Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Gait disturbance (HP:0001288)help
..Starting node
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Unsteady gait (HP:0002317)help
Term ID: 2317
Name: Unsteady gait
Synonym: Gait instability; Unsteady walk
Definition:
Comments:
Reference: HP:0002317
Genes and Diseases:
 
       Child Nodes:
........expandGait instability, worse in the dark (HP:0006962) 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 ataxia (HP:0002066) help
..expandGait imbalance (HP:0002141) help
..expandHobby horse gait (HP:0031856) help
..expandImpaired tandem gait (HP:0031629) help
..expandInability to walk (HP:0002540) help
..expandobsolete Toe walking (HP:0040083) help
..expandScissor gait (HP:0012407) help
..expandShuffling gait (HP:0002362) help
..expandSteppage gait (HP:0003376) help
..expandTip-toe gait (HP:0030051) help
..expandWaddling gait (HP:0002515) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002317HP:0002317Unsteady gait0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002317HP:0002317Unsteady gait0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002317HP:0002317Unsteady gait0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040281 - Very frequent
HP:0002317HP:0002317Unsteady gait0AIFM1 CL E G H91318768OMIM:300614Deafness, X-linked 5.60
HP:0002317HP:0002317Unsteady gait0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040282 - Frequent74
HP:0002317HP:0002317Unsteady gait0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare
HP:0002317HP:0002317Unsteady gait0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0002317HP:0002317Unsteady gait0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002317HP:0002317Unsteady gait0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0002317HP:0002317Unsteady gait0ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0002317HP:0002317Unsteady gait0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0002317HP:0002317Unsteady gait0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0002317HP:0002317Unsteady gait0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040282 - Frequent36
HP:0002317HP:0002317Unsteady gait0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002317HP:0002317Unsteady gait0ATP7A CL E G H538869OMIM:300489Spinal muscular atrophy, distal, X-linked 3.192
HP:0002317HP:0002317Unsteady gait0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0002317HP:0002317Unsteady gait0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0002317HP:0002317Unsteady gait0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0002317HP:0002317Unsteady gait0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0002317HP:0002317Unsteady gait0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0002317HP:0002317Unsteady gait0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0002317HP:0002317Unsteady gait0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0002317HP:0002317Unsteady gait0CACNA1A CL E G H7731388ORPHA:98758Spinocerebellar ataxia type 6HP:0040281 - Very frequent449
HP:0002317HP:0002317Unsteady gait0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0002317HP:0002317Unsteady gait0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0002317HP:0002317Unsteady gait0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040281 - Very frequent32
HP:0002317HP:0002317Unsteady gait0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0002317HP:0002317Unsteady gait0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0002317HP:0002317Unsteady gait0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0002317HP:0002317Unsteady gait0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0002317HP:0002317Unsteady gait0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0002317HP:0002317Unsteady gait0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002317HP:0002317Unsteady gait0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002317HP:0002317Unsteady gait0CEP104 CL E G H973124866OMIM:6199885
HP:0002317HP:0002317Unsteady gait0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare227
HP:0002317HP:0002317Unsteady gait0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0002317HP:0002317Unsteady gait0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0002317HP:0002317Unsteady gait0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040284 - Very rare45
HP:0002317HP:0002317Unsteady gait0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0002317HP:0002317Unsteady gait0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0002317HP:0002317Unsteady gait0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002317HP:0002317Unsteady gait0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0002317HP:0002317Unsteady gait0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8.
HP:0002317HP:0002317Unsteady gait0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0002317HP:0002317Unsteady gait0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002317HP:0002317Unsteady gait0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 17.9
HP:0002317HP:0002317Unsteady gait0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002317HP:0002317Unsteady gait0CYP2U1 CL E G H11361220582ORPHA:320411Autosomal recessive spastic paraplegia type 56HP:0040282 - Frequent18
HP:0002317HP:0002317Unsteady gait0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive.18
HP:0002317HP:0002317Unsteady gait0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37.4
HP:0002317HP:0002317Unsteady gait0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040282 - Frequent108
HP:0002317HP:0002317Unsteady gait0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9108
HP:0002317HP:0002317Unsteady gait0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002317HP:0002317Unsteady gait0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0002317HP:0002317Unsteady gait0DCC CL E G H16302701OMIM:617542GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS236
HP:0002317HP:0002317Unsteady gait0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0002317HP:0002317Unsteady gait0DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 28HP:0040282 - Frequent35
HP:0002317HP:0002317Unsteady gait0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040283 - Occasional33
HP:0002317HP:0002317Unsteady gait0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0002317HP:0002317Unsteady gait0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0002317HP:0002317Unsteady gait0DHX16 CL E G H84492739OMIM:618733NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002317HP:0002317Unsteady gait0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0002317HP:0002317Unsteady gait0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0002317HP:0002317Unsteady gait0DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0002317HP:0002317Unsteady gait0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 33.60
HP:0002317HP:0002317Unsteady gait0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0002317HP:0002317Unsteady gait0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0002317HP:0002317Unsteady gait0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0002317HP:0002317Unsteady gait0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0002317HP:0002317Unsteady gait0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0002317HP:0002317Unsteady gait0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0002317HP:0002317Unsteady gait0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0002317HP:0002317Unsteady gait0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0002317HP:0002317Unsteady gait0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0002317HP:0002317Unsteady gait0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0002317HP:0002317Unsteady gait0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0002317HP:0002317Unsteady gait0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002317HP:0002317Unsteady gait0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002317HP:0002317Unsteady gait0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002317HP:0002317Unsteady gait0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0002317HP:0002317Unsteady gait0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0002317HP:0002317Unsteady gait0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002317HP:0002317Unsteady gait0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0002317HP:0002317Unsteady gait0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0002317HP:0002317Unsteady gait0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040282 - Frequent121
HP:0002317HP:0002317Unsteady gait0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0002317HP:0002317Unsteady gait0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002317HP:0002317Unsteady gait0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0002317HP:0002317Unsteady gait0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0002317HP:0002317Unsteady gait0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0002317HP:0002317Unsteady gait0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002317HP:0002317Unsteady gait0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0002317HP:0002317Unsteady gait0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0002317HP:0002317Unsteady gait0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0002317HP:0002317Unsteady gait0HPDL CL E G H8484228242OMIM:619027SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE; SPG83
HP:0002317HP:0002317Unsteady gait0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0002317HP:0002317Unsteady gait0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0002317HP:0002317Unsteady gait0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0002317HP:0002317Unsteady gait0KCNQ5 CL E G H564796299OMIM:617601Mental retardation, autosomal dominant 46.5
HP:0002317HP:0002317Unsteady gait0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0002317HP:0002317Unsteady gait0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040281 - Very frequent276
HP:0002317HP:0002317Unsteady gait0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040283 - Occasional38
HP:0002317HP:0002317Unsteady gait0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0002317HP:0002317Unsteady gait0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0002317HP:0002317Unsteady gait0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0002317HP:0002317Unsteady gait0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040281 - Very frequent140
HP:0002317HP:0002317Unsteady gait0MAST1 CL E G H2298319034OMIM:618273Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations.1
HP:0002317HP:0002317Unsteady gait0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0002317HP:0002317Unsteady gait0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.3
HP:0002317HP:0002317Unsteady gait0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0002317HP:0002317Unsteady gait0MME CL E G H43117154OMIM:617017Charcot-Marie-Tooth disease, axonal, type 2T.18
HP:0002317HP:0002317Unsteady gait0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0002317HP:0002317Unsteady gait0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0002317HP:0002317Unsteady gait0MTFMT CL E G H12326329666OMIM:614947Combined oxidative phosphorylation deficiency 15.29
HP:0002317HP:0002317Unsteady gait0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0002317HP:0002317Unsteady gait0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040282 - Frequent82
HP:0002317HP:0002317Unsteady gait0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002317HP:0002317Unsteady gait0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0002317HP:0002317Unsteady gait0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare52
HP:0002317HP:0002317Unsteady gait0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0002317HP:0002317Unsteady gait0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0002317HP:0002317Unsteady gait0NUDT2 CL E G H3188049OMIM:619844
HP:0002317HP:0002317Unsteady gait0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002317HP:0002317Unsteady gait0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency
HP:0002317HP:0002317Unsteady gait0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0002317HP:0002317Unsteady gait0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040282 - Frequent163
HP:0002317HP:0002317Unsteady gait0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0002317HP:0002317Unsteady gait0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0002317HP:0002317Unsteady gait0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
HP:0002317HP:0002317Unsteady gait0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0002317HP:0002317Unsteady gait0PCNA CL E G H51118729OMIM:615919Ataxia-Telangiectasia-Like disorder 2.1
HP:0002317HP:0002317Unsteady gait0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0002317HP:0002317Unsteady gait0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0002317HP:0002317Unsteady gait0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0002317HP:0002317Unsteady gait0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0002317HP:0002317Unsteady gait0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0002317HP:0002317Unsteady gait0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0002317HP:0002317Unsteady gait0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0002317HP:0002317Unsteady gait0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0002317HP:0002317Unsteady gait0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0002317HP:0002317Unsteady gait0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0002317HP:0002317Unsteady gait0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0002317HP:0002317Unsteady gait0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0002317HP:0002317Unsteady gait0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0002317HP:0002317Unsteady gait0PNPO CL E G H5516330260ORPHA:79096Pyridoxal phosphate-responsive seizuresHP:0040282 - Frequent92
HP:0002317HP:0002317Unsteady gait0PNPO CL E G H5516330260OMIM:610090Pyridoxamine 5-prime-phosphate oxidase deficiency.92
HP:0002317HP:0002317Unsteady gait0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent
HP:0002317HP:0002317Unsteady gait0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040283 - Occasional5
HP:0002317HP:0002317Unsteady gait0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0002317HP:0002317Unsteady gait0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 1.2
HP:0002317HP:0002317Unsteady gait0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002317HP:0002317Unsteady gait0PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0002317HP:0002317Unsteady gait0PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0002317HP:0002317Unsteady gait0PRNP CL E G H56219449OMIM:245300KURU, SUSCEPTIBILITY TO69
HP:0002317HP:0002317Unsteady gait0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0002317HP:0002317Unsteady gait0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0002317HP:0002317Unsteady gait0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0002317HP:0002317Unsteady gait0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0002317HP:0002317Unsteady gait0RNF170 CL E G H8179025358OMIM:608984Ataxia, sensory, autosomal dominant3
HP:0002317HP:0002317Unsteady gait0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0002317HP:0002317Unsteady gait0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0002317HP:0002317Unsteady gait0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0002317HP:0002317Unsteady gait0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0002317HP:0002317Unsteady gait0SAMD9L CL E G H2192851349ORPHA:2585Ataxia-pancytopenia syndromeHP:0040281 - Very frequent4
HP:0002317HP:0002317Unsteady gait0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome.4
HP:0002317HP:0002317Unsteady gait0SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0002317HP:0002317Unsteady gait0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare1053
HP:0002317HP:0002317Unsteady gait0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0002317HP:0002317Unsteady gait0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0002317HP:0002317Unsteady gait0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0002317HP:0002317Unsteady gait0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D.132
HP:0002317HP:0002317Unsteady gait0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0002317HP:0002317Unsteady gait0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0002317HP:0002317Unsteady gait0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002317HP:0002317Unsteady gait0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare255
HP:0002317HP:0002317Unsteady gait0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002317HP:0002317Unsteady gait0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare29
HP:0002317HP:0002317Unsteady gait0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040282 - Frequent19
HP:0002317HP:0002317Unsteady gait0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0002317HP:0002317Unsteady gait0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0002317HP:0002317Unsteady gait0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040282 - Frequent14
HP:0002317HP:0002317Unsteady gait0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 16.14
HP:0002317HP:0002317Unsteady gait0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0002317HP:0002317Unsteady gait0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040284 - Very rare108
HP:0002317HP:0002317Unsteady gait0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0002317HP:0002317Unsteady gait0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0002317HP:0002317Unsteady gait0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040282 - Frequent4
HP:0002317HP:0002317Unsteady gait0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0002317HP:0002317Unsteady gait0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0002317HP:0002317Unsteady gait0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002317HP:0002317Unsteady gait0TRPC3 CL E G H722212335OMIM:616410Spinocerebellar ataxia 41.1
HP:0002317HP:0002317Unsteady gait0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0002317HP:0002317Unsteady gait0VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset.6
HP:0002317HP:0002317Unsteady gait0VPS13D CL E G H5518723595ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0002317HP:0002317Unsteady gait0VPS41 CL E G H2707212713ORPHA:95434Autosomal recessive cerebellar ataxia-movement disorder syndromeHP:0040282 - Frequent
HP:0002317HP:0002317Unsteady gait0VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0002317HP:0002317Unsteady gait0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0002317HP:0002317Unsteady gait0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0002317HP:0002317Unsteady gait0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 26.4
HP:0002317HP:0002317Unsteady gait0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome5
HP:0002317HP:0002317Unsteady gait0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002317HP:0002317Unsteady gait0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0002317HP:0006962Gait instability, worse in the dark1RNF170 CL E G H8179025358OMIM:608984Ataxia, sensory, autosomal dominant.3


Genes (181) :AARS1 ACTL6B ADSS1 AIFM1 ALDH4A1 AP2M1 AP3B2 ARV1 ATP1A2 ATP1A3 ATP2B3 ATP6AP2 ATP6V1A ATP7A ATXN10 ATXN2 ATXN8 ATXN8OS BCL11B BSCL2 CACNA1A CACNA1B CACNA1G CACNA2D1 CAMTA1 CCDC88C CDK19 CELF2 CEP104 CHD2 CHD3 CIZ1 CLCN4 CLN5 CLN8 CLTC CNKSR2 CRAT CREBBP CWF19L1 CYFIP2 CYP2U1 DAB1 DAG1 DALRD3 DARS2 DCC DCPS DDHD1 DEAF1 DHDDS DHPS DHX16 DNM1 DOCK3 DPM3 EEF1A2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EP300 ERCC6 ERCC8 EXT2 FGD4 FGF12 FGF13 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GAN GARS1 GDAP1 GJB1 GLRX5 GRIN2D HACE1 HCN1 HERC2 HPDL HTT KCNA2 KCNB1 KCNQ5 KDM5B KIF1A KIF1C LCA5 LRAT MAPK8IP3 MAPT MAST1 MATR3 MCM3AP MGAT2 MME MPZ MTFMT NAT8L NDRG1 NECAP1 NEFL NEXMIF NF2 NTRK2 NUDT2 NUS1 OGDH OPA1 OPA3 P4HTM PACS1 PAK1 PARS2 PCNA PDE10A PDHX PEX1 PEX10 PEX16 PEX2 PITRM1 PLA2G6 PMP22 PMPCA PNPO POU4F1 PPP2R2B PPP2R5D PPP3CA PRKRA PRNP QRICH1 RAB11B REEP1 RNASEH1 RNF170 RPE65 RUBCN RUSC2 SACS SAMD9L SCN1A SCN3A SCN8A SDHA SGCA SHANK3 SLC13A5 SLC1A2 SLC2A1 SLC38A3 SLC6A1 SMS SPATA7 STAG2 STUB1 SUCLG1 SYNGAP1 SYNJ1 SYT14 SZT2 TPI1 TRAK1 TRPC3 UBA5 VAC14 VPS13D VPS41 VWA3B WLS WWOX XRCC1 XYLT2 YWHAG ZSWIM6

Diseases (134) :ORPHA:442835 ORPHA:482601 OMIM:300614 ORPHA:79101 ORPHA:1942 OMIM:128235 ORPHA:314978 ORPHA:93952 OMIM:300489 ORPHA:98761 OMIM:183090 ORPHA:98760 OMIM:618092 ORPHA:139536 ORPHA:98758 OMIM:616795 ORPHA:458803 OMIM:614756 ORPHA:314647 OMIM:616053 ORPHA:423275 OMIM:619988 OMIM:618205 ORPHA:420492 ORPHA:485350 ORPHA:228360 ORPHA:1947 OMIM:617917 OMIM:180849 ORPHA:453521 OMIM:616127 ORPHA:320411 OMIM:615030 OMIM:615945 ORPHA:280333 OMIM:613818 ORPHA:137898 OMIM:617542 OMIM:616459 ORPHA:101008 ORPHA:468620 OMIM:618480 OMIM:618733 OMIM:618292 OMIM:612937 OMIM:616409 OMIM:603896 ORPHA:90324 OMIM:616682 OMIM:609311 ORPHA:643 ORPHA:101097 ORPHA:99948 ORPHA:1175 ORPHA:401866 ORPHA:464282 OMIM:615516 OMIM:619027 OMIM:617435 OMIM:617601 OMIM:618109 ORPHA:101010 ORPHA:397946 ORPHA:364055 OMIM:618443 ORPHA:240094 OMIM:618273 ORPHA:600 OMIM:618124 OMIM:212066 OMIM:617017 ORPHA:497764 ORPHA:3115 OMIM:614947 OMIM:614063 ORPHA:99950 ORPHA:101085 ORPHA:637 OMIM:619844 OMIM:203740 OMIM:210000 ORPHA:67036 OMIM:618493 ORPHA:329224 OMIM:618158 OMIM:615919 OMIM:616921 ORPHA:494526 OMIM:245349 OMIM:214100 OMIM:614871 OMIM:614877 OMIM:614867 OMIM:619405 ORPHA:35069 OMIM:256600 ORPHA:98916 OMIM:213200 ORPHA:79096 OMIM:610090 ORPHA:98762 ORPHA:457279 OMIM:617711 ORPHA:210571 OMIM:603218 OMIM:245300 OMIM:617982 OMIM:617807 OMIM:616479 OMIM:608984 OMIM:615705 OMIM:617773 ORPHA:98 ORPHA:2585 OMIM:159550 OMIM:619806 OMIM:619259 OMIM:608099 OMIM:606232 ORPHA:3063 OMIM:301022 ORPHA:412057 OMIM:615768 ORPHA:17 ORPHA:284271 OMIM:615512 OMIM:616410 OMIM:617054 ORPHA:95434 OMIM:616948 OMIM:619648 OMIM:617633 OMIM:605822 OMIM:617865
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.