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
..expand
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
..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
..expandWaddling gait (HP:0002515) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002317HP:0002317Unsteady gait0AIFM1 CL E G H9131300614Deafness, X-linked 5300614C1845095OMIM14878768300169
HP:0002317HP:0002317Unsteady gait0ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1790801182350
HP:0002317HP:0002317Unsteady gait0ATP2B3 CL E G H492314978ORPHA1301816300014
HP:0002317HP:0002317Unsteady gait0ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0002317HP:0002317Unsteady gait0ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0002317HP:0002317Unsteady gait0ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0002317HP:0002317Unsteady gait0ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0002317HP:0002317Unsteady gait0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM133013222606558
HP:0002317HP:0002317Unsteady gait0BSCL2 CL E G H26580139536ORPHA143515832606158
HP:0002317HP:0002317Unsteady gait0CACNA1A CL E G H77398758ORPHA126891388601011
HP:0002317HP:0002317Unsteady gait0CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0002317HP:0002317Unsteady gait0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0002317HP:0002317Unsteady gait0CAMTA1 CL E G H23261314647ORPHA133418806611501
HP:0002317HP:0002317Unsteady gait0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM133418806611501
HP:0002317HP:0002317Unsteady gait0CCDC88C CL E G H440193423275ORPHA127919967611204
HP:0002317HP:0002317Unsteady gait0CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM127919967611204
HP:0002317HP:0002317Unsteady gait0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM12101918602120
HP:0002317HP:0002317Unsteady gait0CIZ1 CL E G H25792420492ORPHA123516744611420
HP:0002317HP:0002317Unsteady gait0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM11322342600184
HP:0002317HP:0002317Unsteady gait0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0002317HP:0002317Unsteady gait0CWF19L1 CL E G H55280453521ORPHA16625613616120
HP:0002317HP:0002317Unsteady gait0CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM16625613616120
HP:0002317HP:0002317Unsteady gait0CYP2U1 CL E G H113612320411ORPHA119520582610670
HP:0002317HP:0002317Unsteady gait0CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM119520582610670
HP:0002317HP:0002317Unsteady gait0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1822661603448
HP:0002317HP:0002317Unsteady gait0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110629812610534
HP:0002317HP:0002317Unsteady gait0DDHD1 CL E G H80821101008ORPHA130219714614603
HP:0002317HP:0002317Unsteady gait0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1603007605951
HP:0002317HP:0002317Unsteady gait0EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM14933192602959
HP:0002317HP:0002317Unsteady gait0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002317HP:0002317Unsteady gait0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002317HP:0002317Unsteady gait0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002317HP:0002317Unsteady gait0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002317HP:0002317Unsteady gait0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002317HP:0002317Unsteady gait0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0002317HP:0002317Unsteady gait0GAN CL E G H8139643ORPHA16614137605379
HP:0002317HP:0002317Unsteady gait0GARS CL E G H2617139536ORPHA14162600287
HP:0002317HP:0002317Unsteady gait0GJB1 CL E G H27051175CDK4 linked melanomaORPHA17974283304040
HP:0002317HP:0002317Unsteady gait0GLRX5 CL E G H51218401866ORPHA17720134609588
HP:0002317HP:0002317Unsteady gait0HACE1 CL E G H57531464282ORPHA110721033610876
HP:0002317HP:0002317Unsteady gait0HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16414868605837
HP:0002317HP:0002317Unsteady gait0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0002317HP:0002317Unsteady gait0KCNQ5 CL E G H56479617601MENTAL RETARDATION, AUTOSOMAL DOMINANT 46617601C4539851OMIM13266299607357
HP:0002317HP:0002317Unsteady gait0KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM113318039605393
HP:0002317HP:0002317Unsteady gait0KIF1A CL E G H547101010ORPHA12132888601255
HP:0002317HP:0002317Unsteady gait0MAST1 CL E G H22983618273618273618273OMIM17919034612256
HP:0002317HP:0002317Unsteady gait0MATR3 CL E G H9782600ORPHA13336912164015
HP:0002317HP:0002317Unsteady gait0MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM17216946603294
HP:0002317HP:0002317Unsteady gait0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0002317HP:0002317Unsteady gait0MME CL E G H4311497764ORPHA14227154120520
HP:0002317HP:0002317Unsteady gait0MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0002317HP:0002317Unsteady gait0MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM118129666611766
HP:0002317HP:0002317Unsteady gait0NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114526742610647
HP:0002317HP:0002317Unsteady gait0OPA3 CL E G H8020767036ORPHA14488142606580
HP:0002317HP:0002317Unsteady gait0PAK1 CL E G H5058618158INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY618158OMIM1438590602590
HP:0002317HP:0002317Unsteady gait0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1418729176740
HP:0002317HP:0002317Unsteady gait0PDE10A CL E G H10846494526ORPHA11618772610652
HP:0002317HP:0002317Unsteady gait0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11618772610652
HP:0002317HP:0002317Unsteady gait0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM128221350608769
HP:0002317HP:0002317Unsteady gait0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM13669717170993
HP:0002317HP:0002317Unsteady gait0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0002317HP:0002317Unsteady gait0PMP22 CL E G H537698916ORPHA14539118601097
HP:0002317HP:0002317Unsteady gait0PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0002317HP:0002317Unsteady gait0PNPO CL E G H5516379096ORPHA128130260603287
HP:0002317HP:0002317Unsteady gait0PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM128130260603287
HP:0002317HP:0002317Unsteady gait0PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM12339314114105
HP:0002317HP:0002317Unsteady gait0PRKRA CL E G H8575210571ORPHA11639438603424
HP:0002317HP:0002317Unsteady gait0PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11649449176640
HP:0002317HP:0002317Unsteady gait0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11129761604198
HP:0002317HP:0002317Unsteady gait0REEP1 CL E G H65055139536ORPHA137725786609139
HP:0002317HP:0002317Unsteady gait0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM110418466604123
HP:0002317HP:0002317Unsteady gait0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM111828991613516
HP:0002317HP:0002317Unsteady gait0SACS CL E G H2627898ORPHA1250610519604490
HP:0002317HP:0002317Unsteady gait0SAMD9L CL E G H2192852585ORPHA13791349611170
HP:0002317HP:0002317Unsteady gait0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM13791349611170
HP:0002317HP:0002317Unsteady gait0SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM153710805600119
HP:0002317HP:0002317Unsteady gait0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM177614294606230
HP:0002317HP:0002317Unsteady gait0STUB1 CL E G H10273412057ORPHA117011427607207
HP:0002317HP:0002317Unsteady gait0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM117011427607207
HP:0002317HP:0002317Unsteady gait0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM121911449611224
HP:0002317HP:0002317Unsteady gait0SYT14 CL E G H255928284271ORPHA19223143610949
HP:0002317HP:0002317Unsteady gait0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM114412009190450
HP:0002317HP:0002317Unsteady gait0TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM14412335602345
HP:0002317HP:0002317Unsteady gait0VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM122025507604632
HP:0002317HP:0002317Unsteady gait0VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM16328385614884
HP:0002317HP:0002317Unsteady gait0XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM15212828194360
HP:0002317HP:0002317Unsteady gait0ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM146629316615951
HP:0002317HP:0006962Gait instability, worse in the dark1AIFM1 CL E G H9131300614Deafness, X-linked 5300614C1845095OMIM14878768300169
HP:0002317HP:0006962Gait instability, worse in the dark1ATP1A3 CL E G H478128235Dystonia 12128235C1868681OMIM1790801182350
HP:0002317HP:0006962Gait instability, worse in the dark1ATP2B3 CL E G H492314978ORPHA1301816300014
HP:0002317HP:0006962Gait instability, worse in the dark1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11283869300011
HP:0002317HP:0006962Gait instability, worse in the dark1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0002317HP:0006962Gait instability, worse in the dark1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0002317HP:0006962Gait instability, worse in the dark1ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0002317HP:0006962Gait instability, worse in the dark1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM133013222606558
HP:0002317HP:0006962Gait instability, worse in the dark1BSCL2 CL E G H26580139536ORPHA143515832606158
HP:0002317HP:0006962Gait instability, worse in the dark1CACNA1A CL E G H77398758ORPHA126891388601011
HP:0002317HP:0006962Gait instability, worse in the dark1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0002317HP:0006962Gait instability, worse in the dark1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0002317HP:0006962Gait instability, worse in the dark1CAMTA1 CL E G H23261314647ORPHA133418806611501
HP:0002317HP:0006962Gait instability, worse in the dark1CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM133418806611501
HP:0002317HP:0006962Gait instability, worse in the dark1CCDC88C CL E G H440193423275ORPHA127919967611204
HP:0002317HP:0006962Gait instability, worse in the dark1CCDC88C CL E G H440193616053Spinocerebellar ataxia 40616053CN252333OMIM127919967611204
HP:0002317HP:0006962Gait instability, worse in the dark1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM12101918602120
HP:0002317HP:0006962Gait instability, worse in the dark1CIZ1 CL E G H25792420492ORPHA123516744611420
HP:0002317HP:0006962Gait instability, worse in the dark1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM11322342600184
HP:0002317HP:0006962Gait instability, worse in the dark1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0002317HP:0006962Gait instability, worse in the dark1CWF19L1 CL E G H55280453521ORPHA16625613616120
HP:0002317HP:0006962Gait instability, worse in the dark1CWF19L1 CL E G H55280616127Spinocerebellar ataxia, autosomal recessive 17616127C4015301OMIM16625613616120
HP:0002317HP:0006962Gait instability, worse in the dark1CYP2U1 CL E G H113612320411ORPHA119520582610670
HP:0002317HP:0006962Gait instability, worse in the dark1CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM119520582610670
HP:0002317HP:0006962Gait instability, worse in the dark1DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1822661603448
HP:0002317HP:0006962Gait instability, worse in the dark1DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110629812610534
HP:0002317HP:0006962Gait instability, worse in the dark1DDHD1 CL E G H80821101008ORPHA130219714614603
HP:0002317HP:0006962Gait instability, worse in the dark1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM1603007605951
HP:0002317HP:0006962Gait instability, worse in the dark1EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM14933192602959
HP:0002317HP:0006962Gait instability, worse in the dark1EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11423257606686
HP:0002317HP:0006962Gait instability, worse in the dark1EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11383258606454
HP:0002317HP:0006962Gait instability, worse in the dark1EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11403259606273
HP:0002317HP:0006962Gait instability, worse in the dark1EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11703260606687
HP:0002317HP:0006962Gait instability, worse in the dark1EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM14223261603945
HP:0002317HP:0006962Gait instability, worse in the dark1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0002317HP:0006962Gait instability, worse in the dark1GAN CL E G H8139643ORPHA16614137605379
HP:0002317HP:0006962Gait instability, worse in the dark1GARS CL E G H2617139536ORPHA14162600287
HP:0002317HP:0006962Gait instability, worse in the dark1GJB1 CL E G H27051175CDK4 linked melanomaORPHA17974283304040
HP:0002317HP:0006962Gait instability, worse in the dark1GLRX5 CL E G H51218401866ORPHA17720134609588
HP:0002317HP:0006962Gait instability, worse in the dark1HACE1 CL E G H57531464282ORPHA110721033610876
HP:0002317HP:0006962Gait instability, worse in the dark1HERC2 CL E G H8924615516Mental retardation, autosomal recessive 38615516C3809753OMIM16414868605837
HP:0002317HP:0006962Gait instability, worse in the dark1HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0002317HP:0006962Gait instability, worse in the dark1KCNQ5 CL E G H56479617601MENTAL RETARDATION, AUTOSOMAL DOMINANT 46617601C4539851OMIM13266299607357
HP:0002317HP:0006962Gait instability, worse in the dark1KDM5B CL E G H10765618109MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65618109CN253823OMIM113318039605393
HP:0002317HP:0006962Gait instability, worse in the dark1KIF1A CL E G H547101010ORPHA12132888601255
HP:0002317HP:0006962Gait instability, worse in the dark1MAST1 CL E G H22983618273618273618273OMIM17919034612256
HP:0002317HP:0006962Gait instability, worse in the dark1MATR3 CL E G H9782600ORPHA13336912164015
HP:0002317HP:0006962Gait instability, worse in the dark1MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM17216946603294
HP:0002317HP:0006962Gait instability, worse in the dark1MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11237045602616
HP:0002317HP:0006962Gait instability, worse in the dark1MME CL E G H4311497764ORPHA14227154120520
HP:0002317HP:0006962Gait instability, worse in the dark1MME CL E G H4311617017Charcot-Marie-Tooth disease, axonal, type 2T617017C4015635OMIM14227154120520
HP:0002317HP:0006962Gait instability, worse in the dark1MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM118129666611766
HP:0002317HP:0006962Gait instability, worse in the dark1NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM114526742610647
HP:0002317HP:0006962Gait instability, worse in the dark1OPA3 CL E G H8020767036ORPHA14488142606580
HP:0002317HP:0006962Gait instability, worse in the dark1PAK1 CL E G H5058618158INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY618158OMIM1438590602590
HP:0002317HP:0006962Gait instability, worse in the dark1PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1418729176740
HP:0002317HP:0006962Gait instability, worse in the dark1PDE10A CL E G H10846494526ORPHA11618772610652
HP:0002317HP:0006962Gait instability, worse in the dark1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11618772610652
HP:0002317HP:0006962Gait instability, worse in the dark1PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM128221350608769
HP:0002317HP:0006962Gait instability, worse in the dark1PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM13669717170993
HP:0002317HP:0006962Gait instability, worse in the dark1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0002317HP:0006962Gait instability, worse in the dark1PMP22 CL E G H537698916ORPHA14539118601097
HP:0002317HP:0006962Gait instability, worse in the dark1PMPCA CL E G H23203213200Spinocerebellar ataxia, autosomal recessive 2213200C1859298OMIM114018667613036
HP:0002317HP:0006962Gait instability, worse in the dark1PNPO CL E G H5516379096ORPHA128130260603287
HP:0002317HP:0006962Gait instability, worse in the dark1PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM128130260603287
HP:0002317HP:0006962Gait instability, worse in the dark1PPP3CA CL E G H5530617711EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1617711C4540199OMIM12339314114105
HP:0002317HP:0006962Gait instability, worse in the dark1PRKRA CL E G H8575210571ORPHA11639438603424
HP:0002317HP:0006962Gait instability, worse in the dark1PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11649449176640
HP:0002317HP:0006962Gait instability, worse in the dark1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM11129761604198
HP:0002317HP:0006962Gait instability, worse in the dark1REEP1 CL E G H65055139536ORPHA137725786609139
HP:0002317HP:0006962Gait instability, worse in the dark1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM110418466604123
HP:0002317HP:0006962Gait instability, worse in the dark1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM111828991613516
HP:0002317HP:0006962Gait instability, worse in the dark1SACS CL E G H2627898ORPHA1250610519604490
HP:0002317HP:0006962Gait instability, worse in the dark1SAMD9L CL E G H2192852585ORPHA13791349611170
HP:0002317HP:0006962Gait instability, worse in the dark1SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM13791349611170
HP:0002317HP:0006962Gait instability, worse in the dark1SGCA CL E G H6442608099Limb-girdle muscular dystrophy, type 2D608099C2936332OMIM153710805600119
HP:0002317HP:0006962Gait instability, worse in the dark1SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM177614294606230
HP:0002317HP:0006962Gait instability, worse in the dark1STUB1 CL E G H10273412057ORPHA117011427607207
HP:0002317HP:0006962Gait instability, worse in the dark1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM117011427607207
HP:0002317HP:0006962Gait instability, worse in the dark1SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM121911449611224
HP:0002317HP:0006962Gait instability, worse in the dark1SYT14 CL E G H255928284271ORPHA19223143610949
HP:0002317HP:0006962Gait instability, worse in the dark1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM114412009190450
HP:0002317HP:0006962Gait instability, worse in the dark1TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM14412335602345
HP:0002317HP:0006962Gait instability, worse in the dark1VAC14 CL E G H55697617054Striatonigral degeneration, childhood-onset617054C4310743OMIM122025507604632
HP:0002317HP:0006962Gait instability, worse in the dark1VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM16328385614884
HP:0002317HP:0006962Gait instability, worse in the dark1XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM15212828194360
HP:0002317HP:0006962Gait instability, worse in the dark1ZSWIM6 CL E G H57688617865NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES617865CN800196OMIM146629316615951
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002317HP:0002317Unsteady gait0AARS CL E G H16442835ORPHA020601065
HP:0002317HP:0002317Unsteady gait0AP3B2 CL E G H8120442835ORPHA0437567602166
HP:0002317HP:0002317Unsteady gait0ARV1 CL E G H64801442835ORPHA07129561611647
HP:0002317HP:0002317Unsteady gait0ATP6V1A CL E G H523442835ORPHA0123851607027
HP:0002317HP:0002317Unsteady gait0CACNA1A CL E G H773442835ORPHA026891388601011
HP:0002317HP:0002317Unsteady gait0CLTC CL E G H1213442835ORPHA03902092118955
HP:0002317HP:0002317Unsteady gait0CNKSR2 CL E G H22866442835ORPHA026419701300724
HP:0002317HP:0002317Unsteady gait0CYFIP2 CL E G H26999442835ORPHA041613760606323
HP:0002317HP:0002317Unsteady gait0DHDDS CL E G H79947442835ORPHA031820603608172
HP:0002317HP:0002317Unsteady gait0DNM1 CL E G H1759442835ORPHA06222972602377
HP:0002317HP:0002317Unsteady gait0EEF1A2 CL E G H1917442835ORPHA04933192602959
HP:0002317HP:0002317Unsteady gait0FGF12 CL E G H2257442835ORPHA02103668601513
HP:0002317HP:0002317Unsteady gait0GABRB2 CL E G H2561442835ORPHA04214082600232
HP:0002317HP:0002317Unsteady gait0GRIN2D CL E G H2906442835ORPHA05194588602717
HP:0002317HP:0002317Unsteady gait0HCN1 CL E G H348980442835ORPHA06354845602780
HP:0002317HP:0002317Unsteady gait0KCNA2 CL E G H3737442835ORPHA03256220176262
HP:0002317HP:0002317Unsteady gait0KCNB1 CL E G H3745442835ORPHA05186231600397
HP:0002317HP:0002317Unsteady gait0KIF1C CL E G H10749397946ORPHA03666317603060
HP:0002317HP:0002317Unsteady gait0NECAP1 CL E G H25977442835ORPHA016724539611623
HP:0002317HP:0002317Unsteady gait0NTRK2 CL E G H4915442835ORPHA03338032600456
HP:0002317HP:0002317Unsteady gait0NUS1 CL E G H116150442835ORPHA022021042610463
HP:0002317HP:0002317Unsteady gait0PPP2R2B CL E G H552198762ORPHA0449305604325
HP:0002317HP:0002317Unsteady gait0PPP3CA CL E G H5530442835ORPHA02339314114105
HP:0002317HP:0002317Unsteady gait0QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM07824713617387
HP:0002317HP:0002317Unsteady gait0SCN3A CL E G H6328442835ORPHA0109610590182391
HP:0002317HP:0002317Unsteady gait0SCN8A CL E G H6334442835ORPHA0149410596600702
HP:0002317HP:0002317Unsteady gait0SLC13A5 CL E G H284111442835ORPHA056823089608305
HP:0002317HP:0002317Unsteady gait0SLC1A2 CL E G H6506442835ORPHA023610940600300
HP:0002317HP:0002317Unsteady gait0STXBP1 CL E G H6812442835ORPHA087111444602926
HP:0002317HP:0002317Unsteady gait0SYNGAP1 CL E G H8831442835ORPHA0108611497603384
HP:0002317HP:0002317Unsteady gait0SYNJ1 CL E G H8867442835ORPHA0104611503604297
HP:0002317HP:0002317Unsteady gait0SZT2 CL E G H23334442835ORPHA0234229040615463
HP:0002317HP:0002317Unsteady gait0TRAK1 CL E G H22906442835ORPHA010629947608112
HP:0002317HP:0002317Unsteady gait0UBA5 CL E G H79876442835ORPHA015723230610552
HP:0002317HP:0002317Unsteady gait0WWOX CL E G H51741442835ORPHA096712799605131
HP:0002317HP:0002317Unsteady gait0YWHAG CL E G H7532442835ORPHA012812852605356
HP:0002317HP:0006962Gait instability, worse in the dark1AARS CL E G H16442835ORPHA020601065
HP:0002317HP:0006962Gait instability, worse in the dark1AP3B2 CL E G H8120442835ORPHA0437567602166
HP:0002317HP:0006962Gait instability, worse in the dark1ARV1 CL E G H64801442835ORPHA07129561611647
HP:0002317HP:0006962Gait instability, worse in the dark1ATP6V1A CL E G H523442835ORPHA0123851607027
HP:0002317HP:0006962Gait instability, worse in the dark1CACNA1A CL E G H773442835ORPHA026891388601011
HP:0002317HP:0006962Gait instability, worse in the dark1CLTC CL E G H1213442835ORPHA03902092118955
HP:0002317HP:0006962Gait instability, worse in the dark1CNKSR2 CL E G H22866442835ORPHA026419701300724
HP:0002317HP:0006962Gait instability, worse in the dark1CYFIP2 CL E G H26999442835ORPHA041613760606323
HP:0002317HP:0006962Gait instability, worse in the dark1DHDDS CL E G H79947442835ORPHA031820603608172
HP:0002317HP:0006962Gait instability, worse in the dark1DNM1 CL E G H1759442835ORPHA06222972602377
HP:0002317HP:0006962Gait instability, worse in the dark1EEF1A2 CL E G H1917442835ORPHA04933192602959
HP:0002317HP:0006962Gait instability, worse in the dark1FGF12 CL E G H2257442835ORPHA02103668601513
HP:0002317HP:0006962Gait instability, worse in the dark1GABRB2 CL E G H2561442835ORPHA04214082600232
HP:0002317HP:0006962Gait instability, worse in the dark1GRIN2D CL E G H2906442835ORPHA05194588602717
HP:0002317HP:0006962Gait instability, worse in the dark1HCN1 CL E G H348980442835ORPHA06354845602780
HP:0002317HP:0006962Gait instability, worse in the dark1KCNA2 CL E G H3737442835ORPHA03256220176262
HP:0002317HP:0006962Gait instability, worse in the dark1KCNB1 CL E G H3745442835ORPHA05186231600397
HP:0002317HP:0006962Gait instability, worse in the dark1KIF1C CL E G H10749397946ORPHA03666317603060
HP:0002317HP:0006962Gait instability, worse in the dark1NECAP1 CL E G H25977442835ORPHA016724539611623
HP:0002317HP:0006962Gait instability, worse in the dark1NTRK2 CL E G H4915442835ORPHA03338032600456
HP:0002317HP:0006962Gait instability, worse in the dark1NUS1 CL E G H116150442835ORPHA022021042610463
HP:0002317HP:0006962Gait instability, worse in the dark1PPP2R2B CL E G H552198762ORPHA0449305604325
HP:0002317HP:0006962Gait instability, worse in the dark1PPP3CA CL E G H5530442835ORPHA02339314114105
HP:0002317HP:0006962Gait instability, worse in the dark1QRICH1 CL E G H54870617982VERVERI-BRADY SYNDROME617982CN244927OMIM07824713617387
HP:0002317HP:0006962Gait instability, worse in the dark1SCN3A CL E G H6328442835ORPHA0109610590182391
HP:0002317HP:0006962Gait instability, worse in the dark1SCN8A CL E G H6334442835ORPHA0149410596600702
HP:0002317HP:0006962Gait instability, worse in the dark1SLC13A5 CL E G H284111442835ORPHA056823089608305
HP:0002317HP:0006962Gait instability, worse in the dark1SLC1A2 CL E G H6506442835ORPHA023610940600300
HP:0002317HP:0006962Gait instability, worse in the dark1STXBP1 CL E G H6812442835ORPHA087111444602926
HP:0002317HP:0006962Gait instability, worse in the dark1SYNGAP1 CL E G H8831442835ORPHA0108611497603384
HP:0002317HP:0006962Gait instability, worse in the dark1SYNJ1 CL E G H8867442835ORPHA0104611503604297
HP:0002317HP:0006962Gait instability, worse in the dark1SZT2 CL E G H23334442835ORPHA0234229040615463
HP:0002317HP:0006962Gait instability, worse in the dark1TRAK1 CL E G H22906442835ORPHA010629947608112
HP:0002317HP:0006962Gait instability, worse in the dark1UBA5 CL E G H79876442835ORPHA015723230610552
HP:0002317HP:0006962Gait instability, worse in the dark1WWOX CL E G H51741442835ORPHA096712799605131
HP:0002317HP:0006962Gait instability, worse in the dark1YWHAG CL E G H7532442835ORPHA012812852605356


Genes (111) :AARS AIFM1 AP3B2 ARV1 ATP1A3 ATP2B3 ATP6V1A ATP7A ATXN10 ATXN8 ATXN8OS BCL11B BSCL2 CACNA1A CACNA1G CAMTA1 CCDC88C CHD3 CIZ1 CLTC CNKSR2 CRAT CREBBP CWF19L1 CYFIP2 CYP2U1 DAB1 DCPS DDHD1 DHDDS DNM1 DPM3 EEF1A2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EP300 FGF12 GABRB2 GAN GARS GJB1 GLRX5 GRIN2D HACE1 HCN1 HERC2 HTT KCNA2 KCNB1 KCNQ5 KDM5B KIF1A KIF1C MAST1 MATR3 MCM3AP MGAT2 MME MTFMT NAT8L NECAP1 NTRK2 NUS1 OPA3 PAK1 PCNA PDE10A PDHX PEX2 PLA2G6 PMP22 PMPCA PNPO PPP2R2B PPP3CA PRKRA PRNP QRICH1 RAB11B REEP1 RNASEH1 RNF170 RUBCN SACS SAMD9L SCN3A SCN8A SGCA SHANK3 SLC13A5 SLC1A2 STUB1 STXBP1 SUCLG1 SYNGAP1 SYNJ1 SYT14 SZT2 TPI1 TRAK1 TRPC3 UBA5 VAC14 VWA3B WWOX XRCC1 YWHAG ZSWIM6

Diseases (84) :442835 300614 128235 314978 300489 98761 98760 618092 139536 98758 458803 616795 314647 614756 423275 616053 618205 420492 617917 180849 453521 616127 320411 615030 615945 616459 101008 612937 616409 603896 643 1175 401866 464282 615516 617435 617601 618109 101010 397946 618273 600 618124 212066 497764 617017 614947 614063 67036 618158 615919 494526 616921 245349 614867 256600 98916 213200 79096 610090 98762 617711 210571 603218 617982 617807 616479 615705 98 2585 159550 608099 606232 412057 615768 245400 284271 615512 616410 617054 616948 617633 617865 608984
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.