 CL E G H10939101109ORPHA1349315604581
HP:0002066HP:0007240Progressive gait ataxia1AFG3L2 CL E G H10939101109ORPHA1357315604581
HP:0002066HP:0012651Abasia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0002066HP:0012651Abasia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0002066HP:0007240Progressive gait ataxia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0002066HP:0007240Progressive gait ataxia1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0002066HP:0007240Progressive gait ataxia1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0002066HP:0007240Progressive gait ataxia1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0002066HP:0012651Abasia1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0002066HP:0012651Abasia1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0002066HP:0007240Progressive gait ataxia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0002066HP:0007240Progressive gait ataxia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0002066HP:0012651Abasia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1219560300629
HP:0002066HP:0012651Abasia1AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM1216560300629
HP:0002066HP:0007240Progressive gait ataxia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM123615984606350
HP:0002066HP:0012651Abasia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM125815984606350
HP:0002066HP:0012651Abasia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM123615984606350
HP:0002066HP:0007240Progressive gait ataxia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM125815984606350
HP:0002066HP:0007240Progressive gait ataxia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0002066HP:0007240Progressive gait ataxia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0002066HP:0012651Abasia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM195649600820
HP:0002066HP:0012651Abasia1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM169649600820
HP:0002066HP:0012651Abasia1ATCAY CL E G H8530094122ORPHA1179779608179
HP:0002066HP:0012651Abasia1ATCAY CL E G H8530094122ORPHA1175779608179
HP:0002066HP:0007240Progressive gait ataxia1ATCAY CL E G H8530094122ORPHA1179779608179
HP:0002066HP:0007240Progressive gait ataxia1ATCAY CL E G H8530094122ORPHA1175779608179
HP:0002066HP:0012651Abasia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1179779608179
HP:0002066HP:0012651Abasia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1175779608179
HP:0002066HP:0007240Progressive gait ataxia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1179779608179
HP:0002066HP:0007240Progressive gait ataxia1ATCAY CL E G H85300601238Cerebellar ataxia, Cayman type601238C1832585OMIM1175779608179
HP:0002066HP:0007240Progressive gait ataxia1ATN1 CL E G H1822101ORPHA11033033607462
HP:0002066HP:0007240Progressive gait ataxia1ATN1 CL E G H1822101ORPHA1963033607462
HP:0002066HP:0012651Abasia1ATN1 CL E G H1822101ORPHA11033033607462
HP:0002066HP:0012651Abasia1ATN1 CL E G H1822101ORPHA1963033607462
HP:0002066HP:0007240Progressive gait ataxia1ATP1A3 CL E G H47871517ORPHA1687801182350
HP:0002066HP:0007240Progressive gait ataxia1ATP1A3 CL E G H47871517ORPHA1625801182350
HP:0002066HP:0012651Abasia1ATP1A3 CL E G H47871517ORPHA1687801182350
HP:0002066HP:0012651Abasia1ATP1A3 CL E G H47871517ORPHA1625801182350
HP:0002066HP:0007240Progressive gait ataxia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1687801182350
HP:0002066HP:0007240Progressive gait ataxia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1625801182350
HP:0002066HP:0012651Abasia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1687801182350
HP:0002066HP:0012651Abasia1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1625801182350
HP:0002066HP:0007240Progressive gait ataxia1ATXN10 CL E G H2581498761ORPHA19910549611150
HP:0002066HP:0012651Abasia1ATXN10 CL E G H2581498761ORPHA110110549611150
HP:0002066HP:0012651Abasia1ATXN10 CL E G H2581498761ORPHA19910549611150
HP:0002066HP:0007240Progressive gait ataxia1ATXN10 CL E G H2581498761ORPHA110110549611150
HP:0002066HP:0012651Abasia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0002066HP:0012651Abasia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0002066HP:0007240Progressive gait ataxia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0002066HP:0007240Progressive gait ataxia1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0002066HP:0007240Progressive gait ataxia1ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002066HP:0007240Progressive gait ataxia1ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002066HP:0012651Abasia1ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002066HP:0012651Abasia1ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002066HP:0007240Progressive gait ataxia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0002066HP:0012651Abasia1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0002066HP:0012651Abasia1ATXN8OS CL E G H631598760ORPHA17210561603680
HP:0002066HP:0007240Progressive gait ataxia1ATXN8OS CL E G H631598760ORPHA17610561603680
HP:0002066HP:0007240Progressive gait ataxia1ATXN8OS CL E G H631598760ORPHA17210561603680
HP:0002066HP:0012651Abasia1ATXN8OS CL E G H631598760ORPHA17610561603680
HP:0002066HP:0007240Progressive gait ataxia1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0002066HP:0012651Abasia1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0002066HP:0007240Progressive gait ataxia1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0002066HP:0012651Abasia1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0002066HP:0007240Progressive gait ataxia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM172521701614506
HP:0002066HP:0012651Abasia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM184721701614506
HP:0002066HP:0012651Abasia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM172521701614506
HP:0002066HP:0007240Progressive gait ataxia1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM184721701614506
HP:0002066HP:0012651Abasia1CACNA1A CL E G H77398758ORPHA123261388601011
HP:0002066HP:0012651Abasia1CACNA1A CL E G H77398758ORPHA120471388601011
HP:0002066HP:0007240Progressive gait ataxia1CACNA1A CL E G H77398758ORPHA123261388601011
HP:0002066HP:0007240Progressive gait ataxia1CACNA1A CL E G H77398758ORPHA120471388601011
HP:0002066HP:0012651Abasia1CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0002066HP:0007240Progressive gait ataxia1CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0002066HP:0007240Progressive gait ataxia1CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0002066HP:0012651Abasia1CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0002066HP:0012651Abasia1CAPN1 CL E G H823488594ORPHA1841476114220
HP:0002066HP:0007240Progressive gait ataxia1CAPN1 CL E G H823488594ORPHA11001476114220
HP:0002066HP:0007240Progressive gait ataxia1CAPN1 CL E G H823488594ORPHA1841476114220
HP:0002066HP:0012651Abasia1CAPN1 CL E G H823488594ORPHA11001476114220
HP:0002066HP:0007240Progressive gait ataxia1CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1851527601047
HP:0002066HP:0007240Progressive gait ataxia1CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1811527601047
HP:0002066HP:0012651Abasia1CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1851527601047
HP:0002066HP:0012651Abasia1CAV1 CL E G H857606721Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome606721C1847582OMIM1811527601047
HP:0002066HP:0007240Progressive gait ataxia1CCDC88C CL E G H440193423275ORPHA126519967611204
HP:0002066HP:0007240Progressive gait ataxia1CCDC88C CL E G H440193423275ORPHA125819967611204
HP:0002066HP:0012651Abasia1CCDC88C CL E G H440193423275ORPHA126519967611204
HP:0002066HP:0012651Abasia1CCDC88C CL E G H440193423275ORPHA125819967611204
HP:0002066HP:0012651Abasia1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0002066HP:0012651Abasia1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0002066HP:0007240Progressive gait ataxia1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM120220311616327
HP:0002066HP:0007240Progressive gait ataxia1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM119120311616327
HP:0002066HP:0012651Abasia1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM11942020600570
HP:0002066HP:0012651Abasia1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM11632020600570
HP:0002066HP:0007240Progressive gait ataxia1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM11942020600570
HP:0002066HP:0007240Progressive gait ataxia1CLCN2 CL E G H1181615651Leukoencephalopathy with ataxia615651C3810242OMIM11632020600570
HP:0002066HP:0012651Abasia1COQ2 CL E G H27235227510ORPHA113725223609825
HP:0002066HP:0007240Progressive gait ataxia1COQ2 CL E G H27235227510ORPHA117125223609825
HP:0002066HP:0007240Progressive gait ataxia1COQ2 CL E G H27235227510ORPHA113725223609825
HP:0002066HP:0012651Abasia1COQ2 CL E G H27235227510ORPHA117125223609825
HP:0002066HP:0007240Progressive gait ataxia1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0002066HP:0012651Abasia1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0002066HP:0012651Abasia1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0002066HP:0007240Progressive gait ataxia1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0002066HP:0007240Progressive gait ataxia1CWF19L1 CL E G H55280453521ORPHA15925613616120
HP:0002066HP:0012651Abasia1CWF19L1 CL E G H55280453521ORPHA15925613616120
HP:0002066HP:0012651Abasia1DKK1 CL E G H22943268882ORPHA1242891605189
HP:0002066HP:0007240Progressive gait ataxia1DKK1 CL E G H22943268882ORPHA1242891605189
HP:0002066HP:0007240Progressive gait ataxia1DNAJC3 CL E G H5611445062ORPHA1909439601184
HP:0002066HP:0007240Progressive gait ataxia1DNAJC3 CL E G H5611445062ORPHA1869439601184
HP:0002066HP:0012651Abasia1DNAJC3 CL E G H5611445062ORPHA1909439601184
HP:0002066HP:0012651Abasia1DNAJC3 CL E G H5611445062ORPHA1869439601184
HP:0002066HP:0012651Abasia1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1909439601184
HP:0002066HP:0012651Abasia1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1869439601184
HP:0002066HP:0007240Progressive gait ataxia1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1909439601184
HP:0002066HP:0007240Progressive gait ataxia1DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1869439601184
HP:0002066HP:0012651Abasia1DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0002066HP:0012651Abasia1DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0002066HP:0007240Progressive gait ataxia1DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0002066HP:0007240Progressive gait ataxia1DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0002066HP:0007240Progressive gait ataxia1DOCK3 CL E G H1795618292618292618292OMIM1432989603123
HP:0002066HP:0012651Abasia1DOCK3 CL E G H1795618292618292618292OMIM1462989603123
HP:0002066HP:0012651Abasia1DOCK3 CL E G H1795618292618292618292OMIM1432989603123
HP:0002066HP:0007240Progressive gait ataxia1DOCK3 CL E G H1795618292618292618292OMIM1462989603123
HP:0002066HP:0012651Abasia1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11743214130610
HP:0002066HP:0012651Abasia1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11703214130610
HP:0002066HP:0007240Progressive gait ataxia1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11743214130610
HP:0002066HP:0007240Progressive gait ataxia1EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11703214130610
HP:0002066HP:0007240Progressive gait ataxia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002066HP:0007240Progressive gait ataxia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002066HP:0012651Abasia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002066HP:0012651Abasia1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002066HP:0007240Progressive gait ataxia1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM117814415605512
HP:0002066HP:0012651Abasia1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM121314415605512
HP:0002066HP:0012651Abasia1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM117814415605512
HP:0002066HP:0007240Progressive gait ataxia1ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM121314415605512
HP:0002066HP:0012651Abasia1ELOVL5 CL E G H60481423296ORPHA15221308611805
HP:0002066HP:0012651Abasia1ELOVL5 CL E G H60481423296ORPHA14921308611805
HP:0002066HP:0007240Progressive gait ataxia1ELOVL5 CL E G H60481423296ORPHA15221308611805
HP:0002066HP:0007240Progressive gait ataxia1ELOVL5 CL E G H60481423296ORPHA14921308611805
HP:0002066HP:0007240Progressive gait ataxia1ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM15221308611805
HP:0002066HP:0007240Progressive gait ataxia1ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM14921308611805
HP:0002066HP:0012651Abasia1ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM15221308611805
HP:0002066HP:0012651Abasia1ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM14921308611805
HP:0002066HP:0012651Abasia1ERMARD CL E G H5578075857ORPHA122021056615532
HP:0002066HP:0012651Abasia1ERMARD CL E G H5578075857ORPHA119121056615532
HP:0002066HP:0007240Progressive gait ataxia1ERMARD CL E G H5578075857ORPHA122021056615532
HP:0002066HP:0007240Progressive gait ataxia1ERMARD CL E G H5578075857ORPHA119121056615532
HP:0002066HP:0012651Abasia1FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11693596604269
HP:0002066HP:0007240Progressive gait ataxia1FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11743596604269
HP:0002066HP:0007240Progressive gait ataxia1FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11693596604269
HP:0002066HP:0012651Abasia1FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11743596604269
HP:0002066HP:0007240Progressive gait ataxia1FGF14 CL E G H225998764ORPHA11873671601515
HP:0002066HP:0012651Abasia1FGF14 CL E G H225998764ORPHA11903671601515
HP:0002066HP:0012651Abasia1FGF14 CL E G H225998764ORPHA11873671601515
HP:0002066HP:0007240Progressive gait ataxia1FGF14 CL E G H225998764ORPHA11903671601515
HP:0002066HP:0012651Abasia1FLVCR1 CL E G H2898288628ORPHA139124682609144
HP:0002066HP:0012651Abasia1FLVCR1 CL E G H2898288628ORPHA132624682609144
HP:0002066HP:0007240Progressive gait ataxia1FLVCR1 CL E G H2898288628ORPHA139124682609144
HP:0002066HP:0007240Progressive gait ataxia1FLVCR1 CL E G H2898288628ORPHA132624682609144
HP:0002066HP:0007240Progressive gait ataxia1FMR1 CL E G H233293256ORPHA13223775309550
HP:0002066HP:0007240Progressive gait ataxia1FMR1 CL E G H233293256ORPHA13173775309550
HP:0002066HP:0012651Abasia1FMR1 CL E G H233293256ORPHA13223775309550
HP:0002066HP:0012651Abasia1FMR1 CL E G H233293256ORPHA13173775309550
HP:0002066HP:0012651Abasia1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13223775309550
HP:0002066HP:0012651Abasia1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13173775309550
HP:0002066HP:0007240Progressive gait ataxia1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13223775309550
HP:0002066HP:0007240Progressive gait ataxia1FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13173775309550
HP:0002066HP:0012651Abasia1FXN CL E G H239595ORPHA11313951606829
HP:0002066HP:0007240Progressive gait ataxia1FXN CL E G H239595ORPHA11313951606829
HP:0002066HP:0007240Progressive gait ataxia1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11313951606829
HP:0002066HP:0012651Abasia1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11313951606829
HP:0002066HP:0012651Abasia1GBA2 CL E G H57704352641ORPHA126218986609471
HP:0002066HP:0012651Abasia1GBA2 CL E G H57704352641ORPHA124618986609471
HP:0002066HP:0007240Progressive gait ataxia1GBA2 CL E G H57704352641ORPHA126218986609471
HP:0002066HP:0007240Progressive gait ataxia1GBA2 CL E G H57704352641ORPHA124618986609471
HP:0002066HP:0012651Abasia1GCH1 CL E G H264398808ORPHA12574193600225
HP:0002066HP:0007240Progressive gait ataxia1GCH1 CL E G H264398808ORPHA13154193600225
HP:0002066HP:0007240Progressive gait ataxia1GCH1 CL E G H264398808ORPHA12574193600225
HP:0002066HP:0012651Abasia1GCH1 CL E G H264398808ORPHA13154193600225
HP:0002066HP:0012651Abasia1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM12574193600225
HP:0002066HP:0007240Progressive gait ataxia1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM13154193600225
HP:0002066HP:0007240Progressive gait ataxia1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM12574193600225
HP:0002066HP:0012651Abasia1GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM13154193600225
HP:0002066HP:0007240Progressive gait ataxia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0002066HP:0012651Abasia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0002066HP:0012651Abasia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0002066HP:0007240Progressive gait ataxia1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0002066HP:0007240Progressive gait ataxia1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11514576602368
HP:0002066HP:0007240Progressive gait ataxia1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11444576602368
HP:0002066HP:0012651Abasia1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11514576602368
HP:0002066HP:0012651Abasia1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11444576602368
HP:0002066HP:0007240Progressive gait ataxia1GRM1 CL E G H2911324262ORPHA11934593604473
HP:0002066HP:0007240Progressive gait ataxia1GRM1 CL E G H2911324262ORPHA11864593604473
HP:0002066HP:0012651Abasia1GRM1 CL E G H2911324262ORPHA11934593604473
HP:0002066HP:0012651Abasia1GRM1 CL E G H2911324262ORPHA11864593604473
HP:0002066HP:0012651Abasia1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11934593604473
HP:0002066HP:0012651Abasia1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11864593604473
HP:0002066HP:0007240Progressive gait ataxia1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11934593604473
HP:0002066HP:0007240Progressive gait ataxia1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11864593604473
HP:0002066HP:0007240Progressive gait ataxia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0002066HP:0012651Abasia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0002066HP:0012651Abasia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0002066HP:0007240Progressive gait ataxia1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0002066HP:0007240Progressive gait ataxia1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15454867605109
HP:0002066HP:0007240Progressive gait ataxia1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15064867605109
HP:0002066HP:0012651Abasia1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15454867605109
HP:0002066HP:0012651Abasia1HERC1 CL E G H8925617011Macrocephaly, dysmorphic facies, and psychomotor retardation617011C4310766OMIM15064867605109
HP:0002066HP:0007240Progressive gait ataxia1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM16395213601860
HP:0002066HP:0007240Progressive gait ataxia1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM15605213601860
HP:0002066HP:0012651Abasia1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM16395213601860
HP:0002066HP:0012651Abasia1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM15605213601860
HP:0002066HP:0007240Progressive gait ataxia1HTT CL E G H3064248111ORPHA11454851613004
HP:0002066HP:0012651Abasia1HTT CL E G H3064248111ORPHA13934851613004
HP:0002066HP:0012651Abasia1HTT CL E G H3064248111ORPHA11454851613004
HP:0002066HP:0007240Progressive gait ataxia1HTT CL E G H3064248111ORPHA13934851613004
HP:0002066HP:0007240Progressive gait ataxia1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0002066HP:0012651Abasia1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0002066HP:0012651Abasia1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0002066HP:0007240Progressive gait ataxia1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0002066HP:0012651Abasia1IFRD1 CL E G H347598771ORPHA1505456603502
HP:0002066HP:0007240Progressive gait ataxia1IFRD1 CL E G H347598771ORPHA1515456603502
HP:0002066HP:0007240Progressive gait ataxia1IFRD1 CL E G H347598771ORPHA1505456603502
HP:0002066HP:0012651Abasia1IFRD1 CL E G H347598771ORPHA1515456603502
HP:0002066HP:0007240Progressive gait ataxia1ITPR1 CL E G H370898769ORPHA18956180147265
HP:0002066HP:0007240Progressive gait ataxia1ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0002066HP:0012651Abasia1ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0002066HP:0012651Abasia1ITPR1 CL E G H370898769ORPHA19696180147265
HP:0002066HP:0012651Abasia1ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0002066HP:0012651Abasia1ITPR1 CL E G H370898769ORPHA18956180147265
HP:0002066HP:0007240Progressive gait ataxia1ITPR1 CL E G H370898769ORPHA19696180147265
HP:0002066HP:0007240Progressive gait ataxia1ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0002066HP:0012651Abasia1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM19696180147265
HP:0002066HP:0012651Abasia1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM18956180147265
HP:0002066HP:0007240Progressive gait ataxia1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM19696180147265
HP:0002066HP:0007240Progressive gait ataxia1ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM18956180147265
HP:0002066HP:0012651Abasia1KCNC3 CL E G H374898768ORPHA11266235176264
HP:0002066HP:0007240Progressive gait ataxia1KCNC3 CL E G H374898768ORPHA11666235176264
HP:0002066HP:0007240Progressive gait ataxia1KCNC3 CL E G H374898768ORPHA11266235176264
HP:0002066HP:0012651Abasia1KCNC3 CL E G H374898768ORPHA11666235176264
HP:0002066HP:0012651Abasia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11666235176264
HP:0002066HP:0012651Abasia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11266235176264
HP:0002066HP:0007240Progressive gait ataxia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11666235176264
HP:0002066HP:0007240Progressive gait ataxia1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11266235176264
HP:0002066HP:0007240Progressive gait ataxia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12666239605411
HP:0002066HP:0007240Progressive gait ataxia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12336239605411
HP:0002066HP:0012651Abasia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12666239605411
HP:0002066HP:0012651Abasia1KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12336239605411
HP:0002066HP:0007240Progressive gait ataxia1KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002066HP:0007240Progressive gait ataxia1KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002066HP:0012651Abasia1KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002066HP:0012651Abasia1KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002066HP:0007240Progressive gait ataxia1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0002066HP:0007240Progressive gait ataxia1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0002066HP:0012651Abasia1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM13356317603060
HP:0002066HP:0012651Abasia1KIF1C CL E G H10749611302Ataxia, spastic, 2, autosomal recessive611302C1969796OMIM12866317603060
HP:0002066HP:0007240Progressive gait ataxia1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM13886638150341
HP:0002066HP:0007240Progressive gait ataxia1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM13146638150341
HP:0002066HP:0012651Abasia1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM13886638150341
HP:0002066HP:0012651Abasia1LMNB2 CL E G H84823616540Epilepsy, progressive myoclonic, 9616540C4225289OMIM13146638150341
HP:0002066HP:0012651Abasia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0002066HP:0012651Abasia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0002066HP:0007240Progressive gait ataxia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0002066HP:0007240Progressive gait ataxia1MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0002066HP:0007240Progressive gait ataxia1MARS2 CL E G H92935314603ORPHA110925133609728
HP:0002066HP:0007240Progressive gait ataxia1MARS2 CL E G H92935314603ORPHA19525133609728
HP:0002066HP:0012651Abasia1MARS2 CL E G H92935314603ORPHA110925133609728
HP:0002066HP:0012651Abasia1MARS2 CL E G H92935314603ORPHA19525133609728
HP:0002066HP:0012651Abasia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM110925133609728
HP:0002066HP:0012651Abasia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM19525133609728
HP:0002066HP:0007240Progressive gait ataxia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM110925133609728
HP:0002066HP:0007240Progressive gait ataxia1MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM19525133609728
HP:0002066HP:0012651Abasia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116846990300005
HP:0002066HP:0012651Abasia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116036990300005
HP:0002066HP:0007240Progressive gait ataxia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116846990300005
HP:0002066HP:0007240Progressive gait ataxia1MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM116036990300005
HP:0002066HP:0012651Abasia1MME CL E G H4311497764ORPHA13427154120520
HP:0002066HP:0012651Abasia1MME CL E G H4311497764ORPHA11967154120520
HP:0002066HP:0007240Progressive gait ataxia1MME CL E G H4311497764ORPHA13427154120520
HP:0002066HP:0007240Progressive gait ataxia1MME CL E G H4311497764ORPHA11967154120520
HP:0002066HP:0012651Abasia1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0002066HP:0012651Abasia1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0002066HP:0007240Progressive gait ataxia1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0002066HP:0007240Progressive gait ataxia1MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0002066HP:0007240Progressive gait ataxia1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM14937225159440
HP:0002066HP:0012651Abasia1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15227225159440
HP:0002066HP:0012651Abasia1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM14937225159440
HP:0002066HP:0007240Progressive gait ataxia1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM15227225159440
HP:0002066HP:0012651Abasia1MRE11 CL E G H4361251347ORPHA112587230600814
HP:0002066HP:0007240Progressive gait ataxia1MRE11 CL E G H4361251347ORPHA112597230600814
HP:0002066HP:0007240Progressive gait ataxia1MRE11 CL E G H4361251347ORPHA112587230600814
HP:0002066HP:0012651Abasia1MRE11 CL E G H4361251347ORPHA112597230600814
HP:0002066HP:0007240Progressive gait ataxia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0002066HP:0007240Progressive gait ataxia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0002066HP:0012651Abasia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0002066HP:0012651Abasia1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0002066HP:0007240Progressive gait ataxia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002066HP:0012651Abasia1MT-ATP6 CL E G H4508225154ORPHA17414516060
HP:0002066HP:0012651Abasia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM14415911614154
HP:0002066HP:0012651Abasia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM14315911614154
HP:0002066HP:0007240Progressive gait ataxia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM14415911614154
HP:0002066HP:0007240Progressive gait ataxia1NOP56 CL E G H10528614153Spinocerebellar ataxia 36614153C3472711OMIM14315911614154
HP:0002066HP:0007240Progressive gait ataxia1NUP62 CL E G H23636225154ORPHA1438066605815
HP:0002066HP:0012651Abasia1NUP62 CL E G H23636225154ORPHA1778066605815
HP:0002066HP:0012651Abasia1NUP62 CL E G H23636225154ORPHA1438066605815
HP:0002066HP:0007240Progressive gait ataxia1NUP62 CL E G H23636225154ORPHA1778066605815
HP:0002066HP:0007240Progressive gait ataxia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13588148300127
HP:0002066HP:0007240Progressive gait ataxia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13448148300127
HP:0002066HP:0012651Abasia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13588148300127
HP:0002066HP:0012651Abasia1OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM13448148300127
HP:0002066HP:0012651Abasia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11079279605993
HP:0002066HP:0012651Abasia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM1879279605993
HP:0002066HP:0007240Progressive gait ataxia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM11079279605993
HP:0002066HP:0007240Progressive gait ataxia1PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM1879279605993
HP:0002066HP:0012651Abasia1PDYN CL E G H5173101108ORPHA11448820131340
HP:0002066HP:0007240Progressive gait ataxia1PDYN CL E G H5173101108ORPHA11598820131340
HP:0002066HP:0007240Progressive gait ataxia1PDYN CL E G H5173101108ORPHA11448820131340
HP:0002066HP:0012651Abasia1PDYN CL E G H5173101108ORPHA11598820131340
HP:0002066HP:0007240Progressive gait ataxia1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11598820131340
HP:0002066HP:0007240Progressive gait ataxia1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11448820131340
HP:0002066HP:0012651Abasia1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11598820131340
HP:0002066HP:0012651Abasia1PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11448820131340
HP:0002066HP:0007240Progressive gait ataxia1PEX6 CL E G H519095433ORPHA18558859601498
HP:0002066HP:0007240Progressive gait ataxia1PEX6 CL E G H519095433ORPHA16458859601498
HP:0002066HP:0012651Abasia1PEX6 CL E G H519095433ORPHA18558859601498
HP:0002066HP:0012651Abasia1PEX6 CL E G H519095433ORPHA16458859601498
HP:0002066HP:0012651Abasia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0002066HP:0012651Abasia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0002066HP:0007240Progressive gait ataxia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0002066HP:0007240Progressive gait ataxia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0002066HP:0007240Progressive gait ataxia1PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM11917158615698
HP:0002066HP:0012651Abasia1PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12017158615698
HP:0002066HP:0012651Abasia1PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM11917158615698
HP:0002066HP:0007240Progressive gait ataxia1PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12017158615698
HP:0002066HP:0012651Abasia1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM13909118601097
HP:0002066HP:0007240Progressive gait ataxia1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14199118601097
HP:0002066HP:0007240Progressive gait ataxia1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM13909118601097
HP:0002066HP:0012651Abasia1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14199118601097
HP:0002066HP:0012651Abasia1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM112818667613036
HP:0002066HP:0007240Progressive gait ataxia1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM113418667613036
HP:0002066HP:0007240Progressive gait ataxia1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM112818667613036
HP:0002066HP:0012651Abasia1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM113418667613036
HP:0002066HP:0007240Progressive gait ataxia1PODXL CL E G H5420391411ORPHA11049171602632
HP:0002066HP:0007240Progressive gait ataxia1PODXL CL E G H5420391411ORPHA1889171602632
HP:0002066HP:0012651Abasia1PODXL CL E G H5420391411ORPHA11049171602632
HP:0002066HP:0012651Abasia1PODXL CL E G H5420391411ORPHA1889171602632
HP:0002066HP:0007240Progressive gait ataxia1POLG CL E G H542870595ORPHA117129179174763
HP:0002066HP:0007240Progressive gait ataxia1POLG CL E G H542870595ORPHA114709179174763
HP:0002066HP:0012651Abasia1POLG CL E G H542870595ORPHA117129179174763
HP:0002066HP:0012651Abasia1POLG CL E G H542870595ORPHA114709179174763
HP:0002066HP:0012651Abasia1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM114709179174763
HP:0002066HP:0007240Progressive gait ataxia1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM117129179174763
HP:0002066HP:0007240Progressive gait ataxia1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM114709179174763
HP:0002066HP:0012651Abasia1POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM117129179174763
HP:0002066HP:0012651Abasia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM117129179174763
HP:0002066HP:0012651Abasia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM114709179174763
HP:0002066HP:0007240Progressive gait ataxia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM117129179174763
HP:0002066HP:0007240Progressive gait ataxia1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM114709179174763
HP:0002066HP:0012651Abasia1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13714951613257
HP:0002066HP:0012651Abasia1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13514951613257
HP:0002066HP:0007240Progressive gait ataxia1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13714951613257
HP:0002066HP:0007240Progressive gait ataxia1PPP1R15B CL E G H84919616817Microcephaly, short stature, and impaired glucose metabolism 2616817C4225195OMIM13514951613257
HP:0002066HP:0012651Abasia1PRKCG CL E G H558298763ORPHA12619402176980
HP:0002066HP:0007240Progressive gait ataxia1PRKCG CL E G H558298763ORPHA12719402176980
HP:0002066HP:0007240Progressive gait ataxia1PRKCG CL E G H558298763ORPHA12619402176980
HP:0002066HP:0012651Abasia1PRKCG CL E G H558298763ORPHA12719402176980
HP:0002066HP:0007240Progressive gait ataxia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12719402176980
HP:0002066HP:0007240Progressive gait ataxia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12619402176980
HP:0002066HP:0012651Abasia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12719402176980
HP:0002066HP:0012651Abasia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12619402176980
HP:0002066HP:0012651Abasia1PRNP CL E G H5621157941ORPHA11319449176640
HP:0002066HP:0007240Progressive gait ataxia1PRNP CL E G H5621282166ORPHA11469449176640
HP:0002066HP:0007240Progressive gait ataxia1PRNP CL E G H5621157941ORPHA11469449176640
HP:0002066HP:0007240Progressive gait ataxia1PRNP CL E G H5621282166ORPHA11319449176640
HP:0002066HP:0012651Abasia1PRNP CL E G H5621282166ORPHA11469449176640
HP:0002066HP:0007240Progressive gait ataxia1PRNP CL E G H5621157941ORPHA11319449176640
HP:0002066HP:0012651Abasia1PRNP CL E G H5621282166ORPHA11319449176640
HP:0002066HP:0012651Abasia1PRNP CL E G H5621157941ORPHA11469449176640
HP:0002066HP:0012651Abasia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11319449176640
HP:0002066HP:0007240Progressive gait ataxia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11469449176640
HP:0002066HP:0007240Progressive gait ataxia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11319449176640
HP:0002066HP:0012651Abasia1PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11469449176640
HP:0002066HP:0012651Abasia1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11319449176640
HP:0002066HP:0007240Progressive gait ataxia1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11469449176640
HP:0002066HP:0007240Progressive gait ataxia1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11319449176640
HP:0002066HP:0012651Abasia1PRNP CL E G H5621123400Jakob-Creutzfeldt disease123400C0022336OMIM11469449176640
HP:0002066HP:0012651Abasia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM15029498176801
HP:0002066HP:0012651Abasia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM13909498176801
HP:0002066HP:0007240Progressive gait ataxia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM15029498176801
HP:0002066HP:0007240Progressive gait ataxia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM13909498176801
HP:0002066HP:0012651Abasia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1339761604198
HP:0002066HP:0007240Progressive gait ataxia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1569761604198
HP:0002066HP:0007240Progressive gait ataxia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1339761604198
HP:0002066HP:0012651Abasia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM1569761604198
HP:0002066HP:0007240Progressive gait ataxia1RNU12 CL E G H267010512260ORPHA112193800
HP:0002066HP:0012651Abasia1RNU12 CL E G H267010512260ORPHA112193800
HP:0002066HP:0007240Progressive gait ataxia1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM127217296604712
HP:0002066HP:0007240Progressive gait ataxia1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM126117296604712
HP:0002066HP:0012651Abasia1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM127217296604712
HP:0002066HP:0012651Abasia1RRM2B CL E G H50484612075Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy612075C2749861OMIM126117296604712
HP:0002066HP:0012651Abasia1RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002066HP:0012651Abasia1RUBCN CL E G H9711404499ORPHA111428991613516
HP:0002066HP:0007240Progressive gait ataxia1RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002066HP:0007240Progressive gait ataxia1RUBCN CL E G H9711404499ORPHA111428991613516
HP:0002066HP:0007240Progressive gait ataxia1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM13761665602257
HP:0002066HP:0007240Progressive gait ataxia1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM13281665602257
HP:0002066HP:0012651Abasia1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM13761665602257
HP:0002066HP:0012651Abasia1SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM13281665602257
HP:0002066HP:0007240Progressive gait ataxia1SCYL1 CL E G H57410466794ORPHA16814372607982
HP:0002066HP:0012651Abasia1SCYL1 CL E G H57410466794ORPHA16914372607982
HP:0002066HP:0012651Abasia1SCYL1 CL E G H57410466794ORPHA16814372607982
HP:0002066HP:0007240Progressive gait ataxia1SCYL1 CL E G H57410466794ORPHA16914372607982
HP:0002066HP:0007240Progressive gait ataxia1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM16914372607982
HP:0002066HP:0007240Progressive gait ataxia1SCYL1