Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of movement (HP:0100022)help
Parent Node:
expand
Gait disturbance (HP:0001288)help
..Starting node
..expand
Inability to walk (HP:0002540)help
Term ID: 2540
Name: Inability to walk
Synonym: Inability to walk; Non-ambulatory
Definition: Incapability to ambulate.
Comments:
Reference: HP:0002540
Genes and Diseases:
 
       Child Nodes:
........expandProgressive inability to walk (HP:0002505) help
................... HP:0006794 Loss of ability to walk in first decade
................... HP:0006915 Inability to walk by childhood/adolescence
................... HP:0006957 Loss of ability to walk

 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
..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:0002540HP:0002540Inability to walk0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0002540HP:0002540Inability to walk0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0002540HP:0002540Inability to walk0AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0002540HP:0002540Inability to walk0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0002540HP:0002540Inability to walk0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0002540HP:0002540Inability to walk0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0002540HP:0002540Inability to walk0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0002540HP:0002540Inability to walk0ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM159697607669
HP:0002540HP:0002540Inability to walk0ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM158697607669
HP:0002540HP:0002540Inability to walk0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM143229357615115
HP:0002540HP:0002540Inability to walk0ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM141129357615115
HP:0002540HP:0002540Inability to walk0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0002540HP:0002540Inability to walk0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0002540HP:0002540Inability to walk0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0002540HP:0002540Inability to walk0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0002540HP:0002540Inability to walk0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM119313533605870
HP:0002540HP:0002540Inability to walk0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM112613533605870
HP:0002540HP:0002540Inability to walk0CACNA1E CL E G H777618285618285618285OMIM14101392601013
HP:0002540HP:0002540Inability to walk0CACNA1E CL E G H777618285618285618285OMIM16431392601013
HP:0002540HP:0002540Inability to walk0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0002540HP:0002540Inability to walk0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0002540HP:0002540Inability to walk0CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1621460114078
HP:0002540HP:0002540Inability to walk0CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1561460114078
HP:0002540HP:0002540Inability to walk0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0002540HP:0002540Inability to walk0CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0002540HP:0002540Inability to walk0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0002540HP:0002540Inability to walk0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0002540HP:0002540Inability to walk0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13731965100720
HP:0002540HP:0002540Inability to walk0CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13311965100720
HP:0002540HP:0002540Inability to walk0CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11632309605032
HP:0002540HP:0002540Inability to walk0CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11512309605032
HP:0002540HP:0002540Inability to walk0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0002540HP:0002540Inability to walk0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0002540HP:0002540Inability to walk0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1932510114025
HP:0002540HP:0002540Inability to walk0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1902510114025
HP:0002540HP:0002540Inability to walk0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM111029812610534
HP:0002540HP:0002540Inability to walk0DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110729812610534
HP:0002540HP:0002540Inability to walk0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0002540HP:0002540Inability to walk0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0002540HP:0002540Inability to walk0DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0002540HP:0002540Inability to walk0DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0002540HP:0002540Inability to walk0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM15062972602377
HP:0002540HP:0002540Inability to walk0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM14592972602377
HP:0002540HP:0002540Inability to walk0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002540HP:0002540Inability to walk0EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002540HP:0002540Inability to walk0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002540HP:0002540Inability to walk0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11633668601513
HP:0002540HP:0002540Inability to walk0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11273668601513
HP:0002540HP:0002540Inability to walk0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0002540HP:0002540Inability to walk0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0002540HP:0002540Inability to walk0GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15574507607340
HP:0002540HP:0002540Inability to walk0GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15044507607340
HP:0002540HP:0002540Inability to walk0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114915717606969
HP:0002540HP:0002540Inability to walk0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114215717606969
HP:0002540HP:0002540Inability to walk0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0002540HP:0002540Inability to walk0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0002540HP:0002540Inability to walk0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0002540HP:0002540Inability to walk0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0002540HP:0002540Inability to walk0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1514574138246
HP:0002540HP:0002540Inability to walk0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1474574138246
HP:0002540HP:0002540Inability to walk0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0002540HP:0002540Inability to walk0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0002540HP:0002540Inability to walk0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM15874584138249
HP:0002540HP:0002540Inability to walk0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM15314584138249
HP:0002540HP:0002540Inability to walk0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0002540HP:0002540Inability to walk0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0002540HP:0002540Inability to walk0KCNQ2 CL E G H3785439218ORPHA113806296602235
HP:0002540HP:0002540Inability to walk0KCNQ2 CL E G H3785439218ORPHA115346296602235
HP:0002540HP:0002540Inability to walk0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17926576605739
HP:0002540HP:0002540Inability to walk0KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17826576605739
HP:0002540HP:0002540Inability to walk0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA127396482156225
HP:0002540HP:0002540Inability to walk0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA123276482156225
HP:0002540HP:0002540Inability to walk0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM14121610610236
HP:0002540HP:0002540Inability to walk0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM13921610610236
HP:0002540HP:0002540Inability to walk0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15806814605283
HP:0002540HP:0002540Inability to walk0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15576814605283
HP:0002540HP:0002540Inability to walk0MAST1 CL E G H22983618273618273618273OMIM15719034612256
HP:0002540HP:0002540Inability to walk0MAST1 CL E G H22983618273618273618273OMIM15019034612256
HP:0002540HP:0002540Inability to walk0MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM16615505606048
HP:0002540HP:0002540Inability to walk0MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM16415505606048
HP:0002540HP:0002540Inability to walk0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM11696971154100
HP:0002540HP:0002540Inability to walk0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM1906971154100
HP:0002540HP:0002540Inability to walk0MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM13636996600662
HP:0002540HP:0002540Inability to walk0MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM13396996600662
HP:0002540HP:0002540Inability to walk0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111324858614785
HP:0002540HP:0002540Inability to walk0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM110224858614785
HP:0002540HP:0002540Inability to walk0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM15825897614397
HP:0002540HP:0002540Inability to walk0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM14525897614397
HP:0002540HP:0002540Inability to walk0MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15227225159440
HP:0002540HP:0002540Inability to walk0MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM14937225159440
HP:0002540HP:0002540Inability to walk0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16916618611994
HP:0002540HP:0002540Inability to walk0MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16316618611994
HP:0002540HP:0002540Inability to walk0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM16729678617619
HP:0002540HP:0002540Inability to walk0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM15929678617619
HP:0002540HP:0002540Inability to walk0MT-TE CL E G H45562596HantavirosisORPHA17479590025
HP:0002540HP:0002540Inability to walk0MYOT CL E G H9499266ORPHA126712399604103
HP:0002540HP:0002540Inability to walk0MYOT CL E G H9499266ORPHA124612399604103
HP:0002540HP:0002540Inability to walk0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0002540HP:0002540Inability to walk0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0002540HP:0002540Inability to walk0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM12028032600456
HP:0002540HP:0002540Inability to walk0NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM11168032600456
HP:0002540HP:0002540Inability to walk0OTUD6B CL E G H51633505237ORPHA15624281612021
HP:0002540HP:0002540Inability to walk0OTUD6B CL E G H51633505237ORPHA16124281612021
HP:0002540HP:0002540Inability to walk0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM16124281612021
HP:0002540HP:0002540Inability to walk0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM15624281612021
HP:0002540HP:0002540Inability to walk0PANK2 CL E G H80025216866ORPHA126315894606157
HP:0002540HP:0002540Inability to walk0PANK2 CL E G H80025216866ORPHA133115894606157
HP:0002540HP:0002540Inability to walk0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM18723719611801
HP:0002540HP:0002540Inability to walk0PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM18023719611801
HP:0002540HP:0002540Inability to walk0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM170926270613629
HP:0002540HP:0002540Inability to walk0PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM167226270613629
HP:0002540HP:0002540Inability to walk0PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM13014937610271
HP:0002540HP:0002540Inability to walk0PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM12814937610271
HP:0002540HP:0002540Inability to walk0PODXL CL E G H5420391411ORPHA1889171602632
HP:0002540HP:0002540Inability to walk0PODXL CL E G H5420391411ORPHA11049171602632
HP:0002540HP:0002540Inability to walk0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16869202607423
HP:0002540HP:0002540Inability to walk0POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16099202607423
HP:0002540HP:0002540Inability to walk0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM18930262616406
HP:0002540HP:0002540Inability to walk0PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM17730262616406
HP:0002540HP:0002540Inability to walk0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM123718756607352
HP:0002540HP:0002540Inability to walk0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM113718756607352
HP:0002540HP:0002540Inability to walk0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM189710590182391
HP:0002540HP:0002540Inability to walk0SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM174210590182391
HP:0002540HP:0002540Inability to walk0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM128321061614725
HP:0002540HP:0002540Inability to walk0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM124921061614725
HP:0002540HP:0002540Inability to walk0SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM148913818606726
HP:0002540HP:0002540Inability to walk0SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM139813818606726
HP:0002540HP:0002540Inability to walk0SLC16A2 CL E G H656759ORPHA129010923300095
HP:0002540HP:0002540Inability to walk0SLC16A2 CL E G H656759ORPHA131810923300095
HP:0002540HP:0002540Inability to walk0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM131810923300095
HP:0002540HP:0002540Inability to walk0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM129010923300095
HP:0002540HP:0002540Inability to walk0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM133510933604322
HP:0002540HP:0002540Inability to walk0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM128510933604322
HP:0002540HP:0002540Inability to walk0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM146116266606152
HP:0002540HP:0002540Inability to walk0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM140016266606152
HP:0002540HP:0002540Inability to walk0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM113310940600300
HP:0002540HP:0002540Inability to walk0SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM17210940600300
HP:0002540HP:0002540Inability to walk0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM110510942600229
HP:0002540HP:0002540Inability to walk0SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM17110942600229
HP:0002540HP:0002540Inability to walk0SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM126110990103220
HP:0002540HP:0002540Inability to walk0SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM125410990103220
HP:0002540HP:0002540Inability to walk0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM175311005138140
HP:0002540HP:0002540Inability to walk0SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM167211005138140
HP:0002540HP:0002540Inability to walk0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM19920862608732
HP:0002540HP:0002540Inability to walk0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM19320862608732
HP:0002540HP:0002540Inability to walk0SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM15631399610299
HP:0002540HP:0002540Inability to walk0SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM14831399610299
HP:0002540HP:0002540Inability to walk0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM115114977616105
HP:0002540HP:0002540Inability to walk0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM114614977616105
HP:0002540HP:0002540Inability to walk0ST3GAL3 CL E G H6487615006Early infantile epileptic encephalopathy 15615006C3554316OMIM122910866606494
HP:0002540HP:0002540Inability to walk0ST3GAL3 CL E G H6487615006Early infantile epileptic encephalopathy 15615006C3554316OMIM118110866606494
HP:0002540HP:0002540Inability to walk0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM123530172608626
HP:0002540HP:0002540Inability to walk0STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM119030172608626
HP:0002540HP:0002540Inability to walk0SYNJ1 CL E G H8867391411ORPHA173011503604297
HP:0002540HP:0002540Inability to walk0SYNJ1 CL E G H8867391411ORPHA190911503604297
HP:0002540HP:0002540Inability to walk0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM14411509185605
HP:0002540HP:0002540Inability to walk0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM13911509185605
HP:0002540HP:0002540Inability to walk0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14925622617687
HP:0002540HP:0002540Inability to walk0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14625622617687
HP:0002540HP:0002540Inability to walk0TFG CL E G H10342431329ORPHA123711758602498
HP:0002540HP:0002540Inability to walk0TFG CL E G H10342431329ORPHA126311758602498
HP:0002540HP:0002540Inability to walk0TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM126311758602498
HP:0002540HP:0002540Inability to walk0TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM123711758602498
HP:0002540HP:0002540Inability to walk0TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM116128128616183
HP:0002540HP:0002540Inability to walk0TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM110128128616183
HP:0002540HP:0002540Inability to walk0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002540HP:0002540Inability to walk0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002540HP:0002540Inability to walk0TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM129815974614141
HP:0002540HP:0002540Inability to walk0TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM126315974614141
HP:0002540HP:0002540Inability to walk0TUBB3 CL E G H10381300570ORPHA120520772602661
HP:0002540HP:0002540Inability to walk0TUBB3 CL E G H10381300570ORPHA121720772602661
HP:0002540HP:0002540Inability to walk0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM176526582612636
HP:0002540HP:0002540Inability to walk0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM126326582612636
HP:0002540HP:0002540Inability to walk0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM19029594612080
HP:0002540HP:0002540Inability to walk0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM18929594612080
HP:0002540HP:0002540Inability to walk0WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM15625072609226
HP:0002540HP:0002540Inability to walk0WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM15425072609226
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0002540HP:0002505Progressive inability to walk1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0002540HP:0002505Progressive inability to walk1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0002540HP:0006915Inability to walk by childhood/adolescence1AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0002540HP:0002505Progressive inability to walk1AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0002540HP:0002505Progressive inability to walk1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0002540HP:0002505Progressive inability to walk1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0002540HP:0006915Inability to walk by childhood/adolescence1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0002540HP:0006915Inability to walk by childhood/adolescence1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0002540HP:0006915Inability to walk by childhood/adolescence1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0002540HP:0006915Inability to walk by childhood/adolescence1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0002540HP:0002505Progressive inability to walk1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0002540HP:0002505Progressive inability to walk1AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM159697607669
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM158697607669
HP:0002540HP:0002505Progressive inability to walk1ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM159697607669
HP:0002540HP:0002505Progressive inability to walk1ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM158697607669
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM143229357615115
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM141129357615115
HP:0002540HP:0002505Progressive inability to walk1ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM143229357615115
HP:0002540HP:0002505Progressive inability to walk1ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM141129357615115
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0002540HP:0002505Progressive inability to walk1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0002540HP:0002505Progressive inability to walk1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0002540HP:0002505Progressive inability to walk1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0002540HP:0002505Progressive inability to walk1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM119313533605870
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM112613533605870
HP:0002540HP:0002505Progressive inability to walk1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM119313533605870
HP:0002540HP:0002505Progressive inability to walk1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM112613533605870
HP:0002540HP:0002505Progressive inability to walk1CACNA1E CL E G H777618285618285618285OMIM14101392601013
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CACNA1E CL E G H777618285618285618285OMIM16431392601013
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CACNA1E CL E G H777618285618285618285OMIM14101392601013
HP:0002540HP:0002505Progressive inability to walk1CACNA1E CL E G H777618285618285618285OMIM16431392601013
HP:0002540HP:0002505Progressive inability to walk1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0002540HP:0002505Progressive inability to walk1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0002540HP:0002505Progressive inability to walk1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1621460114078
HP:0002540HP:0002505Progressive inability to walk1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1561460114078
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1621460114078
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1561460114078
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0002540HP:0002505Progressive inability to walk1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0002540HP:0002505Progressive inability to walk1CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0002540HP:0002505Progressive inability to walk1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0002540HP:0002505Progressive inability to walk1CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13731965100720
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13311965100720
HP:0002540HP:0002505Progressive inability to walk1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13731965100720
HP:0002540HP:0002505Progressive inability to walk1CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13311965100720
HP:0002540HP:0002505Progressive inability to walk1CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11632309605032
HP:0002540HP:0002505Progressive inability to walk1CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11512309605032
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11632309605032
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11512309605032
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0002540HP:0002505Progressive inability to walk1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0002540HP:0002505Progressive inability to walk1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0002540HP:0002505Progressive inability to walk1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1932510114025
HP:0002540HP:0002505Progressive inability to walk1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1902510114025
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1932510114025
HP:0002540HP:0006915Inability to walk by childhood/adolescence1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1902510114025
HP:0002540HP:0006915Inability to walk by childhood/adolescence1DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM111029812610534
HP:0002540HP:0006915Inability to walk by childhood/adolescence1DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110729812610534
HP:0002540HP:0002505Progressive inability to walk1DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM111029812610534
HP:0002540HP:0002505Progressive inability to walk1DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110729812610534
HP:0002540HP:0006915Inability to walk by childhood/adolescence1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0002540HP:0006915Inability to walk by childhood/adolescence1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0002540HP:0002505Progressive inability to walk1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0002540HP:0002505Progressive inability to walk1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0002540HP:0002505Progressive inability to walk1DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0002540HP:0006915Inability to walk by childhood/adolescence1DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0002540HP:0006915Inability to walk by childhood/adolescence1DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0002540HP:0002505Progressive inability to walk1DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0002540HP:0006915Inability to walk by childhood/adolescence1DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM15062972602377
HP:0002540HP:0006915Inability to walk by childhood/adolescence1DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM14592972602377
HP:0002540HP:0002505Progressive inability to walk1DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM15062972602377
HP:0002540HP:0002505Progressive inability to walk1DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM14592972602377
HP:0002540HP:0006915Inability to walk by childhood/adolescence1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002540HP:0006915Inability to walk by childhood/adolescence1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002540HP:0002505Progressive inability to walk1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002540HP:0002505Progressive inability to walk1EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002540HP:0002505Progressive inability to walk1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002540HP:0006915Inability to walk by childhood/adolescence1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002540HP:0006915Inability to walk by childhood/adolescence1FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11633668601513
HP:0002540HP:0006915Inability to walk by childhood/adolescence1FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11273668601513
HP:0002540HP:0002505Progressive inability to walk1FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11633668601513
HP:0002540HP:0002505Progressive inability to walk1FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11273668601513
HP:0002540HP:0002505Progressive inability to walk1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0002540HP:0002505Progressive inability to walk1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0002540HP:0006915Inability to walk by childhood/adolescence1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0002540HP:0006915Inability to walk by childhood/adolescence1FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15574507607340
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15044507607340
HP:0002540HP:0002505Progressive inability to walk1GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15574507607340
HP:0002540HP:0002505Progressive inability to walk1GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15044507607340
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114915717606969
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114215717606969
HP:0002540HP:0002505Progressive inability to walk1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114915717606969
HP:0002540HP:0002505Progressive inability to walk1GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114215717606969
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0002540HP:0002505Progressive inability to walk1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM123422932615320
HP:0002540HP:0002505Progressive inability to walk1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM120322932615320
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0002540HP:0002505Progressive inability to walk1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0002540HP:0002505Progressive inability to walk1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1514574138246
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1474574138246
HP:0002540HP:0002505Progressive inability to walk1GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1514574138246
HP:0002540HP:0002505Progressive inability to walk1GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1474574138246
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0002540HP:0002505Progressive inability to walk1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0002540HP:0002505Progressive inability to walk1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM15874584138249
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM15314584138249
HP:0002540HP:0002505Progressive inability to walk1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM15874584138249
HP:0002540HP:0002505Progressive inability to walk1GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM15314584138249
HP:0002540HP:0002505Progressive inability to walk1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0002540HP:0002505Progressive inability to walk1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0002540HP:0002505Progressive inability to walk1KCNQ2 CL E G H3785439218ORPHA113806296602235
HP:0002540HP:0006915Inability to walk by childhood/adolescence1KCNQ2 CL E G H3785439218ORPHA115346296602235
HP:0002540HP:0006915Inability to walk by childhood/adolescence1KCNQ2 CL E G H3785439218ORPHA113806296602235
HP:0002540HP:0002505Progressive inability to walk1KCNQ2 CL E G H3785439218ORPHA115346296602235
HP:0002540HP:0006915Inability to walk by childhood/adolescence1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17926576605739
HP:0002540HP:0006915Inability to walk by childhood/adolescence1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17826576605739
HP:0002540HP:0002505Progressive inability to walk1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17926576605739
HP:0002540HP:0002505Progressive inability to walk1KY CL E G H339855617114Myopathy, myofibrillar, 7617114C4310711OMIM17826576605739
HP:0002540HP:0006915Inability to walk by childhood/adolescence1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA123276482156225
HP:0002540HP:0002505Progressive inability to walk1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA127396482156225
HP:0002540HP:0002505Progressive inability to walk1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA123276482156225
HP:0002540HP:0006915Inability to walk by childhood/adolescence1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA127396482156225
HP:0002540HP:0002505Progressive inability to walk1LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM14121610610236
HP:0002540HP:0002505Progressive inability to walk1LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM13921610610236
HP:0002540HP:0006915Inability to walk by childhood/adolescence1LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM14121610610236
HP:0002540HP:0006915Inability to walk by childhood/adolescence1LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM13921610610236
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15806814605283
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15576814605283
HP:0002540HP:0002505Progressive inability to walk1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15806814605283
HP:0002540HP:0002505Progressive inability to walk1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM15576814605283
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MAST1 CL E G H22983618273618273618273OMIM15019034612256
HP:0002540HP:0002505Progressive inability to walk1MAST1 CL E G H22983618273618273618273OMIM15719034612256
HP:0002540HP:0002505Progressive inability to walk1MAST1 CL E G H22983618273618273618273OMIM15019034612256
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MAST1 CL E G H22983618273618273618273OMIM15719034612256
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM16615505606048
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM16415505606048
HP:0002540HP:0002505Progressive inability to walk1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM16615505606048
HP:0002540HP:0002505Progressive inability to walk1MBOAT7 CL E G H79143617188Mental retardation, autosomal recessive 57617188C4310673OMIM16415505606048
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM11696971154100
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM1906971154100
HP:0002540HP:0002505Progressive inability to walk1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM11696971154100
HP:0002540HP:0002505Progressive inability to walk1MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM1906971154100
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM13636996600662
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM13396996600662
HP:0002540HP:0002505Progressive inability to walk1MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM13636996600662
HP:0002540HP:0002505Progressive inability to walk1MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM13396996600662
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111324858614785
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM110224858614785
HP:0002540HP:0002505Progressive inability to walk1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111324858614785
HP:0002540HP:0002505Progressive inability to walk1MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM110224858614785
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM15825897614397
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM14525897614397
HP:0002540HP:0002505Progressive inability to walk1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM15825897614397
HP:0002540HP:0002505Progressive inability to walk1MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM14525897614397
HP:0002540HP:0002505Progressive inability to walk1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15227225159440
HP:0002540HP:0002505Progressive inability to walk1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM14937225159440
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM15227225159440
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MPZ CL E G H4359618184Congenital hypomyelinating neuropathy 2618184OMIM14937225159440
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16916618611994
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16316618611994
HP:0002540HP:0002505Progressive inability to walk1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16916618611994
HP:0002540HP:0002505Progressive inability to walk1MRPS34 CL E G H65993617664COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32617664C4540029OMIM16316618611994
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM16729678617619
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM15929678617619
HP:0002540HP:0002505Progressive inability to walk1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM16729678617619
HP:0002540HP:0002505Progressive inability to walk1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM15929678617619
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MT-TE CL E G H45562596HantavirosisORPHA17479590025
HP:0002540HP:0002505Progressive inability to walk1MT-TE CL E G H45562596HantavirosisORPHA17479590025
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MYOT CL E G H9499266ORPHA124612399604103
HP:0002540HP:0002505Progressive inability to walk1MYOT CL E G H9499266ORPHA126712399604103
HP:0002540HP:0002505Progressive inability to walk1MYOT CL E G H9499266ORPHA124612399604103
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MYOT CL E G H9499266ORPHA126712399604103
HP:0002540HP:0006915Inability to walk by childhood/adolescence1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0002540HP:0006915Inability to walk by childhood/adolescence1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0002540HP:0002505Progressive inability to walk1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0002540HP:0002505Progressive inability to walk1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0002540HP:0006915Inability to walk by childhood/adolescence1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM12028032600456
HP:0002540HP:0006915Inability to walk by childhood/adolescence1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM11168032600456
HP:0002540HP:0002505Progressive inability to walk1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM12028032600456
HP:0002540HP:0002505Progressive inability to walk1NTRK2 CL E G H4915617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58617830CN757795OMIM11168032600456
HP:0002540HP:0002505Progressive inability to walk1OTUD6B CL E G H51633505237ORPHA15624281612021
HP:0002540HP:0006915Inability to walk by childhood/adolescence1OTUD6B CL E G H51633505237ORPHA16124281612021
HP:0002540HP:0006915Inability to walk by childhood/adolescence1OTUD6B CL E G H51633505237ORPHA15624281612021
HP:0002540HP:0002505Progressive inability to walk1OTUD6B CL E G H51633505237ORPHA16124281612021
HP:0002540HP:0006915Inability to walk by childhood/adolescence1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM16124281612021
HP:0002540HP:0006915Inability to walk by childhood/adolescence1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM15624281612021
HP:0002540HP:0002505Progressive inability to walk1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM16124281612021
HP:0002540HP:0002505Progressive inability to walk1OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM15624281612021
HP:0002540HP:0002505Progressive inability to walk1PANK2 CL E G H80025216866ORPHA126315894606157
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PANK2 CL E G H80025216866ORPHA133115894606157
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PANK2 CL E G H80025216866ORPHA126315894606157
HP:0002540HP:0002505Progressive inability to walk1PANK2 CL E G H80025216866ORPHA133115894606157
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM18723719611801
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM18023719611801
HP:0002540HP:0002505Progressive inability to walk1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM18723719611801
HP:0002540HP:0002505Progressive inability to walk1PGAP3 CL E G H93210615716Hyperphosphatasia with mental retardation syndrome 4615716C3810354OMIM18023719611801
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM170926270613629
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM167226270613629
HP:0002540HP:0002505Progressive inability to walk1PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM170926270613629
HP:0002540HP:0002505Progressive inability to walk1PIEZO2 CL E G H63895617146Arthrogryposis, distal, with impaired proprioception and touch617146C4310692OMIM167226270613629
HP:0002540HP:0002505Progressive inability to walk1PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM13014937610271
HP:0002540HP:0002505Progressive inability to walk1PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM12814937610271
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM13014937610271
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PIGS CL E G H94005618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18618143OMIM12814937610271
HP:0002540HP:0002505Progressive inability to walk1PODXL CL E G H5420391411ORPHA1889171602632
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PODXL CL E G H5420391411ORPHA11049171602632
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PODXL CL E G H5420391411ORPHA1889171602632
HP:0002540HP:0002505Progressive inability to walk1PODXL CL E G H5420391411ORPHA11049171602632
HP:0002540HP:0006915Inability to walk by childhood/adolescence1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16869202607423
HP:0002540HP:0006915Inability to walk by childhood/adolescence1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16099202607423
HP:0002540HP:0002505Progressive inability to walk1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16869202607423
HP:0002540HP:0002505Progressive inability to walk1POMT1 CL E G H10585613155Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1613155C3150415OMIM16099202607423
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM18930262616406
HP:0002540HP:0006915Inability to walk by childhood/adolescence1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM17730262616406
HP:0002540HP:0002505Progressive inability to walk1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM18930262616406
HP:0002540HP:0002505Progressive inability to walk1PYCR2 CL E G H29920616420Leukodystrophy, hypomyelinating, 10616420C4225332OMIM17730262616406
HP:0002540HP:0002505Progressive inability to walk1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM123718756607352
HP:0002540HP:0002505Progressive inability to walk1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM113718756607352
HP:0002540HP:0006915Inability to walk by childhood/adolescence1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM123718756607352
HP:0002540HP:0006915Inability to walk by childhood/adolescence1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM113718756607352
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM189710590182391
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM174210590182391
HP:0002540HP:0002505Progressive inability to walk1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM189710590182391
HP:0002540HP:0002505Progressive inability to walk1SCN3A CL E G H6328617938Early infantile epileptic encephalopathy 62617938CN244551OMIM174210590182391
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM128321061614725
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM124921061614725
HP:0002540HP:0002505Progressive inability to walk1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM128321061614725
HP:0002540HP:0002505Progressive inability to walk1SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM124921061614725
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM148913818606726
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM139813818606726
HP:0002540HP:0002505Progressive inability to walk1SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM148913818606726
HP:0002540HP:0002505Progressive inability to walk1SLC12A5 CL E G H57468616645Early infantile epileptic encephalopathy 34616645C4225257OMIM139813818606726
HP:0002540HP:0002505Progressive inability to walk1SLC16A2 CL E G H656759ORPHA129010923300095
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC16A2 CL E G H656759ORPHA131810923300095
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC16A2 CL E G H656759ORPHA129010923300095
HP:0002540HP:0002505Progressive inability to walk1SLC16A2 CL E G H656759ORPHA131810923300095
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM131810923300095
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM129010923300095
HP:0002540HP:0002505Progressive inability to walk1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM131810923300095
HP:0002540HP:0002505Progressive inability to walk1SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM129010923300095
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM133510933604322
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM128510933604322
HP:0002540HP:0002505Progressive inability to walk1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM133510933604322
HP:0002540HP:0002505Progressive inability to walk1SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM128510933604322
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM146116266606152
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM140016266606152
HP:0002540HP:0002505Progressive inability to walk1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM146116266606152
HP:0002540HP:0002505Progressive inability to walk1SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM140016266606152
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM113310940600300
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM17210940600300
HP:0002540HP:0002505Progressive inability to walk1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM113310940600300
HP:0002540HP:0002505Progressive inability to walk1SLC1A2 CL E G H6506617105Epileptic encephalopathy, early infantile, 41617105C4310717OMIM17210940600300
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM110510942600229
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM17110942600229
HP:0002540HP:0002505Progressive inability to walk1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM110510942600229
HP:0002540HP:0002505Progressive inability to walk1SLC1A4 CL E G H6509616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657C4225254OMIM17110942600229
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM126110990103220
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM125410990103220
HP:0002540HP:0002505Progressive inability to walk1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM126110990103220
HP:0002540HP:0002505Progressive inability to walk1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM125410990103220
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM175311005138140
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM167211005138140
HP:0002540HP:0002505Progressive inability to walk1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM175311005138140
HP:0002540HP:0002505Progressive inability to walk1SLC2A1 CL E G H6513608885Stomatin-deficient cryohydrocytosis with neurologic defects608885C1837206OMIM167211005138140
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM19920862608732
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM19320862608732
HP:0002540HP:0002505Progressive inability to walk1SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM19920862608732
HP:0002540HP:0002505Progressive inability to walk1SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM19320862608732
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM15631399610299
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM14831399610299
HP:0002540HP:0002505Progressive inability to walk1SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM15631399610299
HP:0002540HP:0002505Progressive inability to walk1SLC6A17 CL E G H388662616269Mental retardation, autosomal recessive 48616269C4225395OMIM14831399610299
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM115114977616105
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM114614977616105
HP:0002540HP:0002505Progressive inability to walk1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM115114977616105
HP:0002540HP:0002505Progressive inability to walk1SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM114614977616105
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ST3GAL3 CL E G H6487615006Early infantile epileptic encephalopathy 15615006C3554316OMIM122910866606494
HP:0002540HP:0006915Inability to walk by childhood/adolescence1ST3GAL3 CL E G H6487615006Early infantile epileptic encephalopathy 15615006C3554316OMIM118110866606494
HP:0002540HP:0002505Progressive inability to walk1ST3GAL3 CL E G H6487615006Early infantile epileptic encephalopathy 15615006C3554316OMIM122910866606494
HP:0002540HP:0002505Progressive inability to walk1ST3GAL3 CL E G H6487615006Early infantile epileptic encephalopathy 15615006C3554316OMIM118110866606494
HP:0002540HP:0006915Inability to walk by childhood/adolescence1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM123530172608626
HP:0002540HP:0006915Inability to walk by childhood/adolescence1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM119030172608626
HP:0002540HP:0002505Progressive inability to walk1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM123530172608626
HP:0002540HP:0002505Progressive inability to walk1STRADA CL E G H92335611087Polyhydramnios, megalencephaly, and symptomatic epilepsy611087C1970203OMIM119030172608626
HP:0002540HP:0002505Progressive inability to walk1SYNJ1 CL E G H8867391411ORPHA173011503604297
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SYNJ1 CL E G H8867391411ORPHA190911503604297
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SYNJ1 CL E G H8867391411ORPHA173011503604297
HP:0002540HP:0002505Progressive inability to walk1SYNJ1 CL E G H8867391411ORPHA190911503604297
HP:0002540HP:0002505Progressive inability to walk1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM14411509185605
HP:0002540HP:0002505Progressive inability to walk1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM13911509185605
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM14411509185605
HP:0002540HP:0006915Inability to walk by childhood/adolescence1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM13911509185605
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14925622617687
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14625622617687
HP:0002540HP:0002505Progressive inability to walk1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14925622617687
HP:0002540HP:0002505Progressive inability to walk1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM14625622617687
HP:0002540HP:0002505Progressive inability to walk1TFG CL E G H10342431329ORPHA123711758602498
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TFG CL E G H10342431329ORPHA126311758602498
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TFG CL E G H10342431329ORPHA123711758602498
HP:0002540HP:0002505Progressive inability to walk1TFG CL E G H10342431329ORPHA126311758602498
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM126311758602498
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM123711758602498
HP:0002540HP:0002505Progressive inability to walk1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM126311758602498
HP:0002540HP:0002505Progressive inability to walk1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM123711758602498
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM116128128616183
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM110128128616183
HP:0002540HP:0002505Progressive inability to walk1TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM116128128616183
HP:0002540HP:0002505Progressive inability to walk1TMEM107 CL E G H84314617563OROFACIODIGITAL SYNDROME XVI617563C4539729OMIM110128128616183
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002540HP:0002505Progressive inability to walk1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002540HP:0002505Progressive inability to walk1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM129815974614141
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM126315974614141
HP:0002540HP:0002505Progressive inability to walk1TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM129815974614141
HP:0002540HP:0002505Progressive inability to walk1TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM126315974614141
HP:0002540HP:0002505Progressive inability to walk1TUBB3 CL E G H10381300570ORPHA120520772602661
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TUBB3 CL E G H10381300570ORPHA121720772602661
HP:0002540HP:0006915Inability to walk by childhood/adolescence1TUBB3 CL E G H10381300570ORPHA120520772602661
HP:0002540HP:0002505Progressive inability to walk1TUBB3 CL E G H10381300570ORPHA121720772602661
HP:0002540HP:0006915Inability to walk by childhood/adolescence1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM176526582612636
HP:0002540HP:0006915Inability to walk by childhood/adolescence1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM126326582612636
HP:0002540HP:0002505Progressive inability to walk1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM176526582612636
HP:0002540HP:0002505Progressive inability to walk1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM126326582612636
HP:0002540HP:0006915Inability to walk by childhood/adolescence1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM19029594612080
HP:0002540HP:0006915Inability to walk by childhood/adolescence1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM18929594612080
HP:0002540HP:0002505Progressive inability to walk1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM19029594612080
HP:0002540HP:0002505Progressive inability to walk1UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM18929594612080
HP:0002540HP:0002505Progressive inability to walk1WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM15625072609226
HP:0002540HP:0002505Progressive inability to walk1WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM15425072609226
HP:0002540HP:0006915Inability to walk by childhood/adolescence1WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM15625072609226
HP:0002540HP:0006915Inability to walk by childhood/adolescence1WDR45B CL E G H56270617977NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES617977CN244929OMIM15425072609226
HP:0002540HP:0006794Loss of ability to walk in first decade2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0002540HP:0006957Loss of ability to walk2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0002540HP:0006794Loss of ability to walk in first decade2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0002540HP:0006957Loss of ability to walk2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0002540HP:0008945Loss of ability to walk in early childhood2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0002540HP:0008945Loss of ability to walk in early childhood2ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0002540HP:0006794Loss of ability to walk in first decade2AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0002540HP:0008945Loss of ability to walk in early childhood2AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0002540HP:0006957Loss of ability to walk2AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0002540HP:0008945Loss of ability to walk in early childhood2AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0002540HP:0008945Loss of ability to walk in early childhood2AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0002540HP:0006957Loss of ability to walk2AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0002540HP:0006794Loss of ability to walk in first decade2AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0002540HP:0006957Loss of ability to walk2AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0002540HP:0006794Loss of ability to walk in first decade2AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0002540HP:0006957Loss of ability to walk2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0002540HP:0006794Loss of ability to walk in first decade2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0002540HP:0006794Loss of ability to walk in first decade2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0002540HP:0006957Loss of ability to walk2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0002540HP:0008945Loss of ability to walk in early childhood2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1254572607245
HP:0002540HP:0008945Loss of ability to walk in early childhood2AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM1189572607245
HP:0002540HP:0006957Loss of ability to walk2ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM159697607669
HP:0002540HP:0006794Loss of ability to walk in first decade2ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM159697607669
HP:0002540HP:0006957Loss of ability to walk2ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM158697607669
HP:0002540HP:0006794Loss of ability to walk in first decade2ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM158697607669
HP:0002540HP:0008945Loss of ability to walk in early childhood2ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM159697607669
HP:0002540HP:0008945Loss of ability to walk in early childhood2ARL6IP1 CL E G H23204615685Spastic paraplegia 61, autosomal recessive615685C3810294OMIM158697607669
HP:0002540HP:0006794Loss of ability to walk in first decade2ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM143229357615115
HP:0002540HP:0006957Loss of ability to walk2ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM143229357615115
HP:0002540HP:0006957Loss of ability to walk2ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM141129357615115
HP:0002540HP:0006794Loss of ability to walk in first decade2ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM141129357615115
HP:0002540HP:0008945Loss of ability to walk in early childhood2ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM143229357615115
HP:0002540HP:0008945Loss of ability to walk in early childhood2ASXL3 CL E G H80816615485Bainbridge-Ropers syndrome615485C3809650OMIM141129357615115
HP:0002540HP:0006794Loss of ability to walk in first decade2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0002540HP:0006957Loss of ability to walk2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0002540HP:0006794Loss of ability to walk in first decade2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0002540HP:0006957Loss of ability to walk2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0002540HP:0008945Loss of ability to walk in early childhood2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0002540HP:0008945Loss of ability to walk in early childhood2ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0002540HP:0008945Loss of ability to walk in early childhood2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0002540HP:0008945Loss of ability to walk in early childhood2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0002540HP:0006957Loss of ability to walk2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0002540HP:0006794Loss of ability to walk in first decade2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0002540HP:0006957Loss of ability to walk2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0002540HP:0006794Loss of ability to walk in first decade2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0002540HP:0006794Loss of ability to walk in first decade2ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM119313533605870
HP:0002540HP:0006957Loss of ability to walk2ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM119313533605870
HP:0002540HP:0006794Loss of ability to walk in first decade2ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM112613533605870
HP:0002540HP:0006957Loss of ability to walk2ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM112613533605870
HP:0002540HP:0008945Loss of ability to walk in early childhood2ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM119313533605870
HP:0002540HP:0008945Loss of ability to walk in early childhood2ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM112613533605870
HP:0002540HP:0008945Loss of ability to walk in early childhood2CACNA1E CL E G H777618285618285618285OMIM14101392601013
HP:0002540HP:0006957Loss of ability to walk2CACNA1E CL E G H777618285618285618285OMIM16431392601013
HP:0002540HP:0006794Loss of ability to walk in first decade2CACNA1E CL E G H777618285618285618285OMIM16431392601013
HP:0002540HP:0006957Loss of ability to walk2CACNA1E CL E G H777618285618285618285OMIM14101392601013
HP:0002540HP:0006794Loss of ability to walk in first decade2CACNA1E CL E G H777618285618285618285OMIM14101392601013
HP:0002540HP:0008945Loss of ability to walk in early childhood2CACNA1E CL E G H777618285618285618285OMIM16431392601013
HP:0002540HP:0008945Loss of ability to walk in early childhood2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0002540HP:0008945Loss of ability to walk in early childhood2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0002540HP:0006957Loss of ability to walk2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0002540HP:0006794Loss of ability to walk in first decade2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13741394604065
HP:0002540HP:0006794Loss of ability to walk in first decade2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0002540HP:0006957Loss of ability to walk2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM13571394604065
HP:0002540HP:0008945Loss of ability to walk in early childhood2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1621460114078
HP:0002540HP:0008945Loss of ability to walk in early childhood2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1561460114078
HP:0002540HP:0006957Loss of ability to walk2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1621460114078
HP:0002540HP:0006794Loss of ability to walk in first decade2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1621460114078
HP:0002540HP:0006957Loss of ability to walk2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1561460114078
HP:0002540HP:0006794Loss of ability to walk in first decade2CAMK2A CL E G H815618095MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63618095CN253430OMIM1561460114078
HP:0002540HP:0006957Loss of ability to walk2CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0002540HP:0006794Loss of ability to walk in first decade2CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0002540HP:0006957Loss of ability to walk2CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0002540HP:0006794Loss of ability to walk in first decade2CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0002540HP:0008945Loss of ability to walk in early childhood2CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM11691461607707
HP:0002540HP:0008945Loss of ability to walk in early childhood2CAMK2B CL E G H816617799MENTAL RETARDATION, AUTOSOMAL DOMINANT 54617799C4540484OMIM1881461607707
HP:0002540HP:0006957Loss of ability to walk2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0002540HP:0006794Loss of ability to walk in first decade2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0002540HP:0006957Loss of ability to walk2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0002540HP:0006794Loss of ability to walk in first decade2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0002540HP:0008945Loss of ability to walk in early childhood2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1139911411300203
HP:0002540HP:0008945Loss of ability to walk in early childhood2CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1127011411300203
HP:0002540HP:0006957Loss of ability to walk2CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13731965100720
HP:0002540HP:0006794Loss of ability to walk in first decade2CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13731965100720
HP:0002540HP:0006957Loss of ability to walk2CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13311965100720
HP:0002540HP:0006794Loss of ability to walk in first decade2CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13311965100720
HP:0002540HP:0008945Loss of ability to walk in early childhood2CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13731965100720
HP:0002540HP:0008945Loss of ability to walk in early childhood2CHRND CL E G H1144616321Myasthenic syndrome, congenital, 3a, slow-channel616321C4225372OMIM13311965100720
HP:0002540HP:0008945Loss of ability to walk in early childhood2CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11632309605032
HP:0002540HP:0008945Loss of ability to walk in early childhood2CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11512309605032
HP:0002540HP:0006957Loss of ability to walk2CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11632309605032
HP:0002540HP:0006794Loss of ability to walk in first decade2CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11632309605032
HP:0002540HP:0006957Loss of ability to walk2CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11512309605032
HP:0002540HP:0006794Loss of ability to walk in first decade2CPLX1 CL E G H10815617976EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63617976CN244926OMIM11512309605032
HP:0002540HP:0006957Loss of ability to walk2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0002540HP:0006794Loss of ability to walk in first decade2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0002540HP:0006957Loss of ability to walk2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0002540HP:0006794Loss of ability to walk in first decade2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0002540HP:0008945Loss of ability to walk in early childhood2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11872494602618
HP:0002540HP:0008945Loss of ability to walk in early childhood2CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM11742494602618
HP:0002540HP:0008945Loss of ability to walk in early childhood2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1932510114025
HP:0002540HP:0008945Loss of ability to walk in early childhood2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1902510114025
HP:0002540HP:0006957Loss of ability to walk2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1932510114025
HP:0002540HP:0006794Loss of ability to walk in first decade2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1932510114025
HP:0002540HP:0006957Loss of ability to walk2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1902510114025
HP:0002540HP:0006794Loss of ability to walk in first decade2CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1902510114025
HP:0002540HP:0006957Loss of ability to walk2DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM111029812610534
HP:0002540HP:0006794Loss of ability to walk in first decade2DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM111029812610534
HP:0002540HP:0006957Loss of ability to walk2DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110729812610534
HP:0002540HP:0006794Loss of ability to walk in first decade2DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110729812610534
HP:0002540HP:0008945Loss of ability to walk in early childhood2DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM111029812610534
HP:0002540HP:0008945Loss of ability to walk in early childhood2DCPS CL E G H28960616459AL-RAQAD SYNDROME616459C4085595OMIM110729812610534
HP:0002540HP:0006957Loss of ability to walk2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0002540HP:0006794Loss of ability to walk in first decade2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0002540HP:0006957Loss of ability to walk2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0002540HP:0006794Loss of ability to walk in first decade2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0002540HP:0008945Loss of ability to walk in early childhood2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0002540HP:0008945Loss of ability to walk in early childhood2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0002540HP:0008945Loss of ability to walk in early childhood2DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0002540HP:0006957Loss of ability to walk2DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0002540HP:0006794Loss of ability to walk in first decade2DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0002540HP:0006957Loss of ability to walk2DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0002540HP:0006794Loss of ability to walk in first decade2DNAJC6 CL E G H9829391411ORPHA117315469608375
HP:0002540HP:0008945Loss of ability to walk in early childhood2DNAJC6 CL E G H9829391411ORPHA121515469608375
HP:0002540HP:0006794Loss of ability to walk in first decade2DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM15062972602377
HP:0002540HP:0006957Loss of ability to walk2DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM15062972602377
HP:0002540HP:0006794Loss of ability to walk in first decade2DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM14592972602377
HP:0002540HP:0006957Loss of ability to walk2DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM14592972602377
HP:0002540HP:0008945Loss of ability to walk in early childhood2DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM15062972602377
HP:0002540HP:0008945Loss of ability to walk in early childhood2DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM14592972602377
HP:0002540HP:0006957Loss of ability to walk2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002540HP:0006794Loss of ability to walk in first decade2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002540HP:0006957Loss of ability to walk2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002540HP:0006794Loss of ability to walk in first decade2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002540HP:0008945Loss of ability to walk in early childhood2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11963267300161
HP:0002540HP:0008945Loss of ability to walk in early childhood2EIF2S3 CL E G H1968300148MEHMO syndrome300148C1846278OMIM11903267300161
HP:0002540HP:0006794Loss of ability to walk in first decade2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002540HP:0008945Loss of ability to walk in early childhood2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002540HP:0006957Loss of ability to walk2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002540HP:0006957Loss of ability to walk2FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11633668601513
HP:0002540HP:0006794Loss of ability to walk in first decade2FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11633668601513
HP:0002540HP:0006957Loss of ability to walk2FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11273668601513
HP:0002540HP:0006794Loss of ability to walk in first decade2FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11273668601513
HP:0002540HP:0008945Loss of ability to walk in early childhood2FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11633668601513
HP:0002540HP:0008945Loss of ability to walk in early childhood2FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11273668601513
HP:0002540HP:0006957Loss of ability to walk2FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0002540HP:0006794Loss of ability to walk in first decade2FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0002540HP:0008945Loss of ability to walk in early childhood2FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0002540HP:0008945Loss of ability to walk in early childhood2FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0002540HP:0006957Loss of ability to walk2FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0002540HP:0006794Loss of ability to walk in first decade2FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0002540HP:0006957Loss of ability to walk2GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15574507607340
HP:0002540HP:0006794Loss of ability to walk in first decade2GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15574507607340
HP:0002540HP:0006957Loss of ability to walk2GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15044507607340
HP:0002540HP:0006794Loss of ability to walk in first decade2GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15044507607340
HP:0002540HP:0008945Loss of ability to walk in early childhood2GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15574507607340
HP:0002540HP:0008945Loss of ability to walk in early childhood2GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM15044507607340
HP:0002540HP:0006794Loss of ability to walk in first decade2GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114915717606969
HP:0002540HP:0006957Loss of ability to walk2GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM114915717606969
HP:0002540HP:0006794Loss of ability to walk in first decade2GEMIN4 CL E