Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Gait disturbance (HP:0001288)help
..Starting node
..expand
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
..expandobsolete Toe walking (HP:0040083) help
..expandScissor gait (HP:0012407) help
..expandShuffling gait (HP:0002362) help
..expandSteppage gait (HP:0003376) help
..expandTip-toe gait (HP:0030051) help
..expandUnsteady gait (HP:0002317) help
..expandWaddling gait (HP:0002515) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002540HP:0002540Inability to walk0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040284 - Very rare135
HP:0002540HP:0002540Inability to walk0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002540HP:0002540Inability to walk0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0002540HP:0002540Inability to walk0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0002540HP:0002540Inability to walk0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0002540HP:0002540Inability to walk0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0002540HP:0002540Inability to walk0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0002540HP:0002540Inability to walk0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0002540HP:0002540Inability to walk0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0002540HP:0002540Inability to walk0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040283 - Occasional
HP:0002540HP:0002540Inability to walk0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0002540HP:0002540Inability to walk0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0002540HP:0002540Inability to walk0ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9B89
HP:0002540HP:0002540Inability to walk0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent114
HP:0002540HP:0002540Inability to walk0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0002540HP:0002540Inability to walk0AP4B1 CL E G H10717572OMIM:614066Spastic paraplegia 47, autosomal recessive.49
HP:0002540HP:0002540Inability to walk0AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive18
HP:0002540HP:0002540Inability to walk0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0002540HP:0002540Inability to walk0ARL6IP1 CL E G H23204697OMIM:615685Spastic paraplegia 61, autosomal recessive.1
HP:0002540HP:0002540Inability to walk0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040283 - Occasional78
HP:0002540HP:0002540Inability to walk0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040281 - Very frequent48
HP:0002540HP:0002540Inability to walk0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0002540HP:0002540Inability to walk0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040283 - Occasional49
HP:0002540HP:0002540Inability to walk0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0002540HP:0002540Inability to walk0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0002540HP:0002540Inability to walk0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional71
HP:0002540HP:0002540Inability to walk0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional5
HP:0002540HP:0002540Inability to walk0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0002540HP:0002540Inability to walk0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0002540HP:0002540Inability to walk0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0002540HP:0002540Inability to walk0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0002540HP:0002540Inability to walk0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0002540HP:0002540Inability to walk0ATP8A2 CL E G H5176113533OMIM:615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4.24
HP:0002540HP:0002540Inability to walk0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0002540HP:0002540Inability to walk0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0002540HP:0002540Inability to walk0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0002540HP:0002540Inability to walk0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive114
HP:0002540HP:0002540Inability to walk0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0002540HP:0002540Inability to walk0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0002540HP:0002540Inability to walk0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0002540HP:0002540Inability to walk0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0002540HP:0002540Inability to walk0CAMK2A CL E G H8151460OMIM:618095Mental retardation, autosomal recessive 63.1
HP:0002540HP:0002540Inability to walk0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54.
HP:0002540HP:0002540Inability to walk0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0002540HP:0002540Inability to walk0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2.405
HP:0002540HP:0002540Inability to walk0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0002540HP:0002540Inability to walk0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare200
HP:0002540HP:0002540Inability to walk0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0002540HP:0002540Inability to walk0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0002540HP:0002540Inability to walk0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002540HP:0002540Inability to walk0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040284 - Very rare11
HP:0002540HP:0002540Inability to walk0CHKA CL E G H11191937OMIM:620023
HP:0002540HP:0002540Inability to walk0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel.88
HP:0002540HP:0002540Inability to walk0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0002540HP:0002540Inability to walk0CLIC2 CL E G H11932063ORPHA:324410X-linked intellectual disability-cardiomegaly-congestive heart failure syndromeHP:0040283 - Occasional4
HP:0002540HP:0002540Inability to walk0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3216
HP:0002540HP:0002540Inability to walk0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002540HP:0002540Inability to walk0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040281 - Very frequent141
HP:0002540HP:0002540Inability to walk0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040281 - Very frequent111
HP:0002540HP:0002540Inability to walk0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0002540HP:0002540Inability to walk0CNPY3 CL E G H1069511968OMIM:617929Epileptic encephalopathy, early infantile, 60
HP:0002540HP:0002540Inability to walk0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0002540HP:0002540Inability to walk0COPB2 CL E G H92762232OMIM:619884
HP:0002540HP:0002540Inability to walk0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0002540HP:0002540Inability to walk0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0002540HP:0002540Inability to walk0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8
HP:0002540HP:0002540Inability to walk0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0002540HP:0002540Inability to walk0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.2
HP:0002540HP:0002540Inability to walk0CTNNA2 CL E G H14962510OMIM:618174Cortical dysplasia, complex, with other brain malformations 9.2
HP:0002540HP:0002540Inability to walk0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0002540HP:0002540Inability to walk0DCPS CL E G H2896029812OMIM:616459Al-Raqad syndrome.5
HP:0002540HP:0002540Inability to walk0DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0002540HP:0002540Inability to walk0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0002540HP:0002540Inability to walk0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0002540HP:0002540Inability to walk0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare22
HP:0002540HP:0002540Inability to walk0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0002540HP:0002540Inability to walk0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0002540HP:0002540Inability to walk0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0002540HP:0002540Inability to walk0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare3
HP:0002540HP:0002540Inability to walk0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0002540HP:0002540Inability to walk0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0002540HP:0002540Inability to walk0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0002540HP:0002540Inability to walk0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0002540HP:0002540Inability to walk0DNAJB6 CL E G H1004914888ORPHA:34516DNAJB6-related limb-girdle muscular dystrophy D1103
HP:0002540HP:0002540Inability to walk0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0002540HP:0002540Inability to walk0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0002540HP:0002540Inability to walk0DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0002540HP:0002540Inability to walk0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31.72
HP:0002540HP:0002540Inability to walk0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent94
HP:0002540HP:0002540Inability to walk0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0002540HP:0002540Inability to walk0DOHH CL E G H8347528662OMIM:620066
HP:0002540HP:0002540Inability to walk0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0002540HP:0002540Inability to walk0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0002540HP:0002540Inability to walk0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0002540HP:0002540Inability to walk0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0002540HP:0002540Inability to walk0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies.1
HP:0002540HP:0002540Inability to walk0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040284 - Very rare600
HP:0002540HP:0002540Inability to walk0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0002540HP:0002540Inability to walk0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B600
HP:0002540HP:0002540Inability to walk0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002540HP:0002540Inability to walk0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0002540HP:0002540Inability to walk0EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked107
HP:0002540HP:0002540Inability to walk0EPM2A CL E G H79573413ORPHA:501Lafora diseaseHP:0040282 - Frequent83
HP:0002540HP:0002540Inability to walk0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0002540HP:0002540Inability to walk0ERBB4 CL E G H20663432OMIM:615515Amyotrophic lateral sclerosis 1915
HP:0002540HP:0002540Inability to walk0ERLIN2 CL E G H111601356ORPHA:209951Autosomal recessive spastic paraplegia type 18HP:0040281 - Very frequent18
HP:0002540HP:0002540Inability to walk0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002540HP:0002540Inability to walk0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0002540HP:0002540Inability to walk0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0002540HP:0002540Inability to walk0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0002540HP:0002540Inability to walk0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0002540HP:0002540Inability to walk0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2.
HP:0002540HP:0002540Inability to walk0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 47.3
HP:0002540HP:0002540Inability to walk0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0002540HP:0002540Inability to walk0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare17
HP:0002540HP:0002540Inability to walk0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0002540HP:0002540Inability to walk0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0002540HP:0002540Inability to walk0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare172
HP:0002540HP:0002540Inability to walk0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0002540HP:0002540Inability to walk0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0002540HP:0002540Inability to walk0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040281 - Very frequent197
HP:0002540HP:0002540Inability to walk0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0002540HP:0002540Inability to walk0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare48
HP:0002540HP:0002540Inability to walk0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0002540HP:0002540Inability to walk0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0002540HP:0002540Inability to walk0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0002540HP:0002540Inability to walk0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0002540HP:0002540Inability to walk0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040283 - Occasional18
HP:0002540HP:0002540Inability to walk0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0002540HP:0002540Inability to walk0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 59.5
HP:0002540HP:0002540Inability to walk0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0002540HP:0002540Inability to walk0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2HP:0040284 - Very rare44
HP:0002540HP:0002540Inability to walk0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0002540HP:0002540Inability to walk0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0002540HP:0002540Inability to walk0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare2
HP:0002540HP:0002540Inability to walk0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0002540HP:0002540Inability to walk0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0002540HP:0002540Inability to walk0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002540HP:0002540Inability to walk0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0002540HP:0002540Inability to walk0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A108
HP:0002540HP:0002540Inability to walk0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities.1
HP:0002540HP:0002540Inability to walk0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0002540HP:0002540Inability to walk0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0002540HP:0002540Inability to walk0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002540HP:0002540Inability to walk0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0002540HP:0002540Inability to walk0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0002540HP:0002540Inability to walk0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0002540HP:0002540Inability to walk0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare173
HP:0002540HP:0002540Inability to walk0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0002540HP:0002540Inability to walk0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0002540HP:0002540Inability to walk0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemia17
HP:0002540HP:0002540Inability to walk0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0002540HP:0002540Inability to walk0GMPPB CL E G H2992522932OMIM:615350MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14.34
HP:0002540HP:0002540Inability to walk0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002540HP:0002540Inability to walk0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0002540HP:0002540Inability to walk0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040282 - Frequent240
HP:0002540HP:0002540Inability to walk0GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 688
HP:0002540HP:0002540Inability to walk0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002540HP:0002540Inability to walk0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0002540HP:0002540Inability to walk0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0002540HP:0002540Inability to walk0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0002540HP:0002540Inability to walk0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002540HP:0002540Inability to walk0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0002540HP:0002540Inability to walk0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0002540HP:0002540Inability to walk0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0002540HP:0002540Inability to walk0GSX2 CL E G H17082524959OMIM:618646DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2; DMJDS2
HP:0002540HP:0002540Inability to walk0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0002540HP:0002540Inability to walk0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizuresHP:0040283 - Occasional10
HP:0002540HP:0002540Inability to walk0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0002540HP:0002540Inability to walk0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0002540HP:0002540Inability to walk0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0002540HP:0002540Inability to walk0HNRNPH1 CL E G H31875041OMIM:620083
HP:0002540HP:0002540Inability to walk0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0002540HP:0002540Inability to walk0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0002540HP:0002540Inability to walk0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0002540HP:0002540Inability to walk0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040283 - Occasional12
HP:0002540HP:0002540Inability to walk0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0002540HP:0002540Inability to walk0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0002540HP:0002540Inability to walk0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0002540HP:0002540Inability to walk0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0002540HP:0002540Inability to walk0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0002540HP:0002540Inability to walk0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040283 - Occasional121
HP:0002540HP:0002540Inability to walk0KCNQ2 CL E G H37856296ORPHA:439218KCNQ2-related epileptic encephalopathyHP:0040282 - Frequent528
HP:0002540HP:0002540Inability to walk0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9HP:0040283 - Occasional276
HP:0002540HP:0002540Inability to walk0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy1
HP:0002540HP:0002540Inability to walk0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0002540HP:0002540Inability to walk0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040281 - Very frequent411
HP:0002540HP:0002540Inability to walk0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0002540HP:0002540Inability to walk0LETM1 CL E G H39546556OMIM:6200892
HP:0002540HP:0002540Inability to walk0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0002540HP:0002540Inability to walk0LMNA CL E G H40006636OMIM:616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive645
HP:0002540HP:0002540Inability to walk0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent165
HP:0002540HP:0002540Inability to walk0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0002540HP:0002540Inability to walk0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional8
HP:0002540HP:0002540Inability to walk0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndrome125
HP:0002540HP:0002540Inability to walk0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0002540HP:0002540Inability to walk0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0002540HP:0002540Inability to walk0LYST CL E G H11301968ORPHA:167Ch├ędiak-Higashi syndromeHP:0040283 - Occasional239
HP:0002540HP:0002540Inability to walk0MAFB CL E G H99356408OMIM:166300Multicentric carpotarsal osteolysis syndrome63
HP:0002540HP:0002540Inability to walk0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0002540HP:0002540Inability to walk0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0002540HP:0002540Inability to walk0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0002540HP:0002540Inability to walk0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0002540HP:0002540Inability to walk0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive25
HP:0002540HP:0002540Inability to walk0MAST1 CL E G H2298319034OMIM:618273Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations.1
HP:0002540HP:0002540Inability to walk0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 57.5
HP:0002540HP:0002540Inability to walk0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0002540HP:0002540Inability to walk0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51.4
HP:0002540HP:0002540Inability to walk0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0002540HP:0002540Inability to walk0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002540HP:0002540Inability to walk0MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040283 - Occasional950
HP:0002540HP:0002540Inability to walk0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0002540HP:0002540Inability to walk0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040281 - Very frequent43
HP:0002540HP:0002540Inability to walk0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0002540HP:0002540Inability to walk0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0002540HP:0002540Inability to walk0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0002540HP:0002540Inability to walk0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive.5
HP:0002540HP:0002540Inability to walk0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0002540HP:0002540Inability to walk0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0002540HP:0002540Inability to walk0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0002540HP:0002540Inability to walk0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0002540HP:0002540Inability to walk0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0002540HP:0002540Inability to walk0MTM1 CL E G H45347448ORPHA:596X-linked centronuclear myopathy185
HP:0002540HP:0002540Inability to walk0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0002540HP:0002540Inability to walk0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0002540HP:0002540Inability to walk0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040282 - Frequent75
HP:0002540HP:0002540Inability to walk0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0002540HP:0002540Inability to walk0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040283 - Occasional82
HP:0002540HP:0002540Inability to walk0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0002540HP:0002540Inability to walk0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0002540HP:0002540Inability to walk0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040283 - Occasional118
HP:0002540HP:0002540Inability to walk0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040284 - Very rare118
HP:0002540HP:0002540Inability to walk0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0002540HP:0002540Inability to walk0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0002540HP:0002540Inability to walk0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0002540HP:0002540Inability to walk0NHLRC1 CL E G H37888421576ORPHA:501Lafora diseaseHP:0040282 - Frequent77
HP:0002540HP:0002540Inability to walk0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0002540HP:0002540Inability to walk0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare45
HP:0002540HP:0002540Inability to walk0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0002540HP:0002540Inability to walk0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0002540HP:0002540Inability to walk0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0002540HP:0002540Inability to walk0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0002540HP:0002540Inability to walk0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0002540HP:0002540Inability to walk0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0002540HP:0002540Inability to walk0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0002540HP:0002540Inability to walk0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0002540HP:0002540Inability to walk0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0002540HP:0002540Inability to walk0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0002540HP:0002540Inability to walk0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies.4
HP:0002540HP:0002540Inability to walk0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002540HP:0002540Inability to walk0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0002540HP:0002540Inability to walk0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040283 - Occasional88
HP:0002540HP:0002540Inability to walk0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0002540HP:0002540Inability to walk0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0002540HP:0002540Inability to walk0PGAP3 CL E G H9321023719OMIM:615716Hyperphosphatasia with mental retardation syndrome 4.20
HP:0002540HP:0002540Inability to walk0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0002540HP:0002540Inability to walk0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 55.2
HP:0002540HP:0002540Inability to walk0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002540HP:0002540Inability to walk0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002540HP:0002540Inability to walk0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0002540HP:0002540Inability to walk0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0002540HP:0002540Inability to walk0PLP1 CL E G H53549086ORPHA:280234Null syndromeHP:0040283 - Occasional60
HP:0002540HP:0002540Inability to walk0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002540HP:0002540Inability to walk0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0002540HP:0002540Inability to walk0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040282 - Frequent60
HP:0002540HP:0002540Inability to walk0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked60
HP:0002540HP:0002540Inability to walk0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040283 - Occasional79
HP:0002540HP:0002540Inability to walk0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent6
HP:0002540HP:0002540Inability to walk0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0002540HP:0002540Inability to walk0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0002540HP:0002540Inability to walk0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0002540HP:0002540Inability to walk0POMT1 CL E G H105859202OMIM:613155MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1.213
HP:0002540HP:0002540Inability to walk0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0002540HP:0002540Inability to walk0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040283 - Occasional221
HP:0002540HP:0002540Inability to walk0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002540HP:0002540Inability to walk0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36HP:0040283 - Occasional13
HP:0002540HP:0002540Inability to walk0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0002540HP:0002540Inability to walk0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002540HP:0002540Inability to walk0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0002540HP:0002540Inability to walk0PSMB1 CL E G H56899537OMIM:6200382
HP:0002540HP:0002540Inability to walk0PSMC1 CL E G H57009547OMIM:6200711
HP:0002540HP:0002540Inability to walk0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0002540HP:0002540Inability to walk0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare665
HP:0002540HP:0002540Inability to walk0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0002540HP:0002540Inability to walk0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0002540HP:0002540Inability to walk0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 3153
HP:0002540HP:0002540Inability to walk0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0002540HP:0002540Inability to walk0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040281 - Very frequent11
HP:0002540HP:0002540Inability to walk0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0002540HP:0002540Inability to walk0REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7
HP:0002540HP:0002540Inability to walk0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0002540HP:0002540Inability to walk0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0002540HP:0002540Inability to walk0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0002540HP:0002540Inability to walk0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy125
HP:0002540HP:0002540Inability to walk0SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0002540HP:0002540Inability to walk0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002540HP:0002540Inability to walk0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0002540HP:0002540Inability to walk0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0002540HP:0002540Inability to walk0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0002540HP:0002540Inability to walk0SCN3A CL E G H632810590OMIM:617938EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE6270
HP:0002540HP:0002540Inability to walk0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0002540HP:0002540Inability to walk0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0002540HP:0002540Inability to walk0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0002540HP:0002540Inability to walk0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0002540HP:0002540Inability to walk0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0002540HP:0002540Inability to walk0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0002540HP:0002540Inability to walk0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0002540HP:0002540Inability to walk0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0002540HP:0002540Inability to walk0SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E113
HP:0002540HP:0002540Inability to walk0SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C83
HP:0002540HP:0002540Inability to walk0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0002540HP:0002540Inability to walk0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0002540HP:0002540Inability to walk0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare67
HP:0002540HP:0002540Inability to walk0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0002540HP:0002540Inability to walk0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0002540HP:0002540Inability to walk0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0002540HP:0002540Inability to walk0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002540HP:0002540Inability to walk0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare32
HP:0002540HP:0002540Inability to walk0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002540HP:0002540Inability to walk0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002540HP:0002540Inability to walk0SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 348
HP:0002540HP:0002540Inability to walk0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0002540HP:0002540Inability to walk0SLC16A2 CL E G H656710923OMIM:300523Allan-Herndon-Dudley syndrome.57
HP:0002540HP:0002540Inability to walk0SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0002540HP:0002540Inability to walk0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002540HP:0002540Inability to walk0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41.3
HP:0002540HP:0002540Inability to walk0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0002540HP:0002540Inability to walk0SLC25A4 CL E G H29110990OMIM:617184Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant.68
HP:0002540HP:0002540Inability to walk0SLC2A1 CL E G H651311005OMIM:608885Stomatin-Deficient cryohydrocytosis with neurologic defects.255
HP:0002540HP:0002540Inability to walk0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040283 - Occasional1
HP:0002540HP:0002540Inability to walk0SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration48
HP:0002540HP:0002540Inability to walk0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040282 - Frequent27
HP:0002540HP:0002540Inability to walk0SLC38A3 CL E G H1099118044OMIM:619881
HP:0002540HP:0002540Inability to walk0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndrome5
HP:0002540HP:0002540Inability to walk0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0002540HP:0002540Inability to walk0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN.11
HP:0002540HP:0002540Inability to walk0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040282 - Frequent11
HP:0002540HP:0002540Inability to walk0SLC6A17 CL E G H38866231399OMIM:616269Mental retardation, autosomal recessive 48.12
HP:0002540HP:0002540Inability to walk0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040283 - Occasional12
HP:0002540HP:0002540Inability to walk0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0002540HP:0002540Inability to walk0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0002540HP:0002540Inability to walk0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0002540HP:0002540Inability to walk0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0002540HP:0002540Inability to walk0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0002540HP:0002540Inability to walk0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A164
HP:0002540HP:0002540Inability to walk0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0002540HP:0002540Inability to walk0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0002540HP:0002540Inability to walk0SPATA5 CL E G H16637818119OMIM:616577Epilepsy, hearing loss, and mental retardation syndrome19
HP:0002540HP:0002540Inability to walk0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0002540HP:0002540Inability to walk0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0002540HP:0002540Inability to walk0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent287
HP:0002540HP:0002540Inability to walk0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional54
HP:0002540HP:0002540Inability to walk0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent54
HP:0002540HP:0002540Inability to walk0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040283 - Occasional149
HP:0002540HP:0002540Inability to walk0ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 15.41
HP:0002540HP:0002540Inability to walk0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040284 - Very rare14
HP:0002540HP:0002540Inability to walk0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002540HP:0002540Inability to walk0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002540HP:0002540Inability to walk0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0002540HP:0002540Inability to walk0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare99
HP:0002540HP:0002540Inability to walk0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0002540HP:0002540Inability to walk0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0002540HP:0002540Inability to walk0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy.6
HP:0002540HP:0002540Inability to walk0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040282 - Frequent237
HP:0002540HP:0002540Inability to walk0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0002540HP:0002540Inability to walk0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0002540HP:0002540Inability to walk0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040281 - Very frequent9
HP:0002540HP:0002540Inability to walk0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0002540HP:0002540Inability to walk0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0002540HP:0002540Inability to walk0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0002540HP:0002540Inability to walk0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0002540HP:0002540Inability to walk0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040282 - Frequent13
HP:0002540HP:0002540Inability to walk0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay.1
HP:0002540HP:0002540Inability to walk0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002540HP:0002540Inability to walk0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare1
HP:0002540HP:0002540Inability to walk0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0002540HP:0002540Inability to walk0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002540HP:0002540Inability to walk0TELO2 CL E G H989429099ORPHA:488642TELO2-related intellectual disability-neurodevelopmental disorderHP:0040282 - Frequent12
HP:0002540HP:0002540Inability to walk0TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 57HP:0040281 - Very frequent18
HP:0002540HP:0002540Inability to walk0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18
HP:0002540HP:0002540Inability to walk0TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive.18
HP:0002540HP:0002540Inability to walk0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002540HP:0002540Inability to walk0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare32
HP:0002540HP:0002540Inability to walk0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002540HP:0002540Inability to walk0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002540HP:0002540Inability to walk0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0002540HP:0002540Inability to walk0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040283 - Occasional15
HP:0002540HP:0002540Inability to walk0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0002540HP:0002540Inability to walk0TMEM107 CL E G H8431428128OMIM:617563Orofaciodigital syndrome XVI.4
HP:0002540HP:0002540Inability to walk0TMEM231 CL E G H7958337234OMIM:614970Joubert syndrome 2033
HP:0002540HP:0002540Inability to walk0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0002540HP:0002540Inability to walk0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002540HP:0002540Inability to walk0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0002540HP:0002540Inability to walk0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0002540HP:0002540Inability to walk0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
HP:0002540HP:0002540Inability to walk0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0002540HP:0002540Inability to walk0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0002540HP:0002540Inability to walk0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0002540HP:0002540Inability to walk0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040282 - Frequent
HP:0002540HP:0002540Inability to walk0TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2FHP:0040283 - Occasional3
HP:0002540HP:0002540Inability to walk0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0002540HP:0002540Inability to walk0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)113
HP:0002540HP:0002540Inability to walk0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0002540HP:0002540Inability to walk0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040282 - Frequent1
HP:0002540HP:0002540Inability to walk0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0002540HP:0002540Inability to walk0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0002540HP:0002540Inability to walk0UQCRQ CL E G H2708929594OMIM:615159Mitochondrial complex III deficiency, nuclear type 4.34
HP:0002540HP:0002540Inability to walk0VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset6
HP:0002540HP:0002540Inability to walk0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0002540HP:0002540Inability to walk0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0002540HP:0002540Inability to walk0VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included116
HP:0002540HP:0002540Inability to walk0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0002540HP:0002540Inability to walk0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0002540HP:0002540Inability to walk0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0002540HP:0002540Inability to walk0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0002540HP:0002540Inability to walk0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040282 - Frequent1
HP:0002540HP:0002540Inability to walk0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0002540HP:0002540Inability to walk0VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0002540HP:0002540Inability to walk0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002540HP:0002540Inability to walk0WDR45B CL E G H5627025072OMIM:617977Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures.1
HP:0002540HP:0002540Inability to walk0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0002540HP:0002540Inability to walk0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040283 - Occasional362
HP:0002540HP:0002540Inability to walk0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040283 - Occasional362
HP:0002540HP:0002540Inability to walk0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0002540HP:0002540Inability to walk0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040284 - Very rare34
HP:0002540HP:0002540Inability to walk0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0002540HP:0002540Inability to walk0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0002540HP:0002540Inability to walk0ZNF526 CL E G H11611529415OMIM:61987724
HP:0002540HP:0002505Loss of ambulation1ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0002540HP:0002505Loss of ambulation1ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0002540HP:0002505Loss of ambulation1ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0002540HP:0002505Loss of ambulation1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0002540HP:0002505Loss of ambulation1ALDH18A1 CL E G H58329722ORPHA:447757Autosomal dominant spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0002540HP:0002505Loss of ambulation1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0002540HP:0002505Loss of ambulation1AP4S1 CL E G H11154575OMIM:614067Spastic paraplegia 52, autosomal recessive18
HP:0002540HP:0002505Loss of ambulation1APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0002540HP:0002505Loss of ambulation1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0002540HP:0002505Loss of ambulation1BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0002540HP:0002505Loss of ambulation1C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0002540HP:0002505Loss of ambulation1C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive114
HP:0002540HP:0002505Loss of ambulation1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0002540HP:0002505Loss of ambulation1CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel88
HP:0002540HP:0002505Loss of ambulation1CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0002540HP:0002505Loss of ambulation1CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002540HP:0002505Loss of ambulation1COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0002540HP:0002505Loss of ambulation1CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8
HP:0002540HP:0002505Loss of ambulation1CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040283 - Occasional
HP:0002540HP:0002505Loss of ambulation1DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0002540HP:0002505Loss of ambulation1DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0002540HP:0002505Loss of ambulation1DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0002540HP:0002505Loss of ambulation1DNAJB6 CL E G H1004914888ORPHA:34516DNAJB6-related limb-girdle muscular dystrophy D1103
HP:0002540HP:0002505Loss of ambulation1DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0002540HP:0002505Loss of ambulation1DNAJC6 CL E G H982915469OMIM:615528Parkinson disease 19a, juvenile-onset6
HP:0002540HP:0002505Loss of ambulation1DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0002540HP:0002505Loss of ambulation1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0002540HP:0002505Loss of ambulation1DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B600
HP:0002540HP:0002505Loss of ambulation1EMD CL E G H20103331OMIM:310300Emery-Dreifuss muscular dystrophy 1, X-linked107
HP:0002540HP:0002505Loss of ambulation1EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0002540HP:0002505Loss of ambulation1ERBB4 CL E G H20663432OMIM:615515Amyotrophic lateral sclerosis 1915
HP:0002540HP:0002505Loss of ambulation1FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040281 - Very frequent76
HP:0002540HP:0002505Loss of ambulation1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040282 - Frequent36
HP:0002540HP:0002505Loss of ambulation1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0002540HP:0002505Loss of ambulation1FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0002540HP:0002505Loss of ambulation1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0002540HP:0002505Loss of ambulation1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0002540HP:0002505Loss of ambulation1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0002540HP:0006915Inability to walk by childhood/adolescence1GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A.108
HP:0002540HP:0002505Loss of ambulation1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0002540HP:0002505Loss of ambulation1GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0002540HP:0002505Loss of ambulation1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0002540HP:0002505Loss of ambulation1GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemia17
HP:0002540HP:0002505Loss of ambulation1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0002540HP:0002505Loss of ambulation1GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 688
HP:0002540HP:0002505Loss of ambulation1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0002540HP:0002505Loss of ambulation1HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040283 - Occasional11
HP:0002540HP:0002505Loss of ambulation1HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0002540HP:0002505Loss of ambulation1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0002540HP:0002505Loss of ambulation1HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0002540HP:0002505Loss of ambulation1IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0002540HP:0002505Loss of ambulation1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0002540HP:0002505Loss of ambulation1KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0002540HP:0002505Loss of ambulation1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0002540HP:0002505Loss of ambulation1LETM1 CL E G H39546556OMIM:6200892
HP:0002540HP:0002505Loss of ambulation1LMNA CL E G H40006636OMIM:616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive645
HP:0002540HP:0002505Loss of ambulation1LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndrome125
HP:0002540HP:0002505Loss of ambulation1LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0002540HP:0002505Loss of ambulation1MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive4
HP:0002540HP:0002505Loss of ambulation1MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0002540HP:0002505Loss of ambulation1MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive25
HP:0002540HP:0002505Loss of ambulation1MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0002540HP:0002505Loss of ambulation1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0002540HP:0002505Loss of ambulation1MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0002540HP:0006915Inability to walk by childhood/adolescence1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0002540HP:0002505Loss of ambulation1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0002540HP:0002505Loss of ambulation1MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0002540HP:0002505Loss of ambulation1MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0002540HP:0002505Loss of ambulation1NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0002540HP:0002505Loss of ambulation1NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 243
HP:0002540HP:0002505Loss of ambulation1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0002540HP:0002505Loss of ambulation1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndrome1
HP:0002540HP:0002505Loss of ambulation1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0002540HP:0002505Loss of ambulation1OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0002540HP:0002505Loss of ambulation1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0002540HP:0002505Loss of ambulation1PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0002540HP:0002505Loss of ambulation1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002540HP:0002505Loss of ambulation1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0002540HP:0002505Loss of ambulation1PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked60
HP:0002540HP:0002505Loss of ambulation1POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0002540HP:0002505Loss of ambulation1POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0002540HP:0002505Loss of ambulation1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0002540HP:0002505Loss of ambulation1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0002540HP:0002505Loss of ambulation1PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0002540HP:0002505Loss of ambulation1REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7
HP:0002540HP:0002505Loss of ambulation1RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0002540HP:0002505Loss of ambulation1RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy125
HP:0002540HP:0002505Loss of ambulation1SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0002540HP:0002505Loss of ambulation1SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0002540HP:0002505Loss of ambulation1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0002540HP:0002505Loss of ambulation1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0002540HP:0002505Loss of ambulation1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0002540HP:0002505Loss of ambulation1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0002540HP:0002505Loss of ambulation1SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0002540HP:0002505Loss of ambulation1SGCB CL E G H644310806OMIM:604286Muscular dystrophy, limb-girdle, type 2E113
HP:0002540HP:0002505Loss of ambulation1SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C83
HP:0002540HP:0002505Loss of ambulation1SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0002540HP:0002505Loss of ambulation1SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0002540HP:0002505Loss of ambulation1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndrome135
HP:0002540HP:0002505Loss of ambulation1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0002540HP:0002505Loss of ambulation1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0002540HP:0002505Loss of ambulation1SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)66
HP:0002540HP:0002505Loss of ambulation1TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive18
HP:0002540HP:0002505Loss of ambulation1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0002540HP:0002505Loss of ambulation1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0002540HP:0002505Loss of ambulation1TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0002540HP:0002505Loss of ambulation1TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)113
HP:0002540HP:0002505Loss of ambulation1UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive21
HP:0002540HP:0002505Loss of ambulation1VAC14 CL E G H5569725507OMIM:617054Striatonigral degeneration, childhood-onset6
HP:0002540HP:0002505Loss of ambulation1VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0002540HP:0002505Loss of ambulation1VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included116
HP:0002540HP:0002505Loss of ambulation1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0002540HP:0002505Loss of ambulation1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0002540HP:0002505Loss of ambulation1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0002540HP:0008945Loss of ability to walk in early childhood2GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0002540HP:0006794Loss of ability to walk in first decade2MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040282 - Frequent75
HP:0002540HP:0006794Loss of ability to walk in first decade2SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0002540HP:0008945Loss of ability to walk in early childhood2SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0002540HP:0008945Loss of ability to walk in early childhood2TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103


Genes (336) :ABCD1 ABHD16A ACTB ACTL6B ADAM22 ADAR ADSL ADSS1 AGTPBP1 AIMP2 ALDH18A1 ALS2 AP4B1 AP4S1 APTX ARL6IP1 ASAH1 ASPA ASXL1 ASXL3 ATAD3A ATL1 ATL3 ATM ATN1 ATP6 ATP6AP2 ATP6V1A ATP8A2 BCAS3 BVES C19ORF12 CACNA1B CACNA1E CACNA1G CACNA2D2 CAMK2A CAMK2B CDKL5 CDON CELF2 CHCHD10 CHKA CHRND CLDN11 CLIC2 CLN3 CLN5 CLN8 CLTC CNPY3 COPB1 COPB2 COQ2 CPLX1 CRAT CRPPA CTBP1 CTNNA2 DARS2 DCPS DES DHX30 DISP1 DLL1 DMD DNAJB6 DNAJC6 DNM1 DNM1L DOCK7 DOHH DPAGT1 DPYD DSTYK DYM DYNC1I2 DYSF EIF2AK2 EIF2S3 EMD EPM2A EPRS1 ERBB4 ERLIN2 EXOSC5 EXTL3 FA2H FAR1 FARS2 FCSK FGF12 FGF8 FGFR1 FKRP FLNC FOXH1 FOXRED1 FUS FXN GABBR2 GABRA2 GABRB2 GALC GAS1 GDAP1 GEMIN4 GEMIN5 GFM2 GGPS1 GIPC1 GLE1 GLI2 GLRX5 GMPPB GNB1 GNPTAB GOSR2 GOT2 GPAA1 GRIA2 GRIA4 GRIK2 GRIN1 GRM1 GSX2 GTPBP2 HACE1 HINT1 HK1 HNRNPA1 HNRNPH1 HNRNPK HSD17B10 HTT HYCC1 INTS1 INTS8 IRF2BPL JAG2 KCNJ10 KCNQ2 KIF1A KLC2 KLHL9 LAMA2 LARGE1 LETM1 LMNA LMX1B LNPK LONP1 LRP5 LRPPRC LYRM7 LYST MAFB MAG MAGEL2 MAPK8IP3 MAPT MARS2 MAST1 MBOAT7 MCM3AP MDH2 MECP2 MECR MED25 MEF2C MFF MFN2 MFSD2A MORC2 MPV17 MPZ MRPS34 MSTO1 MTM1 MTRFR MYH7 MYOT NDRG1 NDUFA6 NEB NEFL NEU1 NEUROD2 NGLY1 NHLRC1 NODAL NOTCH2NLC NTNG1 NTNG2 NTRK2 NUP62 OGDHL OPTN OTUD6B P4HTM PANK2 PDHA1 PEX1 PEX16 PGAP3 PIEZO2 PIGP PIGS PLA2G6 PLCH1 PLEC PLP1 PMP22 PODXL POLR3A POLR3B POMT1 POMT2 PPP1R21 PPP2R1A PRUNE1 PRX PSMB1 PSMC1 PTCH1 PURA PYCR2 RAB18 REPS1 RHOBTB2 RNASEH1 RPL10 RRM2B SAMD9L SATB1 SBF1 SBF2 SCN1A SCN3A SDHA SDHAF1 SDHB SDHD SEC31A SELENOI SELENON SERAC1 SGCB SGCG SH3TC2 SHH SIGMAR1 SIX3 SLC12A5 SLC12A6 SLC16A2 SLC17A5 SLC19A3 SLC1A2 SLC1A4 SLC25A4 SLC2A1 SLC2A3 SLC33A1 SLC35A2 SLC38A3 SLC39A14 SLC39A8 SLC6A17 SLC9A6 SMC1A SMN1 SMN2 SMPD1 SMS SNX14 SPATA5 SPG11 SPTLC1 SPTLC2 ST3GAL3 STAC3 STAG2 STIL STRADA STXBP1 SUCLA2 SYNE1 SYNJ1 SYT1 TBC1D20 TBC1D23 TBCD TBCK TBR1 TDGF1 TELO2 TFG TGIF1 TGM6 TIMM8A TK2 TMEM107 TMEM231 TNPO2 TNR TOR1A TRAPPC11 TRAPPC2L TREX1 TRIM2 TRIM32 TRNE TSEN15 TUBB3 TWNK UBE4A UBTF UCHL1 UNC80 UQCRQ VAC14 VAMP2 VAPB VARS1 VCP VPS13A VPS16 VPS33A VPS41 VPS51 WDR45B ZC4H2 ZEB2 ZIC2 ZNF526

Diseases (336) :ORPHA:139396 OMIM:619735 OMIM:607371 OMIM:618468 OMIM:618470 OMIM:617933 OMIM:615010 ORPHA:225154 OMIM:103050 ORPHA:482601 OMIM:618276 OMIM:618006 ORPHA:447757 ORPHA:300605 OMIM:606353 OMIM:614066 OMIM:614067 OMIM:208920 OMIM:615685 ORPHA:2590 ORPHA:314911 ORPHA:97297 ORPHA:352577 OMIM:615485 OMIM:617183 ORPHA:36386 OMIM:208900 OMIM:618494 ORPHA:93952 OMIM:618012 OMIM:615268 OMIM:619641 OMIM:616812 OMIM:614298 OMIM:615043 OMIM:618497 OMIM:618285 OMIM:618087 OMIM:618501 OMIM:618095 OMIM:617799 ORPHA:3095 OMIM:300672 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 OMIM:619561 ORPHA:276435 OMIM:620023 OMIM:616321 OMIM:619328 ORPHA:324410 OMIM:204200 ORPHA:228346 ORPHA:228360 ORPHA:1947 OMIM:617854 OMIM:617929 OMIM:619255 OMIM:619884 OMIM:607426 OMIM:617976 OMIM:617917 ORPHA:352479 OMIM:617915 OMIM:618174 ORPHA:137898 OMIM:616459 ORPHA:98909 OMIM:617804 OMIM:310200 ORPHA:206546 ORPHA:34516 OMIM:603511 ORPHA:391411 OMIM:615528 OMIM:616346 ORPHA:330050 ORPHA:411986 OMIM:620066 ORPHA:86309 ORPHA:1675 OMIM:270750 ORPHA:239 OMIM:618492 ORPHA:268 ORPHA:45448 OMIM:253601 OMIM:618877 OMIM:300148 OMIM:310300 ORPHA:501 OMIM:617951 OMIM:615515 ORPHA:209951 OMIM:619576 ORPHA:508533 ORPHA:329308 ORPHA:438178 ORPHA:466722 OMIM:618324 OMIM:617166 ORPHA:370968 ORPHA:63273 OMIM:618241 ORPHA:95 OMIM:617904 OMIM:618557 OMIM:617829 ORPHA:206443 ORPHA:101097 ORPHA:99948 OMIM:214400 OMIM:617913 OMIM:619333 ORPHA:565624 OMIM:619518 ORPHA:98897 OMIM:611890 ORPHA:401866 OMIM:615350 ORPHA:488613 OMIM:616973 ORPHA:576 OMIM:614018 OMIM:618721 OMIM:617810 OMIM:618917 OMIM:617864 OMIM:619580 OMIM:614254 OMIM:617820 OMIM:614831 OMIM:618646 OMIM:617988 OMIM:616756 ORPHA:324442 ORPHA:99953 OMIM:615424 OMIM:620083 ORPHA:352665 ORPHA:453504 ORPHA:391428 ORPHA:399 OMIM:610532 OMIM:618571 OMIM:618572 OMIM:618088 OMIM:619566 ORPHA:199343 ORPHA:439218 OMIM:614255 OMIM:609541 ORPHA:399081 ORPHA:258 OMIM:620089 ORPHA:98856 OMIM:616516 ORPHA:495818 OMIM:618090 ORPHA:79243 ORPHA:2788 ORPHA:70472 OMIM:615838 ORPHA:167 OMIM:166300 OMIM:616680 OMIM:615547 OMIM:618443 ORPHA:240094 OMIM:611390 OMIM:618273 OMIM:617188 OMIM:618124 OMIM:617339 OMIM:300260 ORPHA:778 OMIM:617282 ORPHA:464738 OMIM:613443 OMIM:617086 ORPHA:99947 OMIM:616486 ORPHA:466768 OMIM:256810 OMIM:618184 OMIM:617664 OMIM:617675 ORPHA:596 ORPHA:254930 OMIM:255160 ORPHA:266 ORPHA:98911 ORPHA:99950 OMIM:618253 OMIM:256030 ORPHA:99939 ORPHA:101085 ORPHA:93399 OMIM:618374 ORPHA:404454 OMIM:618718 OMIM:617830 OMIM:619701 OMIM:613435 ORPHA:505237 OMIM:617452 OMIM:618493 ORPHA:216866 OMIM:214100 OMIM:614877 OMIM:615716 OMIM:617146 OMIM:617599 OMIM:618143 OMIM:612953 ORPHA:254361 ORPHA:280234 OMIM:312080 ORPHA:280229 ORPHA:280210 OMIM:312920 ORPHA:90658 OMIM:607694 OMIM:613155 ORPHA:206559 OMIM:619383 OMIM:616362 OMIM:617481 ORPHA:544469 OMIM:614895 OMIM:620038 OMIM:620071 OMIM:616158 OMIM:616420 ORPHA:481152 OMIM:614222 OMIM:617916 OMIM:618004 ORPHA:329336 ORPHA:459070 OMIM:619806 OMIM:619229 OMIM:615284 ORPHA:99956 OMIM:619317 OMIM:617938 ORPHA:3208 OMIM:618651 OMIM:618768 OMIM:602771 OMIM:614739 OMIM:604286 OMIM:253700 ORPHA:99949 OMIM:616645 OMIM:218000 OMIM:300523 OMIM:604369 OMIM:607483 OMIM:617105 OMIM:616657 OMIM:617184 OMIM:608885 OMIM:614482 ORPHA:356961 OMIM:619881 ORPHA:521406 OMIM:617013 OMIM:616721 ORPHA:468699 OMIM:616269 ORPHA:457212 OMIM:300243 OMIM:253400 OMIM:257200 ORPHA:3063 OMIM:616354 OMIM:616577 ORPHA:457351 ORPHA:2822 OMIM:615006 ORPHA:168572 OMIM:611087 OMIM:612073 ORPHA:319332 OMIM:618218 OMIM:615663 OMIM:617695 OMIM:617193 ORPHA:488632 OMIM:606053 ORPHA:488642 ORPHA:431329 ORPHA:90117 OMIM:615658 OMIM:613908 ORPHA:52368 OMIM:609560 OMIM:617563 OMIM:614970 OMIM:619556 OMIM:619653 OMIM:128100 OMIM:615356 OMIM:618331 OMIM:225750 OMIM:615490 OMIM:254110 ORPHA:2596 OMIM:617026 ORPHA:300570 OMIM:271245 OMIM:619639 ORPHA:500180 OMIM:615491 OMIM:616801 OMIM:615159 OMIM:617054 OMIM:618760 OMIM:608627 OMIM:182980 OMIM:617802 OMIM:167320 ORPHA:2388 OMIM:619291 ORPHA:505248 OMIM:617303 OMIM:619389 OMIM:618606 OMIM:617977 OMIM:301041 ORPHA:261552 ORPHA:261537 OMIM:619877
 

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