Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormal muscle physiology (HP:0011804)help
..Starting node
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Functional motor deficit (HP:0004302)help
Term ID: 4302
Name: Functional motor deficit
Synonym: Functional motor problems
Definition:
Comments:
Reference: HP:0004302
Genes and Diseases:
 
       Child Nodes:
........expandDifficulty walking (HP:0002355) help
........expandFrequent falls (HP:0002359) help
........expandEasy fatigability (HP:0003388) help
........expandExercise intolerance (HP:0003546) help
........expandDifficulty climbing stairs (HP:0003551) help
........expandDifficulty standing (HP:0003698) help
........expandDifficulty running (HP:0009046) help

 Sister Nodes: 
..expandAbnormal muscle tone (HP:0003808) help
..expandEMG abnormality (HP:0003457) help
..expandIncreased muscle fatiguability (HP:0003750) help
..expandMuscle hyperirritability (HP:0003559) help
..expandMuscle spasm (HP:0003394) help
..expandMuscle stiffness (HP:0003552) help
..expandMuscle weakness (HP:0001324) help
..expandMyotonia (HP:0002486) help
..expandTetany (HP:0001281) 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:0004302HP:0004302Functional motor deficit0AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0004302HP:0004302Functional motor deficit0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0004302HP:0004302Functional motor deficit0ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0004302HP:0004302Functional motor deficit0ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040283 - Occasional135
HP:0004302HP:0004302Functional motor deficit0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040282 - Frequent135
HP:0004302HP:0004302Functional motor deficit0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0004302HP:0004302Functional motor deficit0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0004302HP:0004302Functional motor deficit0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0004302HP:0004302Functional motor deficit0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0004302HP:0004302Functional motor deficit0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathy96
HP:0004302HP:0004302Functional motor deficit0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 396
HP:0004302HP:0004302Functional motor deficit0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0004302HP:0004302Functional motor deficit0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0004302HP:0004302Functional motor deficit0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0004302HP:0004302Functional motor deficit0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0004302HP:0004302Functional motor deficit0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0004302HP:0004302Functional motor deficit0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymia25
HP:0004302HP:0004302Functional motor deficit0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0004302HP:0004302Functional motor deficit0AGK CL E G H5575021869OMIM:212350Sengers syndrome82
HP:0004302HP:0004302Functional motor deficit0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8127
HP:0004302HP:0004302Functional motor deficit0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0004302HP:0004302Functional motor deficit0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0004302HP:0004302Functional motor deficit0AIP CL E G H9049358ORPHA:2965Prolactinoma95
HP:0004302HP:0004302Functional motor deficit0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0004302HP:0004302Functional motor deficit0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0004302HP:0004302Functional motor deficit0AKT3 CL E G H10000393ORPHA:99802HemimegalencephalyHP:0040283 - Occasional19
HP:0004302HP:0004302Functional motor deficit0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0004302HP:0004302Functional motor deficit0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0004302HP:0004302Functional motor deficit0ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0004302HP:0004302Functional motor deficit0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0004302HP:0004302Functional motor deficit0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004302HP:0004302Functional motor deficit0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0004302HP:0004302Functional motor deficit0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0004302HP:0004302Functional motor deficit0ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3304
HP:0004302HP:0004302Functional motor deficit0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0004302HP:0004302Functional motor deficit0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathy7
HP:0004302HP:0004302Functional motor deficit0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0004302HP:0004302Functional motor deficit0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0004302HP:0004302Functional motor deficit0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0004302HP:0004302Functional motor deficit0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0004302HP:0004302Functional motor deficit0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0004302HP:0004302Functional motor deficit0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0004302HP:0004302Functional motor deficit0ARL6IP1 CL E G H23204697ORPHA:401780Autosomal recessive spastic paraplegia type 611
HP:0004302HP:0004302Functional motor deficit0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0004302HP:0004302Functional motor deficit0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0004302HP:0004302Functional motor deficit0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0004302HP:0004302Functional motor deficit0ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 661
HP:0004302HP:0004302Functional motor deficit0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0004302HP:0004302Functional motor deficit0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy78
HP:0004302HP:0004302Functional motor deficit0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040281 - Very frequent78
HP:0004302HP:0004302Functional motor deficit0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040281 - Very frequent48
HP:0004302HP:0004302Functional motor deficit0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0004302HP:0004302Functional motor deficit0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78100
HP:0004302HP:0004302Functional motor deficit0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0004302HP:0004302Functional motor deficit0ATP13A3 CL E G H7957224113OMIM:265400Pulmonary hypertension, primary, autosomal recessive
HP:0004302HP:0004302Functional motor deficit0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathy239
HP:0004302HP:0004302Functional motor deficit0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathy150
HP:0004302HP:0004302Functional motor deficit0ATP2A1 CL E G H487811OMIM:601003BRODY MYOPATHY80
HP:0004302HP:0004302Functional motor deficit0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 119
HP:0004302HP:0004302Functional motor deficit0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0004302HP:0004302Functional motor deficit0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0004302HP:0004302Functional motor deficit0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0004302HP:0004302Functional motor deficit0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegia
HP:0004302HP:0004302Functional motor deficit0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0004302HP:0004302Functional motor deficit0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0004302HP:0004302Functional motor deficit0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0004302HP:0004302Functional motor deficit0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive25
HP:0004302HP:0004302Functional motor deficit0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6204
HP:0004302HP:0004302Functional motor deficit0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0004302HP:0004302Functional motor deficit0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy46
HP:0004302HP:0004302Functional motor deficit0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0004302HP:0004302Functional motor deficit0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0004302HP:0004302Functional motor deficit0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0004302HP:0004302Functional motor deficit0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040282 - Frequent8
HP:0004302HP:0004302Functional motor deficit0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0004302HP:0004302Functional motor deficit0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0004302HP:0004302Functional motor deficit0C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43114
HP:0004302HP:0004302Functional motor deficit0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegeneration114
HP:0004302HP:0004302Functional motor deficit0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathy449
HP:0004302HP:0004302Functional motor deficit0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0004302HP:0004302Functional motor deficit0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathy59
HP:0004302HP:0004302Functional motor deficit0CALR CL E G H8111455ORPHA:824Primary myelofibrosis1
HP:0004302HP:0004302Functional motor deficit0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0004302HP:0004302Functional motor deficit0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1323
HP:0004302HP:0004302Functional motor deficit0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0004302HP:0004302Functional motor deficit0CASQ1 CL E G H8441512OMIM:616231Myopathy, vacuolar, with CASQ1 aggregates5
HP:0004302HP:0004302Functional motor deficit0CCDC78 CL E G H12409314153OMIM:614807Myopathy, centronuclear, 425
HP:0004302HP:0004302Functional motor deficit0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0004302HP:0004302Functional motor deficit0CCN6 CL E G H883812771OMIM:208230Arthropathy, progressive pseudorheumatoid, of childhood
HP:0004302HP:0004302Functional motor deficit0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhood
HP:0004302HP:0004302Functional motor deficit0CDH23 CL E G H6407213733ORPHA:2965Prolactinoma636
HP:0004302HP:0004302Functional motor deficit0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0004302HP:0004302Functional motor deficit0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0004302HP:0004302Functional motor deficit0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0004302HP:0004302Functional motor deficit0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0004302HP:0004302Functional motor deficit0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0004302HP:0004302Functional motor deficit0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0004302HP:0004302Functional motor deficit0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0004302HP:0004302Functional motor deficit0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0004302HP:0004302Functional motor deficit0CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type11
HP:0004302HP:0004302Functional motor deficit0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive
HP:0004302HP:0004302Functional motor deficit0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0004302HP:0004302Functional motor deficit0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0004302HP:0004302Functional motor deficit0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0004302HP:0004302Functional motor deficit0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0004302HP:0004302Functional motor deficit0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel88
HP:0004302HP:0004302Functional motor deficit0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel88
HP:0004302HP:0004302Functional motor deficit0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0004302HP:0004302Functional motor deficit0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel139
HP:0004302HP:0004302Functional motor deficit0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel139
HP:0004302HP:0004302Functional motor deficit0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0004302HP:0004302Functional motor deficit0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0004302HP:0004302Functional motor deficit0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 type16
HP:0004302HP:0004302Functional motor deficit0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish type111
HP:0004302HP:0004302Functional motor deficit0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0004302HP:0004302Functional motor deficit0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathy18
HP:0004302HP:0004302Functional motor deficit0COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegeneration16
HP:0004302HP:0004302Functional motor deficit0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0004302HP:0004302Functional motor deficit0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0004302HP:0004302Functional motor deficit0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0004302HP:0004302Functional motor deficit0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0004302HP:0004302Functional motor deficit0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0004302HP:0004302Functional motor deficit0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0004302HP:0004302Functional motor deficit0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0004302HP:0004302Functional motor deficit0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0004302HP:0004302Functional motor deficit0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0004302HP:0004302Functional motor deficit0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0004302HP:0004302Functional motor deficit0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0004302HP:0004302Functional motor deficit0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 590
HP:0004302HP:0004302Functional motor deficit0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0004302HP:0004302Functional motor deficit0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0004302HP:0004302Functional motor deficit0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0004302HP:0004302Functional motor deficit0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0004302HP:0004302Functional motor deficit0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0004302HP:0004302Functional motor deficit0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0004302HP:0004302Functional motor deficit0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0004302HP:0004302Functional motor deficit0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0004302HP:0004302Functional motor deficit0CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant1
HP:0004302HP:0004302Functional motor deficit0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disability
HP:0004302HP:0004302Functional motor deficit0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0004302HP:0004302Functional motor deficit0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0004302HP:0004302Functional motor deficit0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency9
HP:0004302HP:0004302Functional motor deficit0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0004302HP:0004302Functional motor deficit0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0004302HP:0004302Functional motor deficit0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0004302HP:0004302Functional motor deficit0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent rickets41
HP:0004302HP:0004302Functional motor deficit0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A41
HP:0004302HP:0004302Functional motor deficit0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent rickets5
HP:0004302HP:0004302Functional motor deficit0CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B5
HP:0004302HP:0004302Functional motor deficit0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 374
HP:0004302HP:0004302Functional motor deficit0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16108
HP:0004302HP:0004302Functional motor deficit0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9108
HP:0004302HP:0004302Functional motor deficit0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0004302HP:0004302Functional motor deficit0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0004302HP:0004302Functional motor deficit0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movements36
HP:0004302HP:0004302Functional motor deficit0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive35
HP:0004302HP:0004302Functional motor deficit0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004302HP:0004302Functional motor deficit0DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0004302HP:0004302Functional motor deficit0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathy47
HP:0004302HP:0004302Functional motor deficit0DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q12
HP:0004302HP:0004302Functional motor deficit0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040283 - Occasional82
HP:0004302HP:0004302Functional motor deficit0DMD CL E G H17562928ORPHA:98895Becker muscular dystrophy1496
HP:0004302HP:0004302Functional motor deficit0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0004302HP:0004302Functional motor deficit0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0004302HP:0004302Functional motor deficit0DNAJB6 CL E G H1004914888ORPHA:34516DNAJB6-related limb-girdle muscular dystrophy D1103
HP:0004302HP:0004302Functional motor deficit0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0004302HP:0004302Functional motor deficit0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0004302HP:0004302Functional motor deficit0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movements2
HP:0004302HP:0004302Functional motor deficit0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 3172
HP:0004302HP:0004302Functional motor deficit0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathy72
HP:0004302HP:0004302Functional motor deficit0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect94
HP:0004302HP:0004302Functional motor deficit0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0004302HP:0004302Functional motor deficit0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0004302HP:0004302Functional motor deficit0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0004302HP:0004302Functional motor deficit0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0004302HP:0004302Functional motor deficit0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0004302HP:0004302Functional motor deficit0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0004302HP:0004302Functional motor deficit0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O427
HP:0004302HP:0004302Functional motor deficit0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant427
HP:0004302HP:0004302Functional motor deficit0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0004302HP:0004302Functional motor deficit0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1600
HP:0004302HP:0004302Functional motor deficit0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0004302HP:0004302Functional motor deficit0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B600
HP:0004302HP:0004302Functional motor deficit0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathy60
HP:0004302HP:0004302Functional motor deficit0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndrome65
HP:0004302HP:0004302Functional motor deficit0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0004302HP:0004302Functional motor deficit0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0004302HP:0004302Functional motor deficit0ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 384
HP:0004302HP:0004302Functional motor deficit0EPHB4 CL E G H20503395ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare3
HP:0004302HP:0004302Functional motor deficit0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0004302HP:0004302Functional motor deficit0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0004302HP:0004302Functional motor deficit0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0004302HP:0004302Functional motor deficit0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0004302HP:0004302Functional motor deficit0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0004302HP:0004302Functional motor deficit0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0004302HP:0004302Functional motor deficit0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0004302HP:0004302Functional motor deficit0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0004302HP:0004302Functional motor deficit0ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 622
HP:0004302HP:0004302Functional motor deficit0ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0004302HP:0004302Functional motor deficit0EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040282 - Frequent96
HP:0004302HP:0004302Functional motor deficit0EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040282 - Frequent102
HP:0004302HP:0004302Functional motor deficit0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0004302HP:0004302Functional motor deficit0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive76
HP:0004302HP:0004302Functional motor deficit0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiency7
HP:0004302HP:0004302Functional motor deficit0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0004302HP:0004302Functional motor deficit0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0004302HP:0004302Functional motor deficit0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0004302HP:0004302Functional motor deficit0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0004302HP:0004302Functional motor deficit0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0004302HP:0004302Functional motor deficit0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset68
HP:0004302HP:0004302Functional motor deficit0FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome68
HP:0004302HP:0004302Functional motor deficit0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J111
HP:0004302HP:0004302Functional motor deficit0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency13
HP:0004302HP:0004302Functional motor deficit0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disability157
HP:0004302HP:0004302Functional motor deficit0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9157
HP:0004302HP:0004302Functional motor deficit0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0004302HP:0004302Functional motor deficit0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5157
HP:0004302HP:0004302Functional motor deficit0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disability184
HP:0004302HP:0004302Functional motor deficit0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0004302HP:0004302Functional motor deficit0FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant197
HP:0004302HP:0004302Functional motor deficit0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0004302HP:0004302Functional motor deficit0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0004302HP:0004302Functional motor deficit0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0004302HP:0004302Functional motor deficit0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0004302HP:0004302Functional motor deficit0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0004302HP:0004302Functional motor deficit0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0004302HP:0004302Functional motor deficit0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0004302HP:0004302Functional motor deficit0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0004302HP:0004302Functional motor deficit0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathy4
HP:0004302HP:0004302Functional motor deficit0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0004302HP:0004302Functional motor deficit0GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 244
HP:0004302HP:0004302Functional motor deficit0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathy44
HP:0004302HP:0004302Functional motor deficit0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathy139
HP:0004302HP:0004302Functional motor deficit0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0004302HP:0004302Functional motor deficit0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent160
HP:0004302HP:0004302Functional motor deficit0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0004302HP:0004302Functional motor deficit0GAN CL E G H81394137ORPHA:643Giant axonal neuropathy121
HP:0004302HP:0004302Functional motor deficit0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0004302HP:0004302Functional motor deficit0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0004302HP:0004302Functional motor deficit0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0004302HP:0004302Functional motor deficit0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0004302HP:0004302Functional motor deficit0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0004302HP:0004302Functional motor deficit0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27
HP:0004302HP:0004302Functional motor deficit0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0004302HP:0004302Functional motor deficit0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0004302HP:0004302Functional motor deficit0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1128
HP:0004302HP:0004302Functional motor deficit0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0004302HP:0004302Functional motor deficit0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0004302HP:0004302Functional motor deficit0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0004302HP:0004302Functional motor deficit0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0004302HP:0004302Functional motor deficit0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 4437
HP:0004302HP:0004302Functional motor deficit0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0004302HP:0004302Functional motor deficit0GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 163
HP:0004302HP:0004302Functional motor deficit0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0004302HP:0004302Functional motor deficit0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R1934
HP:0004302HP:0004302Functional motor deficit0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0004302HP:0004302Functional motor deficit0GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 688
HP:0004302HP:0004302Functional motor deficit0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0004302HP:0004302Functional motor deficit0GPHN CL E G H1024315465OMIM:149400Hyperekplexia 118
HP:0004302HP:0004302Functional motor deficit0GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome4
HP:0004302HP:0004302Functional motor deficit0GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyHP:0040282 - Frequent18
HP:0004302HP:0004302Functional motor deficit0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndrome434
HP:0004302HP:0004302Functional motor deficit0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0004302HP:0004302Functional motor deficit0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040282 - Frequent8
HP:0004302HP:0004302Functional motor deficit0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0004302HP:0004302Functional motor deficit0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 2330
HP:0004302HP:0004302Functional motor deficit0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0004302HP:0004302Functional motor deficit0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0004302HP:0004302Functional motor deficit0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndrome10
HP:0004302HP:0004302Functional motor deficit0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0004302HP:0004302Functional motor deficit0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0004302HP:0004302Functional motor deficit0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0004302HP:0004302Functional motor deficit0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathy54
HP:0004302HP:0004302Functional motor deficit0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0004302HP:0004302Functional motor deficit0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0004302HP:0004302Functional motor deficit0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0004302HP:0004302Functional motor deficit0HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type11
HP:0004302HP:0004302Functional motor deficit0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0004302HP:0004302Functional motor deficit0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0004302HP:0004302Functional motor deficit0HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 type4
HP:0004302HP:0004302Functional motor deficit0HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB47
HP:0004302HP:0004302Functional motor deficit0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0004302HP:0004302Functional motor deficit0HTT CL E G H30644851ORPHA:399Huntington disease12
HP:0004302HP:0004302Functional motor deficit0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0004302HP:0004302Functional motor deficit0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0004302HP:0004302Functional motor deficit0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0004302HP:0004302Functional motor deficit0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0004302HP:0004302Functional motor deficit0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0004302HP:0004302Functional motor deficit0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosis57
HP:0004302HP:0004302Functional motor deficit0JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 2HP:0040283 - Occasional2
HP:0004302HP:0004302Functional motor deficit0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0004302HP:0004302Functional motor deficit0KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 680
HP:0004302HP:0004302Functional motor deficit0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0004302HP:0004302Functional motor deficit0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathy65
HP:0004302HP:0004302Functional motor deficit0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0004302HP:0004302Functional motor deficit0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/2235
HP:0004302HP:0004302Functional motor deficit0KCNJ10 CL E G H37666256ORPHA:199343EAST syndrome121
HP:0004302HP:0004302Functional motor deficit0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0004302HP:0004302Functional motor deficit0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive38
HP:0004302HP:0004302Functional motor deficit0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome1
HP:0004302HP:0004302Functional motor deficit0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0004302HP:0004302Functional motor deficit0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathy13
HP:0004302HP:0004302Functional motor deficit0KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathy3
HP:0004302HP:0004302Functional motor deficit0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37
HP:0004302HP:0004302Functional motor deficit0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0004302HP:0004302Functional motor deficit0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0004302HP:0004302Functional motor deficit0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0004302HP:0004302Functional motor deficit0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0004302HP:0004302Functional motor deficit0LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency35
HP:0004302HP:0004302Functional motor deficit0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy1
HP:0004302HP:0004302Functional motor deficit0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0004302HP:0004302Functional motor deficit0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0004302HP:0004302Functional motor deficit0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0004302HP:0004302Functional motor deficit0LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0004302HP:0004302Functional motor deficit0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0004302HP:0004302Functional motor deficit0LRP4 CL E G H40386696OMIM:616304Myasthenic syndrome, congenital, 17124
HP:0004302HP:0004302Functional motor deficit0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0004302HP:0004302Functional motor deficit0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0004302HP:0004302Functional motor deficit0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0004302HP:0004302Functional motor deficit0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0004302HP:0004302Functional motor deficit0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0004302HP:0004302Functional motor deficit0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion2
HP:0004302HP:0004302Functional motor deficit0MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndrome140
HP:0004302HP:0004302Functional motor deficit0MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3
HP:0004302HP:0004302Functional motor deficit0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0004302HP:0004302Functional motor deficit0MATN3 CL E G H41486909ORPHA:93311Multiple epiphyseal dysplasia type 532
HP:0004302HP:0004302Functional motor deficit0MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathy80
HP:0004302HP:0004302Functional motor deficit0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0004302HP:0004302Functional motor deficit0MECP2 CL E G H42046990ORPHA:778Rett syndrome950
HP:0004302HP:0004302Functional motor deficit0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0004302HP:0004302Functional motor deficit0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset158
HP:0004302HP:0004302Functional motor deficit0MEN1 CL E G H42217010ORPHA:2965Prolactinoma462
HP:0004302HP:0004302Functional motor deficit0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0004302HP:0004302Functional motor deficit0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0004302HP:0004302Functional motor deficit0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B203
HP:0004302HP:0004302Functional motor deficit0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0004302HP:0004302Functional motor deficit0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0004302HP:0004302Functional motor deficit0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0004302HP:0004302Functional motor deficit0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signs14
HP:0004302HP:0004302Functional motor deficit0MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0004302HP:0004302Functional motor deficit0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0004302HP:0004302Functional motor deficit0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0004302HP:0004302Functional motor deficit0MPL CL E G H43527217ORPHA:824Primary myelofibrosis97
HP:0004302HP:0004302Functional motor deficit0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0004302HP:0004302Functional motor deficit0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0004302HP:0004302Functional motor deficit0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1532
HP:0004302HP:0004302Functional motor deficit0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0004302HP:0004302Functional motor deficit0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia
HP:0004302HP:0004302Functional motor deficit0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0004302HP:0004302Functional motor deficit0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0004302HP:0004302Functional motor deficit0MTOR CL E G H24753942ORPHA:99802HemimegalencephalyHP:0040283 - Occasional68
HP:0004302HP:0004302Functional motor deficit0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome19
HP:0004302HP:0004302Functional motor deficit0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0004302HP:0004302Functional motor deficit0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0004302HP:0004302Functional motor deficit0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency72
HP:0004302HP:0004302Functional motor deficit0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0004302HP:0004302Functional motor deficit0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0004302HP:0004302Functional motor deficit0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0004302HP:0004302Functional motor deficit0MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0004302HP:0004302Functional motor deficit0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0004302HP:0004302Functional motor deficit0MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0004302HP:0004302Functional motor deficit0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0004302HP:0004302Functional motor deficit0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1A75
HP:0004302HP:0004302Functional motor deficit0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0004302HP:0004302Functional motor deficit0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0004302HP:0004302Functional motor deficit0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0004302HP:0004302Functional motor deficit0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0004302HP:0004302Functional motor deficit0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0004302HP:0004302Functional motor deficit0NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 242
HP:0004302HP:0004302Functional motor deficit0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0004302HP:0004302Functional motor deficit0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathy745
HP:0004302HP:0004302Functional motor deficit0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0004302HP:0004302Functional motor deficit0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0004302HP:0004302Functional motor deficit0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0004302HP:0004302Functional motor deficit0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0004302HP:0004302Functional motor deficit0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0004302HP:0004302Functional motor deficit0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0004302HP:0004302Functional motor deficit0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0004302HP:0004302Functional motor deficit0NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary51
HP:0004302HP:0004302Functional motor deficit0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0004302HP:0004302Functional motor deficit0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophy2
HP:0004302HP:0004302Functional motor deficit0NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical1
HP:0004302HP:0004302Functional motor deficit0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0004302HP:0004302Functional motor deficit0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0004302HP:0004302Functional motor deficit0NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0004302HP:0004302Functional motor deficit0NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movements
HP:0004302HP:0004302Functional motor deficit0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0004302HP:0004302Functional motor deficit0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0004302HP:0004302Functional motor deficit0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathy8
HP:0004302HP:0004302Functional motor deficit0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 2189
HP:0004302HP:0004302Functional motor deficit0NUDT2 CL E G H3188049OMIM:619844
HP:0004302HP:0004302Functional motor deficit0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0004302HP:0004302Functional motor deficit0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0004302HP:0004302Functional motor deficit0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0004302HP:0004302Functional motor deficit0OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0004302HP:0004302Functional motor deficit0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 919
HP:0004302HP:0004302Functional motor deficit0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0004302HP:0004302Functional motor deficit0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegeneration55
HP:0004302HP:0004302Functional motor deficit0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathy14
HP:0004302HP:0004302Functional motor deficit0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0004302HP:0004302Functional motor deficit0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvement5
HP:0004302HP:0004302Functional motor deficit0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0004302HP:0004302Functional motor deficit0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0004302HP:0004302Functional motor deficit0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0004302HP:0004302Functional motor deficit0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0004302HP:0004302Functional motor deficit0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B82
HP:0004302HP:0004302Functional motor deficit0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0004302HP:0004302Functional motor deficit0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 6720
HP:0004302HP:0004302Functional motor deficit0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0004302HP:0004302Functional motor deficit0PIK3CA CL E G H52908975ORPHA:99802HemimegalencephalyHP:0040283 - Occasional162
HP:0004302HP:0004302Functional motor deficit0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0004302HP:0004302Functional motor deficit0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 311
HP:0004302HP:0004302Functional motor deficit0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndrome107
HP:0004302HP:0004302Functional motor deficit0PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q759
HP:0004302HP:0004302Functional motor deficit0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0004302HP:0004302Functional motor deficit0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4186
HP:0004302HP:0004302Functional motor deficit0PLP1 CL E G H53549086ORPHA:280234Null syndrome60
HP:0004302HP:0004302Functional motor deficit0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriers60
HP:0004302HP:0004302Functional motor deficit0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0004302HP:0004302Functional motor deficit0PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040282 - Frequent60
HP:0004302HP:0004302Functional motor deficit0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0004302HP:0004302Functional motor deficit0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0004302HP:0004302Functional motor deficit0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0004302HP:0004302Functional motor deficit0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy65
HP:0004302HP:0004302Functional motor deficit0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0004302HP:0004302Functional motor deficit0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0004302HP:0004302Functional motor deficit0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy464
HP:0004302HP:0004302Functional motor deficit0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0004302HP:0004302Functional motor deficit0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0004302HP:0004302Functional motor deficit0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0004302HP:0004302Functional motor deficit0POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0004302HP:0004302Functional motor deficit0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0004302HP:0004302Functional motor deficit0POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3180
HP:0004302HP:0004302Functional motor deficit0POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1218
HP:0004302HP:0004302Functional motor deficit0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disability213
HP:0004302HP:0004302Functional motor deficit0POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1213
HP:0004302HP:0004302Functional motor deficit0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0004302HP:0004302Functional motor deficit0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14221
HP:0004302HP:0004302Functional motor deficit0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0004302HP:0004302Functional motor deficit0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0004302HP:0004302Functional motor deficit0PRF1 CL E G H55519360ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional58
HP:0004302HP:0004302Functional motor deficit0PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxoma134
HP:0004302HP:0004302Functional motor deficit0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 169
HP:0004302HP:0004302Functional motor deficit0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F170
HP:0004302HP:0004302Functional motor deficit0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040281 - Very frequent81
HP:0004302HP:0004302Functional motor deficit0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0004302HP:0004302Functional motor deficit0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0004302HP:0004302Functional motor deficit0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0004302HP:0004302Functional motor deficit0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0004302HP:0004302Functional motor deficit0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathy11
HP:0004302HP:0004302Functional motor deficit0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0004302HP:0004302Functional motor deficit0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0004302HP:0004302Functional motor deficit0RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movements9
HP:0004302HP:0004302Functional motor deficit0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0004302HP:0004302Functional motor deficit0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0004302HP:0004302Functional motor deficit0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0004302HP:0004302Functional motor deficit0RASA1 CL E G H59219871ORPHA:137667Capillary malformation-arteriovenous malformationHP:0040284 - Very rare88
HP:0004302HP:0004302Functional motor deficit0REEP1 CL E G H6505525786OMIM:62001187
HP:0004302HP:0004302Functional motor deficit0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 3187
HP:0004302HP:0004302Functional motor deficit0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy3
HP:0004302HP:0004302Functional motor deficit0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndrome33
HP:0004302HP:0004302Functional motor deficit0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndrome34
HP:0004302HP:0004302Functional motor deficit0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndrome60
HP:0004302HP:0004302Functional motor deficit0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutation
HP:0004302HP:0004302Functional motor deficit0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndrome
HP:0004302HP:0004302Functional motor deficit0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0004302HP:0004302Functional motor deficit0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy125
HP:0004302HP:0004302Functional motor deficit0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0004302HP:0004302Functional motor deficit0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy125
HP:0004302HP:0004302Functional motor deficit0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0004302HP:0004302Functional motor deficit0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 1225
HP:0004302HP:0004302Functional motor deficit0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0004302HP:0004302Functional motor deficit0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0004302HP:0004302Functional motor deficit0RYR1 CL E G H626110483ORPHA:597Central core disease1200
HP:0004302HP:0004302Functional motor deficit0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0004302HP:0004302Functional motor deficit0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onset1200
HP:0004302HP:0004302Functional motor deficit0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0004302HP:0004302Functional motor deficit0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvement1200
HP:0004302HP:0004302Functional motor deficit0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0004302HP:0004302Functional motor deficit0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndrome55
HP:0004302HP:0004302Functional motor deficit0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0004302HP:0004302Functional motor deficit0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2180
HP:0004302HP:0004302Functional motor deficit0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathy70
HP:0004302HP:0004302Functional motor deficit0SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16263
HP:0004302HP:0004302Functional motor deficit0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0004302HP:0004302Functional motor deficit0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathy357
HP:0004302HP:0004302Functional motor deficit0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0004302HP:0004302Functional motor deficit0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0004302HP:0004302Functional motor deficit0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 215
HP:0004302HP:0004302Functional motor deficit0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiency304
HP:0004302HP:0004302Functional motor deficit0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiency16
HP:0004302HP:0004302Functional motor deficit0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiency237
HP:0004302HP:0004302Functional motor deficit0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiency129
HP:0004302HP:0004302Functional motor deficit0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040283 - Occasional
HP:0004302HP:0004302Functional motor deficit0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0004302HP:0004302Functional motor deficit0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0004302HP:0004302Functional motor deficit0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3132
HP:0004302HP:0004302Functional motor deficit0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4113
HP:0004302HP:0004302Functional motor deficit0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F223
HP:0004302HP:0004302Functional motor deficit0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0004302HP:0004302Functional motor deficit0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040281 - Very frequent493
HP:0004302HP:0004302Functional motor deficit0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0004302HP:0004302Functional motor deficit0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0004302HP:0004302Functional motor deficit0SLC12A6 CL E G H999010914OMIM:620068163
HP:0004302HP:0004302Functional motor deficit0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathy73
HP:0004302HP:0004302Functional motor deficit0SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic2
HP:0004302HP:0004302Functional motor deficit0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0004302HP:0004302Functional motor deficit0SLC19A3 CL E G H8070416266ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndromeHP:0040283 - Occasional110
HP:0004302HP:0004302Functional motor deficit0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0004302HP:0004302Functional motor deficit0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0004302HP:0004302Functional motor deficit0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0004302HP:0004302Functional motor deficit0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0004302HP:0004302Functional motor deficit0SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)36
HP:0004302HP:0004302Functional motor deficit0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0004302HP:0004302Functional motor deficit0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0004302HP:0004302Functional motor deficit0SLC2A3 CL E G H651511007ORPHA:399Huntington disease1
HP:0004302HP:0004302Functional motor deficit0SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome42
HP:0004302HP:0004302Functional motor deficit0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0004302HP:0004302Functional motor deficit0SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary52
HP:0004302HP:0004302Functional motor deficit0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0004302HP:0004302Functional motor deficit0SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA9
HP:0004302HP:0004302Functional motor deficit0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0004302HP:0004302Functional motor deficit0SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0004302HP:0004302Functional motor deficit0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0004302HP:0004302Functional motor deficit0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0004302HP:0004302Functional motor deficit0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0004302HP:0004302Functional motor deficit0SMG9 CL E G H5600625763OMIM:6199952
HP:0004302HP:0004302Functional motor deficit0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0004302HP:0004302Functional motor deficit0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0004302HP:0004302Functional motor deficit0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 182
HP:0004302HP:0004302Functional motor deficit0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0004302HP:0004302Functional motor deficit0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0004302HP:0004302Functional motor deficit0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0004302HP:0004302Functional motor deficit0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0004302HP:0004302Functional motor deficit0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040282 - Frequent208
HP:0004302HP:0004302Functional motor deficit0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0004302HP:0004302Functional motor deficit0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0004302HP:0004302Functional motor deficit0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 2128
HP:0004302HP:0004302Functional motor deficit0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0004302HP:0004302Functional motor deficit0SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0004302HP:0004302Functional motor deficit0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander type62
HP:0004302HP:0004302Functional motor deficit0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 131
HP:0004302HP:0004302Functional motor deficit0STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy6
HP:0004302HP:0004302Functional motor deficit0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0004302HP:0004302Functional motor deficit0STX11 CL E G H867611429ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional85
HP:0004302HP:0004302Functional motor deficit0STXBP2 CL E G H681311445ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional70
HP:0004302HP:0004302Functional motor deficit0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0004302HP:0004302Functional motor deficit0SURF1 CL E G H683411474OMIM:616684Charcot-Marie-Tooth disease, type 4K73
HP:0004302HP:0004302Functional motor deficit0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathy108
HP:0004302HP:0004302Functional motor deficit0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathy9
HP:0004302HP:0004302Functional motor deficit0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0004302HP:0004302Functional motor deficit0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0004302HP:0004302Functional motor deficit0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0004302HP:0004302Functional motor deficit0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathy123
HP:0004302HP:0004302Functional motor deficit0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonism21
HP:0004302HP:0004302Functional motor deficit0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11
HP:0004302HP:0004302Functional motor deficit0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome52
HP:0004302HP:0004302Functional motor deficit0TBK1 CL E G H2911011584ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional20
HP:0004302HP:0004302Functional motor deficit0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0004302HP:0004302Functional motor deficit0TDP2 CL E G H5156717768OMIM:616949Spinocerebellar ataxia, autosomal recessive 233
HP:0004302HP:0004302Functional motor deficit0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0004302HP:0004302Functional motor deficit0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosis3
HP:0004302HP:0004302Functional motor deficit0TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 5718
HP:0004302HP:0004302Functional motor deficit0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0004302HP:0004302Functional motor deficit0TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0004302HP:0004302Functional motor deficit0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0004302HP:0004302Functional motor deficit0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0004302HP:0004302Functional motor deficit0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander type5
HP:0004302HP:0004302Functional motor deficit0TICAM1 CL E G H14802218348ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional6
HP:0004302HP:0004302Functional motor deficit0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic form103
HP:0004302HP:0004302Functional motor deficit0TLR3 CL E G H709811849ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional3
HP:0004302HP:0004302Functional motor deficit0TMEM126B CL E G H5586330883OMIM:618250Mitochondrial complex I deficiency, nuclear type 294
HP:0004302HP:0004302Functional motor deficit0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 271
HP:0004302HP:0004302Functional motor deficit0TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y10
HP:0004302HP:0004302Functional motor deficit0TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0004302HP:0004302Functional motor deficit0TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0004302HP:0004302Functional motor deficit0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0004302HP:0004302Functional motor deficit0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0004302HP:0004302Functional motor deficit0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 454
HP:0004302HP:0004302Functional motor deficit0TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0004302HP:0004302Functional motor deficit0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0004302HP:0004302Functional motor deficit0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0004302HP:0004302Functional motor deficit0TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathy108
HP:0004302HP:0004302Functional motor deficit0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia203
HP:0004302HP:0004302Functional motor deficit0TRAF3 CL E G H718712033ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional2
HP:0004302HP:0004302Functional motor deficit0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0004302HP:0004302Functional motor deficit0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0004302HP:0004302Functional motor deficit0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndrome27
HP:0004302HP:0004302Functional motor deficit0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 1827
HP:0004302HP:0004302Functional motor deficit0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R1827
HP:0004302HP:0004302Functional motor deficit0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndrome56
HP:0004302HP:0004302Functional motor deficit0TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0004302HP:0004302Functional motor deficit0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0004302HP:0004302Functional motor deficit0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type214
HP:0004302HP:0004302Functional motor deficit0TTBK2 CL E G H14605719141ORPHA:98767Spinocerebellar ataxia type 1157
HP:0004302HP:0004302Functional motor deficit0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0004302HP:0004302Functional motor deficit0TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 107128
HP:0004302HP:0004302Functional motor deficit0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0004302HP:0004302Functional motor deficit0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophy7128
HP:0004302HP:0004302Functional motor deficit0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0004302HP:0004302Functional motor deficit0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0004302HP:0004302Functional motor deficit0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy138
HP:0004302HP:0004302Functional motor deficit0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0004302HP:0004302Functional motor deficit0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12
HP:0004302HP:0004302Functional motor deficit0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0004302HP:0004302Functional motor deficit0UNC13D CL E G H20129423147ORPHA:540Familial hemophagocytic lymphohistiocytosisHP:0040283 - Occasional116
HP:0004302HP:0004302Functional motor deficit0UNC93B1 CL E G H8162213481ORPHA:1930Herpes simplex virus encephalitisHP:0040283 - Occasional5
HP:0004302HP:0004302Functional motor deficit0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability27
HP:0004302HP:0004302Functional motor deficit0VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 12
HP:0004302HP:0004302Functional motor deficit0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0004302HP:0004302Functional motor deficit0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0004302HP:0004302Functional motor deficit0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0004302HP:0004302Functional motor deficit0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0004302HP:0004302Functional motor deficit0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0004302HP:0004302Functional motor deficit0VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A104
HP:0004302HP:0004302Functional motor deficit0VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy10
HP:0004302HP:0004302Functional motor deficit0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0004302HP:0004302Functional motor deficit0VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4
HP:0004302HP:0004302Functional motor deficit0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0004302HP:0004302Functional motor deficit0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0004302HP:0004302Functional motor deficit0WARS1 CL E G H745312729OMIM:617721Neuronopathy, distal hereditary motor, type IX
HP:0004302HP:0004302Functional motor deficit0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defect2
HP:0004302HP:0004302Functional motor deficit0WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 883
HP:0004302HP:0004302Functional motor deficit0WDR48 CL E G H5759930914ORPHA:401800Autosomal recessive spastic paraplegia type 601
HP:0004302HP:0004302Functional motor deficit0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0004302HP:0004302Functional motor deficit0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathy149
HP:0004302HP:0004302Functional motor deficit0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C
HP:0004302HP:0004302Functional motor deficit0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0004302HP:0002355Difficulty walking1AARS1 CL E G H1620OMIM:619661LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0004302HP:0002355Difficulty walking1AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004302HP:0003698Difficulty standing1ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0004302HP:0002355Difficulty walking1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0004302HP:0002355Difficulty walking1ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040282 - Frequent90
HP:0004302HP:0002355Difficulty walking1ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0004302HP:0002355Difficulty walking1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent96
HP:0004302HP:0003388Easy fatigability1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0004302HP:0002355Difficulty walking1ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0004302HP:0002359Frequent falls1ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0004302HP:0003551Difficulty climbing stairs1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0004302HP:0002355Difficulty walking1ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004302HP:0002355Difficulty walking1ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0004302HP:0002359Frequent falls1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0004302HP:0002359Frequent falls1ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0004302HP:0002355Difficulty walking1ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040282 - Frequent25
HP:0004302HP:0002359Frequent falls1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040283 - Occasional
HP:0004302HP:0009046Difficulty running1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0004302HP:0003551Difficulty climbing stairs1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0004302HP:0003388Easy fatigability1AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0004302HP:0009046Difficulty running1AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8127
HP:0004302HP:0003388Easy fatigability1AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8.127
HP:0004302HP:0003388Easy fatigability1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0004302HP:0002355Difficulty walking1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0004302HP:0003388Easy fatigability1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0004302HP:0003388Easy fatigability1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0004302HP:0003388Easy fatigability1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0004302HP:0002355Difficulty walking1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0004302HP:0002355Difficulty walking1ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0004302HP:0002355Difficulty walking1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0004302HP:0003388Easy fatigability1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0004302HP:0003551Difficulty climbing stairs1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0004302HP:0009046Difficulty running1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0004302HP:0002359Frequent falls1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0004302HP:0002359Frequent falls1ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0004302HP:0002355Difficulty walking1ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 15.12
HP:0004302HP:0002359Frequent falls1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0004302HP:0003388Easy fatigability1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0004302HP:0009046Difficulty running1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0004302HP:0003551Difficulty climbing stairs1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0004302HP:0002355Difficulty walking1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0004302HP:0002355Difficulty walking1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0004302HP:0002355Difficulty walking1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent114
HP:0004302HP:0009046Difficulty running1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040282 - Frequent304
HP:0004302HP:0002355Difficulty walking1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040282 - Frequent304
HP:0004302HP:0003551Difficulty climbing stairs1ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0004302HP:0009046Difficulty running1ANO5 CL E G H20385927337OMIM:613319Miyoshi muscular dystrophy 3.304
HP:0004302HP:0002355Difficulty walking1AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0004302HP:0002355Difficulty walking1AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0004302HP:0002355Difficulty walking1AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0004302HP:0002355Difficulty walking1AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0004302HP:0002355Difficulty walking1AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0004302HP:0002355Difficulty walking1AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0004302HP:0002359Frequent falls1ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0004302HP:0002359Frequent falls1ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0004302HP:0002355Difficulty walking1ARL6IP1 CL E G H23204697ORPHA:401780Autosomal recessive spastic paraplegia type 61HP:0040282 - Frequent1
HP:0004302HP:0002355Difficulty walking1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0004302HP:0002359Frequent falls1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0004302HP:0002359Frequent falls1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0004302HP:0002359Frequent falls1ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0004302HP:0002355Difficulty walking1ARSI CL E G H34007532521ORPHA:401815Autosomal recessive spastic paraplegia type 66HP:0040282 - Frequent1
HP:0004302HP:0002355Difficulty walking1ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004302HP:0002359Frequent falls1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0004302HP:0002355Difficulty walking1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0004302HP:0002359Frequent falls1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0004302HP:0002355Difficulty walking1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040282 - Frequent78
HP:0004302HP:0002359Frequent falls1ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040284 - Very rare71
HP:0004302HP:0002355Difficulty walking1ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0004302HP:0002355Difficulty walking1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0004302HP:0003388Easy fatigability1ATP13A3 CL E G H7957224113OMIM:265400Pulmonary hypertension, primary, autosomal recessive.
HP:0004302HP:0002355Difficulty walking1ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0004302HP:0002355Difficulty walking1ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0004302HP:0009046Difficulty running1ATP2A1 CL E G H487811OMIM:601003BRODY MYOPATHY80
HP:0004302HP:0003698Difficulty standing1ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0004302HP:0002359Frequent falls1ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0004302HP:0002355Difficulty walking1ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0004302HP:0002359Frequent falls1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0004302HP:0002355Difficulty walking1ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040282 - Frequent
HP:0004302HP:0002359Frequent falls1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0004302HP:0002355Difficulty walking1ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004302HP:0002355Difficulty walking1ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0004302HP:0002355Difficulty walking1B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0004302HP:0002359Frequent falls1B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0004302HP:0003388Easy fatigability1BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0004302HP:0002355Difficulty walking1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0004302HP:0002355Difficulty walking1BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040282 - Frequent46
HP:0004302HP:0009046Difficulty running1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant.46
HP:0004302HP:0002355Difficulty walking1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0004302HP:0009046Difficulty running1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0004302HP:0003551Difficulty climbing stairs1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0004302HP:0002359Frequent falls1BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0004302HP:0002355Difficulty walking1BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0004302HP:0002355Difficulty walking1BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 25HP:0040284 - Very rare2
HP:0004302HP:0002355Difficulty walking1C19ORF12 CL E G H8363625443ORPHA:320370Autosomal recessive spastic paraplegia type 43HP:0040281 - Very frequent114
HP:0004302HP:0002359Frequent falls1C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0004302HP:0002355Difficulty walking1CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0004302HP:0002355Difficulty walking1CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0004302HP:0002355Difficulty walking1CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0004302HP:0003388Easy fatigability1CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0004302HP:0002355Difficulty walking1CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0004302HP:0003551Difficulty climbing stairs1CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040283 - Occasional323
HP:0004302HP:0002355Difficulty walking1CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0004302HP:0002355Difficulty walking1CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A.323
HP:0004302HP:0003388Easy fatigability1CASQ1 CL E G H8441512OMIM:616231Myopathy, vacuolar, with CASQ1 aggregates.5
HP:0004302HP:0002359Frequent falls1CCDC78 CL E G H12409314153OMIM:614807Myopathy, centronuclear, 425
HP:0004302HP:0002355Difficulty walking1CCN6 CL E G H883812771OMIM:208230Arthropathy, progressive pseudorheumatoid, of childhood.
HP:0004302HP:0003388Easy fatigability1CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040282 - Frequent
HP:0004302HP:0003388Easy fatigability1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0004302HP:0003388Easy fatigability1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0004302HP:0002355Difficulty walking1CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004302HP:0002355Difficulty walking1CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0004302HP:0002355Difficulty walking1CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0004302HP:0002355Difficulty walking1CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004302HP:0002359Frequent falls1CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0004302HP:0003388Easy fatigability1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0004302HP:0002355Difficulty walking1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0004302HP:0002355Difficulty walking1CHCHD10 CL E G H40091615559OMIM:615048Spinal muscular atrophy, Jokela type.11
HP:0004302HP:0002359Frequent falls1CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive.
HP:0004302HP:0003388Easy fatigability1CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0004302HP:0003388Easy fatigability1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0004302HP:0003388Easy fatigability1CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0004302HP:0003388Easy fatigability1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0004302HP:0003388Easy fatigability1CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel.88
HP:0004302HP:0003388Easy fatigability1CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0004302HP:0003388Easy fatigability1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0004302HP:0003388Easy fatigability1CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0004302HP:0003388Easy fatigability1CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.139
HP:0004302HP:0003388Easy fatigability1CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0004302HP:0003388Easy fatigability1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0004302HP:0002355Difficulty walking1CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0004302HP:0003698Difficulty standing1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0004302HP:0002359Frequent falls1CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0004302HP:0002355Difficulty walking1CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004302HP:0002355Difficulty walking1CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0004302HP:0002355Difficulty walking1COASY CL E G H8034729932ORPHA:397725COASY protein-associated neurodegenerationHP:0040281 - Very frequent16
HP:0004302HP:0002355Difficulty walking1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040282 - Frequent65
HP:0004302HP:0009046Difficulty running1COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 2.65
HP:0004302HP:0002359Frequent falls1COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0004302HP:0003388Easy fatigability1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0004302HP:0002355Difficulty walking1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0004302HP:0003388Easy fatigability1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0004302HP:0002355Difficulty walking1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040282 - Frequent442
HP:0004302HP:0002359Frequent falls1COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0004302HP:0002355Difficulty walking1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040282 - Frequent478
HP:0004302HP:0002359Frequent falls1COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0004302HP:0002355Difficulty walking1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040282 - Frequent702
HP:0004302HP:0002359Frequent falls1COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0004302HP:0003388Easy fatigability1COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0004302HP:0003388Easy fatigability1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0004302HP:0002359Frequent falls1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare90
HP:0004302HP:0002359Frequent falls1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0004302HP:0002359Frequent falls1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0004302HP:0002355Difficulty walking1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0004302HP:0002359Frequent falls1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0004302HP:0002355Difficulty walking1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0004302HP:0002355Difficulty walking1CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040282 - Frequent1
HP:0004302HP:0002355Difficulty walking1CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant.1
HP:0004302HP:0002355Difficulty walking1CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0004302HP:0002359Frequent falls1CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0004302HP:0002355Difficulty walking1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040283 - Occasional46
HP:0004302HP:0002355Difficulty walking1CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0004302HP:0002359Frequent falls1CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0004302HP:0003388Easy fatigability1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0004302HP:0002359Frequent falls1CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0004302HP:0002355Difficulty walking1CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004302HP:0002355Difficulty walking1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0004302HP:0002355Difficulty walking1CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040282 - Frequent41
HP:0004302HP:0002355Difficulty walking1CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0004302HP:0003698Difficulty standing1CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0004302HP:0002355Difficulty walking1CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040282 - Frequent5
HP:0004302HP:0003698Difficulty standing1CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0004302HP:0002355Difficulty walking1CYP2R1 CL E G H12022720580OMIM:600081Vitamin D hydroxylation-deficient rickets, type 1B.5
HP:0004302HP:0002359Frequent falls1DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37.4
HP:0004302HP:0003551Difficulty climbing stairs1DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040282 - Frequent108
HP:0004302HP:0003551Difficulty climbing stairs1DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9108
HP:0004302HP:0002355Difficulty walking1DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.108
HP:0004302HP:0002355Difficulty walking1DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004302HP:0002355Difficulty walking1DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040282 - Frequent60
HP:0004302HP:0003388Easy fatigability1DCC CL E G H16302701ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent36
HP:0004302HP:0002355Difficulty walking1DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive.35
HP:0004302HP:0002355Difficulty walking1DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0004302HP:0002355Difficulty walking1DES CL E G H16742770ORPHA:98909DesminopathyHP:0040282 - Frequent263
HP:0004302HP:0002355Difficulty walking1DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0004302HP:0002355Difficulty walking1DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q.12
HP:0004302HP:0002355Difficulty walking1DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040281 - Very frequent82
HP:0004302HP:0002355Difficulty walking1DMD CL E G H17562928ORPHA:98895Becker muscular dystrophyHP:0040281 - Very frequent1496
HP:0004302HP:0003551Difficulty climbing stairs1DMD CL E G H17562928ORPHA:98895Becker muscular dystrophyHP:0040281 - Very frequent1496
HP:0004302HP:0003551Difficulty climbing stairs1DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0004302HP:0002355Difficulty walking1DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0004302HP:0003551Difficulty climbing stairs1DNAJB6 CL E G H1004914888ORPHA:34516DNAJB6-related limb-girdle muscular dystrophy D1HP:0040282 - Frequent103
HP:0004302HP:0003551Difficulty climbing stairs1DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E.103
HP:0004302HP:0009046Difficulty running1DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0004302HP:0002359Frequent falls1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0004302HP:0003388Easy fatigability1DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent2
HP:0004302HP:0002355Difficulty walking1DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31.72
HP:0004302HP:0002355Difficulty walking1DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0004302HP:0002355Difficulty walking1DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0004302HP:0002355Difficulty walking1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0004302HP:0003388Easy fatigability1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant.167
HP:0004302HP:0003388Easy fatigability1DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial.91
HP:0004302HP:0003388Easy fatigability1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0004302HP:0002359Frequent falls1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0004302HP:0002355Difficulty walking1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0004302HP:0009046Difficulty running1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0004302HP:0003388Easy fatigability1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0004302HP:0003551Difficulty climbing stairs1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0004302HP:0002355Difficulty walking1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0004302HP:0003698Difficulty standing1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0004302HP:0002359Frequent falls1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040283 - Occasional65
HP:0004302HP:0009046Difficulty running1DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0004302HP:0002359Frequent falls1DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0004302HP:0009046Difficulty running1DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0004302HP:0003551Difficulty climbing stairs1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0004302HP:0009046Difficulty running1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0004302HP:0003551Difficulty climbing stairs1DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1.600
HP:0004302HP:0002355Difficulty walking1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0004302HP:0003551Difficulty climbing stairs1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0004302HP:0003698Difficulty standing1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0004302HP:0009046Difficulty running1DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B.600
HP:0004302HP:0003551Difficulty climbing stairs1DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B.600
HP:0004302HP:0002355Difficulty walking1EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0004302HP:0002355Difficulty walking1EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040283 - Occasional65
HP:0004302HP:0002355Difficulty walking1EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome.8
HP:0004302HP:0002359Frequent falls1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0004302HP:0002355Difficulty walking1ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 38HP:0040281 - Very frequent4
HP:0004302HP:0002355Difficulty walking1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent20
HP:0004302HP:0002355Difficulty walking1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0004302HP:0002355Difficulty walking1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0004302HP:0002355Difficulty walking1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent199
HP:0004302HP:0002355Difficulty walking1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent199
HP:0004302HP:0002355Difficulty walking1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0004302HP:0002355Difficulty walking1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040282 - Frequent55
HP:0004302HP:0002355Difficulty walking1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040282 - Frequent55
HP:0004302HP:0002355Difficulty walking1ERLIN1 CL E G H1061316947ORPHA:401785Autosomal recessive spastic paraplegia type 62HP:0040282 - Frequent2
HP:0004302HP:0002355Difficulty walking1ERLIN1 CL E G H1061316947OMIM:615681Spastic paraplegia 62, autosomal recessive2
HP:0004302HP:0002359Frequent falls1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0004302HP:0002355Difficulty walking1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040281 - Very frequent76
HP:0004302HP:0002355Difficulty walking1FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0004302HP:0003698Difficulty standing1FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0004302HP:0002355Difficulty walking1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0004302HP:0009046Difficulty running1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0004302HP:0002355Difficulty walking1FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0004302HP:0002355Difficulty walking1FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004302HP:0002355Difficulty walking1FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004302HP:0002355Difficulty walking1FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040282 - Frequent47
HP:0004302HP:0002359Frequent falls1FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset.68
HP:0004302HP:0009046Difficulty running1FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset68
HP:0004302HP:0002355Difficulty walking1FHL1 CL E G H22733702OMIM:300280Uruguay faciocardiomusculoskeletal syndrome.68
HP:0004302HP:0002359Frequent falls1FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4J.111
HP:0004302HP:0003388Easy fatigability1FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040282 - Frequent13
HP:0004302HP:0002355Difficulty walking1FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0004302HP:0002359Frequent falls1FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0004302HP:0003551Difficulty climbing stairs1FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040283 - Occasional157
HP:0004302HP:0009046Difficulty running1FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040283 - Occasional157
HP:0004302HP:0002359Frequent falls1FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040283 - Occasional157
HP:0004302HP:0002355Difficulty walking1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0004302HP:0003551Difficulty climbing stairs1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0004302HP:0002359Frequent falls1FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0004302HP:0003551Difficulty climbing stairs1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0004302HP:0002359Frequent falls1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0004302HP:0002355Difficulty walking1FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0004302HP:0002359Frequent falls1FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0004302HP:0002355Difficulty walking1FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0004302HP:0009046Difficulty running1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040282 - Frequent197
HP:0004302HP:0002355Difficulty walking1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040281 - Very frequent197
HP:0004302HP:0003551Difficulty climbing stairs1FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant.197
HP:0004302HP:0002355Difficulty walking1FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0004302HP:0002355Difficulty walking1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0004302HP:0002355Difficulty walking1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0004302HP:0002355Difficulty walking1FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0004302HP:0002355Difficulty walking1FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004302HP:0003551Difficulty climbing stairs1GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0004302HP:0002355Difficulty walking1GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0004302HP:0033235Difficulty descending stairs1GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0004302HP:0002355Difficulty walking1GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0004302HP:0002355Difficulty walking1GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0004302HP:0002355Difficulty walking1GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004302HP:0002355Difficulty walking1GABRB2 CL E G H25614082OMIM:617829Epileptic encephalopathy, infantile or early childhood, 2.44
HP:0004302HP:0002355Difficulty walking1GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0004302HP:0002355Difficulty walking1GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0004302HP:0002359Frequent falls1GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0004302HP:0002359Frequent falls1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0004302HP:0002355Difficulty walking1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0004302HP:0002355Difficulty walking1GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040281 - Very frequent121
HP:0004302HP:0002359Frequent falls1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0004302HP:0002355Difficulty walking1GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040281 - Very frequent30
HP:0004302HP:0002355Difficulty walking1GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0004302HP:0002359Frequent falls1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0004302HP:0002359Frequent falls1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0004302HP:0002359Frequent falls1GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0004302HP:0009046Difficulty running1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0004302HP:0003551Difficulty climbing stairs1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0004302HP:0003388Easy fatigability1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0004302HP:0002355Difficulty walking1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0004302HP:0002359Frequent falls1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0004302HP:0003388Easy fatigability1GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0004302HP:0003388Easy fatigability1GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0004302HP:0002359Frequent falls1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0004302HP:0002355Difficulty walking1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0004302HP:0002355Difficulty walking1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1.107
HP:0004302HP:0002359Frequent falls1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0004302HP:0002359Frequent falls1GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0004302HP:0002355Difficulty walking1GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 44HP:0040282 - Frequent37
HP:0004302HP:0002355Difficulty walking1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0004302HP:0002359Frequent falls1GLRA1 CL E G H27414326OMIM:149400Hyperekplexia 1.63
HP:0004302HP:0003388Easy fatigability1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0004302HP:0002355Difficulty walking1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0004302HP:0002359Frequent falls1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0004302HP:0009046Difficulty running1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0004302HP:0003551Difficulty climbing stairs1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0004302HP:0003551Difficulty climbing stairs1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040282 - Frequent34
HP:0004302HP:0003388Easy fatigability1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0004302HP:0002355Difficulty walking1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0004302HP:0002355Difficulty walking1GOSR2 CL E G H95704431OMIM:614018Epilepsy, progressive myoclonic, 6.88
HP:0004302HP:0002355Difficulty walking1GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0004302HP:0003698Difficulty standing1GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0004302HP:0002359Frequent falls1GPHN CL E G H1024315465OMIM:149400Hyperekplexia 1.18
HP:0004302HP:0002355Difficulty walking1GPT2 CL E G H8470618062ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndromeHP:0040282 - Frequent4
HP:0004302HP:0002355Difficulty walking1GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyHP:0040282 - Frequent18
HP:0004302HP:0003698Difficulty standing1GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0004302HP:0002359Frequent falls1GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0004302HP:0002355Difficulty walking1GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004302HP:0003698Difficulty standing1GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040281 - Very frequent8
HP:0004302HP:0002359Frequent falls1GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0004302HP:0003388Easy fatigability1GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0004302HP:0002355Difficulty walking1GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 2.18
HP:0004302HP:0003388Easy fatigability1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0004302HP:0002355Difficulty walking1HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0004302HP:0003551Difficulty climbing stairs1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0004302HP:0002359Frequent falls1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0004302HP:0003551Difficulty climbing stairs1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0004302HP:0002359Frequent falls1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0004302HP:0002355Difficulty walking1HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0004302HP:0002355Difficulty walking1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040282 - Frequent16
HP:0004302HP:0002359Frequent falls1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0004302HP:0002355Difficulty walking1HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040282 - Frequent11
HP:0004302HP:0002355Difficulty walking1HK1 CL E G H30984922OMIM:605285Neuropathy, hereditary motor and sensory, Russe type.11
HP:0004302HP:0003388Easy fatigability1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0004302HP:0003388Easy fatigability1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0004302HP:0002355Difficulty walking1HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0004302HP:0002355Difficulty walking1HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB.47
HP:0004302HP:0003388Easy fatigability1HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0004302HP:0002355Difficulty walking1HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0004302HP:0002355Difficulty walking1HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040282 - Frequent12
HP:0004302HP:0002355Difficulty walking1IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0004302HP:0002355Difficulty walking1IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0004302HP:0002355Difficulty walking1INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0004302HP:0002355Difficulty walking1ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0004302HP:0003388Easy fatigability1ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0004302HP:0002359Frequent falls1ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0004302HP:0003388Easy fatigability1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0004302HP:0003388Easy fatigability1JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0004302HP:0002355Difficulty walking1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent80
HP:0004302HP:0003551Difficulty climbing stairs1KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 6.80
HP:0004302HP:0009046Difficulty running1KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 6.80
HP:0004302HP:0002355Difficulty walking1KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0004302HP:0002355Difficulty walking1KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0004302HP:0002355Difficulty walking1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0004302HP:0009046Difficulty running1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0004302HP:0002355Difficulty walking1KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040281 - Very frequent35
HP:0004302HP:0002355Difficulty walking1KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040283 - Occasional121
HP:0004302HP:0002359Frequent falls1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0004302HP:0002359Frequent falls1KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessive.38
HP:0004302HP:0002355Difficulty walking1KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0004302HP:0002355Difficulty walking1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent13
HP:0004302HP:0002355Difficulty walking1KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0004302HP:0002355Difficulty walking1KLHL9 CL E G H5595818732ORPHA:399081KLHL9-related early-onset distal myopathyHP:0040282 - Frequent3
HP:0004302HP:0002355Difficulty walking1KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37HP:0040283 - Occasional
HP:0004302HP:0003698Difficulty standing1KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0004302HP:0009046Difficulty running1KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0004302HP:0002355Difficulty walking1KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0004302HP:0009046Difficulty running1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0004302HP:0003551Difficulty climbing stairs1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0004302HP:0002359Frequent falls1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040284 - Very rare92
HP:0004302HP:0003388Easy fatigability1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0004302HP:0003388Easy fatigability1LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiencyHP:0040282 - Frequent35
HP:0004302HP:0003388Easy fatigability1LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0004302HP:0003551Difficulty climbing stairs1LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0004302HP:0002355Difficulty walking1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0004302HP:0003551Difficulty climbing stairs1LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0004302HP:0002355Difficulty walking1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0004302HP:0002355Difficulty walking1LRP4 CL E G H40386696OMIM:616304Myasthenic syndrome, congenital, 17.124
HP:0004302HP:0003388Easy fatigability1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0004302HP:0002359Frequent falls1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0004302HP:0002355Difficulty walking1LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0004302HP:0002355Difficulty walking1LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0004302HP:0003388Easy fatigability1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0004302HP:0003388Easy fatigability1MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0004302HP:0002359Frequent falls1MAPT CL E G H41376893ORPHA:240103Progressive supranuclear palsy-corticobasal syndromeHP:0040282 - Frequent140
HP:0004302HP:0002355Difficulty walking1MARCHF6 CL E G H1029930550OMIM:613608Epilepsy, familial adult myoclonic, 3.HP:0003581 - Adult onset
HP:0004302HP:0002355Difficulty walking1MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0004302HP:0002355Difficulty walking1MATN3 CL E G H41486909ORPHA:93311Multiple epiphyseal dysplasia type 5HP:0040283 - Occasional32
HP:0004302HP:0002355Difficulty walking1MATR3 CL E G H97826912ORPHA:600Vocal cord and pharyngeal distal myopathyHP:0040282 - Frequent80
HP:0004302HP:0002355Difficulty walking1MECP2 CL E G H42046990ORPHA:778Rett syndromeHP:0040282 - Frequent950
HP:0004302HP:0002355Difficulty walking1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0004302HP:0009046Difficulty running1MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0004302HP:0003388Easy fatigability1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0004302HP:0002359Frequent falls1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0004302HP:0009046Difficulty running1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0004302HP:0003551Difficulty climbing stairs1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0004302HP:0002355Difficulty walking1MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0004302HP:0003388Easy fatigability1MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0004302HP:0003388Easy fatigability1MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0004302HP:0002359Frequent falls1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0004302HP:0003388Easy fatigability1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0004302HP:0009046Difficulty running1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs.14
HP:0004302HP:0002355Difficulty walking1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs.14
HP:0004302HP:0002355Difficulty walking1MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0004302HP:0009046Difficulty running1MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0004302HP:0003551Difficulty climbing stairs1MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0004302HP:0002355Difficulty walking1MIEF2 CL E G H12517017920OMIM:619024COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0004302HP:0009046Difficulty running1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0004302HP:0002355Difficulty walking1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0004302HP:0002355Difficulty walking1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z.8
HP:0004302HP:0003388Easy fatigability1MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0004302HP:0002359Frequent falls1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional134
HP:0004302HP:0002355Difficulty walking1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0004302HP:0002359Frequent falls1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0004302HP:0002359Frequent falls1MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0004302HP:0002355Difficulty walking1MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0004302HP:0002355Difficulty walking1MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0004302HP:0002355Difficulty walking1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0004302HP:0003388Easy fatigability1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant.7
HP:0004302HP:0002359Frequent falls1MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040282 - Frequent19
HP:0004302HP:0002355Difficulty walking1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0004302HP:0002355Difficulty walking1MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0004302HP:0003388Easy fatigability1MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0004302HP:0003388Easy fatigability1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0004302HP:0002355Difficulty walking1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0004302HP:0002355Difficulty walking1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040282 - Frequent1269
HP:0004302HP:0009046Difficulty running1MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0004302HP:0003551Difficulty climbing stairs1MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0004302HP:0002355Difficulty walking1MYH7 CL E G H46257577OMIM:608358Myopathy, myosin storage1269
HP:0004302HP:0003388Easy fatigability1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0004302HP:0002355Difficulty walking1MYO1H CL E G H28344613879OMIM:619482CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0004302HP:0002355Difficulty walking1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0004302HP:0003388Easy fatigability1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0004302HP:0003551Difficulty climbing stairs1MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040282 - Frequent75
HP:0004302HP:0003698Difficulty standing1MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040282 - Frequent75
HP:0004302HP:0002355Difficulty walking1MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040281 - Very frequent75
HP:0004302HP:0009046Difficulty running1MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0004302HP:0002359Frequent falls1MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0004302HP:0003551Difficulty climbing stairs1MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0004302HP:0003388Easy fatigability1MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0004302HP:0002355Difficulty walking1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent217
HP:0004302HP:0002355Difficulty walking1NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0004302HP:0002355Difficulty walking1NDUFS8 CL E G H47287715OMIM:618222Mitochondrial complex I deficiency, nuclear type 2.42
HP:0004302HP:0002355Difficulty walking1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent745
HP:0004302HP:0002355Difficulty walking1NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0004302HP:0003388Easy fatigability1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0004302HP:0002359Frequent falls1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0004302HP:0002355Difficulty walking1NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004302HP:0002359Frequent falls1NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC.24
HP:0004302HP:0009046Difficulty running1NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040282 - Frequent118
HP:0004302HP:0002359Frequent falls1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0004302HP:0002355Difficulty walking1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0004302HP:0003388Easy fatigability1NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0004302HP:0002359Frequent falls1NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary51
HP:0004302HP:0002355Difficulty walking1NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress.51
HP:0004302HP:0002355Difficulty walking1NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent2
HP:0004302HP:0002359Frequent falls1NOL3 CL E G H89967869OMIM:614937Myoclonus, familial cortical.1
HP:0004302HP:0002355Difficulty walking1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040282 - Frequent9
HP:0004302HP:0002355Difficulty walking1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0004302HP:0002355Difficulty walking1NPR3 CL E G H48837945OMIM:619543BOUDIN-MORTIER SYNDROME; BOMOS
HP:0004302HP:0003388Easy fatigability1NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent
HP:0004302HP:0002355Difficulty walking1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0004302HP:0002355Difficulty walking1NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0004302HP:0002355Difficulty walking1NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 21.89
HP:0004302HP:0002359Frequent falls1NUDT2 CL E G H3188049OMIM:619844
HP:0004302HP:0002359Frequent falls1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0004302HP:0002355Difficulty walking1NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0004302HP:0002359Frequent falls1OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0004302HP:0002355Difficulty walking1ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0004302HP:0002359Frequent falls1PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040284 - Very rare55
HP:0004302HP:0002359Frequent falls1PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0004302HP:0002355Difficulty walking1PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0004302HP:0002359Frequent falls1PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset.5
HP:0004302HP:0002359Frequent falls1PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0004302HP:0002355Difficulty walking1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0004302HP:0002355Difficulty walking1PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0004302HP:0002359Frequent falls1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0004302HP:0002359Frequent falls1PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0004302HP:0009046Difficulty running1PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0004302HP:0002355Difficulty walking1PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0004302HP:0002355Difficulty walking1PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0004302HP:0002355Difficulty walking1PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0004302HP:0002359Frequent falls1PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0004302HP:0002355Difficulty walking1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0004302HP:0002359Frequent falls1PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0004302HP:0002355Difficulty walking1PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040282 - Frequent107
HP:0004302HP:0003551Difficulty climbing stairs1PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q.759
HP:0004302HP:0002359Frequent falls1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759
HP:0004302HP:0003551Difficulty climbing stairs1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759
HP:0004302HP:0002355Difficulty walking1PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0004302HP:0003551Difficulty climbing stairs1PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0004302HP:0002355Difficulty walking1PLP1 CL E G H53549086ORPHA:280234Null syndromeHP:0040282 - Frequent60
HP:0004302HP:0002355Difficulty walking1PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0004302HP:0002355Difficulty walking1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0004302HP:0002355Difficulty walking1PLP1 CL E G H53549086ORPHA:280210Pelizaeus-Merzbacher disease, connatal formHP:0040283 - Occasional60
HP:0004302HP:0002359Frequent falls1PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G.1
HP:0004302HP:0002355Difficulty walking1PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G.1
HP:0004302HP:0002355Difficulty walking1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040281 - Very frequent79
HP:0004302HP:0002359Frequent falls1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040283 - Occasional79
HP:0004302HP:0002355Difficulty walking1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0004302HP:0003388Easy fatigability1PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0004302HP:0002355Difficulty walking1PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0004302HP:0009046Difficulty running1PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0004302HP:0003388Easy fatigability1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0004302HP:0002355Difficulty walking1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0004302HP:0009046Difficulty running1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0004302HP:0003388Easy fatigability1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0004302HP:0003551Difficulty climbing stairs1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0004302HP:0002359Frequent falls1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0004302HP:0003388Easy fatigability1POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0004302HP:0003551Difficulty climbing stairs1POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0004302HP:0002359Frequent falls1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0004302HP:0003551Difficulty climbing stairs1POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0004302HP:0002359Frequent falls1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0004302HP:0003388Easy fatigability1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0004302HP:0003551Difficulty climbing stairs1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0004302HP:0002355Difficulty walking1POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0004302HP:0002359Frequent falls1POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0004302HP:0003551Difficulty climbing stairs1POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.180
HP:0004302HP:0003551Difficulty climbing stairs1POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.18
HP:0004302HP:0002359Frequent falls1POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0004302HP:0002355Difficulty walking1POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0004302HP:0003551Difficulty climbing stairs1POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0004302HP:0003388Easy fatigability1POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0004302HP:0002355Difficulty walking1POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0004302HP:0002355Difficulty walking1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040281 - Very frequent213
HP:0004302HP:0003388Easy fatigability1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0004302HP:0003551Difficulty climbing stairs1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040281 - Very frequent213
HP:0004302HP:0002355Difficulty walking1POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040282 - Frequent221
HP:0004302HP:0003551Difficulty climbing stairs1POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040282 - Frequent221
HP:0004302HP:0009046Difficulty running1POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0004302HP:0002355Difficulty walking1PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0004302HP:0003388Easy fatigability1PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxomaHP:0040282 - Frequent134
HP:0004302HP:0002359Frequent falls1PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0004302HP:0002355Difficulty walking1PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F.170
HP:0004302HP:0002359Frequent falls1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0004302HP:0002355Difficulty walking1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0004302HP:0002359Frequent falls1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0004302HP:0002359Frequent falls1PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0004302HP:0002355Difficulty walking1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040282 - Frequent1
HP:0004302HP:0002355Difficulty walking1PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0004302HP:0009046Difficulty running1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0004302HP:0003551Difficulty climbing stairs1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0004302HP:0003388Easy fatigability1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0004302HP:0002359Frequent falls1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0004302HP:0002355Difficulty walking1RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0004302HP:0003388Easy fatigability1RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent9
HP:0004302HP:0003388Easy fatigability1RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.73
HP:0004302HP:0009046Difficulty running1RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0004302HP:0003388Easy fatigability1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0004302HP:0002355Difficulty walking1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0004302HP:0002359Frequent falls1REEP1 CL E G H6505525786OMIM:62001187
HP:0004302HP:0009046Difficulty running1REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040282 - Frequent87
HP:0004302HP:0002355Difficulty walking1REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040282 - Frequent87
HP:0004302HP:0003551Difficulty climbing stairs1RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent3
HP:0004302HP:0002355Difficulty walking1RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0004302HP:0002355Difficulty walking1RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0004302HP:0002355Difficulty walking1RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0004302HP:0002355Difficulty walking1RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0004302HP:0002359Frequent falls1RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0004302HP:0002355Difficulty walking1RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0004302HP:0002359Frequent falls1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0004302HP:0003551Difficulty climbing stairs1RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040282 - Frequent125
HP:0004302HP:0003551Difficulty climbing stairs1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0004302HP:0002359Frequent falls1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0004302HP:0003388Easy fatigability1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0004302HP:0003388Easy fatigability1RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0004302HP:0002355Difficulty walking1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0004302HP:0002355Difficulty walking1RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040281 - Very frequent25
HP:0004302HP:0002355Difficulty walking1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0004302HP:0009046Difficulty running1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0004302HP:0003551Difficulty climbing stairs1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0004302HP:0003388Easy fatigability1RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040282 - Frequent1200
HP:0004302HP:0009046Difficulty running1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0004302HP:0003388Easy fatigability1RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0004302HP:0009046Difficulty running1RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia1200
HP:0004302HP:0009046Difficulty running1RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0004302HP:0002355Difficulty walking1SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0004302HP:0002355Difficulty walking1SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0004302HP:0002355Difficulty walking1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0004302HP:0002355Difficulty walking1SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0004302HP:0002355Difficulty walking1SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0004302HP:0003388Easy fatigability1SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16.263
HP:0004302HP:0003388Easy fatigability1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0004302HP:0002355Difficulty walking1SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0004302HP:0002359Frequent falls1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0004302HP:0002359Frequent falls1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0004302HP:0002359Frequent falls1SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0004302HP:0003388Easy fatigability1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0004302HP:0002359Frequent falls1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional304
HP:0004302HP:0002359Frequent falls1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional16
HP:0004302HP:0003388Easy fatigability1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0004302HP:0003388Easy fatigability1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0004302HP:0002359Frequent falls1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional237
HP:0004302HP:0003388Easy fatigability1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0004302HP:0002359Frequent falls1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040283 - Occasional129
HP:0004302HP:0003388Easy fatigability1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0004302HP:0002355Difficulty walking1SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile.162
HP:0004302HP:0002359Frequent falls1SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0004302HP:0003551Difficulty climbing stairs1SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0004302HP:0002355Difficulty walking1SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0004302HP:0003551Difficulty climbing stairs1SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F223
HP:0004302HP:0002355Difficulty walking1SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0004302HP:0003551Difficulty climbing stairs1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0004302HP:0002359Frequent falls1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0004302HP:0009046Difficulty running1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0004302HP:0002355Difficulty walking1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040281 - Very frequent493
HP:0004302HP:0002359Frequent falls1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040282 - Frequent493
HP:0004302HP:0002355Difficulty walking1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0004302HP:0002355Difficulty walking1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0004302HP:0002359Frequent falls1SLC12A6 CL E G H999010914OMIM:620068163
HP:0004302HP:0002355Difficulty walking1SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0004302HP:0002355Difficulty walking1SLC18A3 CL E G H657210936OMIM:617239Myasthenic syndrome, congenital, 21, presynaptic.2
HP:0004302HP:0002355Difficulty walking1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0004302HP:0003388Easy fatigability1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0004302HP:0002359Frequent falls1SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0004302HP:0002355Difficulty walking1SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0004302HP:0002359Frequent falls1SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0004302HP:0003388Easy fatigability1SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0004302HP:0003388Easy fatigability1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0004302HP:0002355Difficulty walking1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0004302HP:0002355Difficulty walking1SLC25A19 CL E G H6038614409OMIM:613710Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type).36
HP:0004302HP:0002359Frequent falls1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0004302HP:0003551Difficulty climbing stairs1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0004302HP:0003388Easy fatigability1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0004302HP:0003388Easy fatigability1SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0004302HP:0002355Difficulty walking1SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040282 - Frequent1
HP:0004302HP:0002355Difficulty walking1SLC30A10 CL E G H5553225355ORPHA:309854Cirrhosis-dystonia-polycythemia-hypermanganesemia syndromeHP:0040282 - Frequent42
HP:0004302HP:0002355Difficulty walking1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0004302HP:0002355Difficulty walking1SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary.52
HP:0004302HP:0003698Difficulty standing1SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary.52
HP:0004302HP:0002355Difficulty walking1SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004302HP:0002355Difficulty walking1SLC5A7 CL E G H6048214025OMIM:158580Neuronopathy, distal hereditary motor, type VIIA.9
HP:0004302HP:0003388Easy fatigability1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0004302HP:0002355Difficulty walking1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0004302HP:0002355Difficulty walking1SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0004302HP:0002355Difficulty walking1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0004302HP:0002355Difficulty walking1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0004302HP:0002359Frequent falls1SMG9 CL E G H5600625763OMIM:6199952
HP:0004302HP:0002355Difficulty walking1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0004302HP:0003698Difficulty standing1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0004302HP:0002355Difficulty walking1SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 18.2
HP:0004302HP:0002355Difficulty walking1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0004302HP:0003388Easy fatigability1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0004302HP:0002359Frequent falls1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0004302HP:0002355Difficulty walking1SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0004302HP:0002355Difficulty walking1SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0004302HP:0009046Difficulty running1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent20
HP:0004302HP:0003551Difficulty climbing stairs1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent20
HP:0004302HP:0002355Difficulty walking1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent287
HP:0004302HP:0002355Difficulty walking1SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040281 - Very frequent28
HP:0004302HP:0002355Difficulty walking1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent54
HP:0004302HP:0002359Frequent falls1SPTLC1 CL E G H1055811277OMIM:162400Neuropathy, hereditary sensory and autonomic, type IA54
HP:0004302HP:0002355Difficulty walking1SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent62
HP:0004302HP:0009046Difficulty running1STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0004302HP:0003388Easy fatigability1STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0004302HP:0002359Frequent falls1STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0004302HP:0002355Difficulty walking1STRADA CL E G H9233530172OMIM:611087Polyhydramnios, megalencephaly, and symptomatic epilepsy.6
HP:0004302HP:0002355Difficulty walking1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040282 - Frequent14
HP:0004302HP:0002355Difficulty walking1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0004302HP:0002355Difficulty walking1SURF1 CL E G H683411474OMIM:616684Charcot-Marie-Tooth disease, type 4K73
HP:0004302HP:0003388Easy fatigability1SURF1 CL E G H683411474OMIM:616684Charcot-Marie-Tooth disease, type 4K73
HP:0004302HP:0002355Difficulty walking1SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0004302HP:0002355Difficulty walking1SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0004302HP:0003388Easy fatigability1SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic.4
HP:0004302HP:0003388Easy fatigability1SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0004302HP:0003388Easy fatigability1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0004302HP:0002355Difficulty walking1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0004302HP:0002355Difficulty walking1SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0004302HP:0002355Difficulty walking1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040283 - Occasional21
HP:0004302HP:0002359Frequent falls1TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040283 - Occasional21
HP:0004302HP:0002355Difficulty walking1TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0004302HP:0003698Difficulty standing1TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0004302HP:0002355Difficulty walking1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0004302HP:0009046Difficulty running1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0004302HP:0003551Difficulty climbing stairs1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0004302HP:0003388Easy fatigability1TDP2 CL E G H5156717768OMIM:616949Spinocerebellar ataxia, autosomal recessive 23.3
HP:0004302HP:0002355Difficulty walking1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0004302HP:0003388Easy fatigability1TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0004302HP:0003551Difficulty climbing stairs1TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 57HP:0040280 - Obligate18
HP:0004302HP:0003698Difficulty standing1TFG CL E G H1034211758ORPHA:431329Autosomal recessive spastic paraplegia type 57HP:0040280 - Obligate18
HP:0004302HP:0003698Difficulty standing1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18
HP:0004302HP:0003388Easy fatigability1TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0004302HP:0002355Difficulty walking1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0004302HP:0002355Difficulty walking1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040282 - Frequent58
HP:0004302HP:0002355Difficulty walking1TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040282 - Frequent5
HP:0004302HP:0002355Difficulty walking1TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0004302HP:0003698Difficulty standing1TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0004302HP:0003388Easy fatigability1TMEM126B CL E G H5586330883OMIM:618250Mitochondrial complex I deficiency, nuclear type 29.4
HP:0004302HP:0009046Difficulty running1TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2.71
HP:0004302HP:0003551Difficulty climbing stairs1TOR1AIP1 CL E G H2609229456OMIM:617072Muscular dystrophy, limb-girdle, type 2Y10
HP:0004302HP:0002355Difficulty walking1TPK1 CL E G H2701017358OMIM:614458Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)21
HP:0004302HP:0009046Difficulty running1TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0004302HP:0003388Easy fatigability1TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0004302HP:0002359Frequent falls1TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0004302HP:0003551Difficulty climbing stairs1TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0004302HP:0002355Difficulty walking1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent54
HP:0004302HP:0003388Easy fatigability1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0004302HP:0002355Difficulty walking1TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0004302HP:0003388Easy fatigability1TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0004302HP:0009046Difficulty running1TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0004302HP:0003551Difficulty climbing stairs1TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0004302HP:0002359Frequent falls1TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0004302HP:0002355Difficulty walking1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent108
HP:0004302HP:0003388Easy fatigability1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0004302HP:0002355Difficulty walking1TPM3 CL E G H717012012ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent108
HP:0004302HP:0002355Difficulty walking1TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0004302HP:0002355Difficulty walking1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0004302HP:0002355Difficulty walking1TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0004302HP:0002355Difficulty walking1TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0004302HP:0002355Difficulty walking1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0004302HP:0002355Difficulty walking1TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0004302HP:0002355Difficulty walking1TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0004302HP:0003698Difficulty standing1TRMT5 CL E G H5757023141OMIM:616539Combined oxidative phosphorylation deficiency 264
HP:0004302HP:0002359Frequent falls1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040283 - Occasional
HP:0004302HP:0009046Difficulty running1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040282 - Frequent
HP:0004302HP:0003551Difficulty climbing stairs1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040282 - Frequent
HP:0004302HP:0002355Difficulty walking1TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0004302HP:0002355Difficulty walking1TTBK2 CL E G H14605719141ORPHA:98767Spinocerebellar ataxia type 11HP:0040281 - Very frequent57
HP:0004302HP:0003551Difficulty climbing stairs1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent7128
HP:0004302HP:0009046Difficulty running1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent7128
HP:0004302HP:0003551Difficulty climbing stairs1TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 107128
HP:0004302HP:0002359Frequent falls1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0004302HP:0002355Difficulty walking1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0004302HP:0002355Difficulty walking1TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040282 - Frequent7128
HP:0004302HP:0003388Easy fatigability1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0004302HP:0003551Difficulty climbing stairs1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0004302HP:0002359Frequent falls1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0004302HP:0003551Difficulty climbing stairs1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0004302HP:0002359Frequent falls1TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis113
HP:0004302HP:0003388Easy fatigability1TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0004302HP:0002355Difficulty walking1UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0004302HP:0002355Difficulty walking1UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040281 - Very frequent
HP:0004302HP:0002355Difficulty walking1USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0004302HP:0002355Difficulty walking1VAMP1 CL E G H684312642ORPHA:251282Autosomal dominant spastic ataxia type 1HP:0040282 - Frequent2
HP:0004302HP:0002355Difficulty walking1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0004302HP:0003388Easy fatigability1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0004302HP:0002355Difficulty walking1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0004302HP:0002359Frequent falls1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0004302HP:0002355Difficulty walking1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0004302HP:0002359Frequent falls1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0004302HP:0002355Difficulty walking1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0004302HP:0003551Difficulty climbing stairs1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0004302HP:0009046Difficulty running1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0004302HP:0003551Difficulty climbing stairs1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0004302HP:0003698Difficulty standing1VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0004302HP:0002355Difficulty walking1VDR CL E G H742112679OMIM:277440Vitamin d-dependent rickets, type 2A.104
HP:0004302HP:0009046Difficulty running1VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy.10
HP:0004302HP:0003551Difficulty climbing stairs1VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy.10
HP:0004302HP:0002359Frequent falls1VPS13D CL E G H5518723595OMIM:607317Spinocerebellar ataxia, autosomal recessive 4.
HP:0004302HP:0002359Frequent falls1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37
HP:0004302HP:0002359Frequent falls1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0004302HP:0002355Difficulty walking1WARS1 CL E G H745312729OMIM:617721Neuronopathy, distal hereditary motor, type IX.
HP:0004302HP:0003698Difficulty standing1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0004302HP:0002355Difficulty walking1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0004302HP:0002355Difficulty walking1WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 8HP:0040281 - Very frequent83
HP:0004302HP:0002355Difficulty walking1WDR48 CL E G H5759930914ORPHA:401800Autosomal recessive spastic paraplegia type 60HP:0040282 - Frequent1
HP:0004302HP:0003551Difficulty climbing stairs1WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0004302HP:0002355Difficulty walking1WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0004302HP:0009046Difficulty running1YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C
HP:0004302HP:0002355Difficulty walking1YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C
HP:0004302HP:0002355Difficulty walking1YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional


Genes (468) :AARS1 ABCC8 ABCD1 ABHD5 ACOX1 ACTA1 ACTL6B ADAR ADCY5 ADSS1 AGK AGRN AIP AK9 AKT1 AKT3 ALAD ALG14 ALG2 ALS2 ANO5 AOPEP AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 ARG1 ARHGEF2 ARL6IP1 ARSA ARSI ARV1 ASAH1 ASPA ATL1 ATP13A2 ATP13A3 ATP1A2 ATP1A3 ATP2A1 ATP2B3 ATP5MC3 ATP6 ATP6AP2 ATP6V1A ATP7B B4GALNT1 BAG3 BAP1 BICD2 BIN1 BRCC3 BSCL2 BVES C19ORF12 CACNA1A CACNA1B CACNA2D1 CALR CAPN1 CAPN3 CASQ1 CCDC78 CCDC88C CCN6 CDH23 CDK19 CDK8 CDKL5 CELF2 CFL2 CHAT CHCHD10 CHP1 CHRNA1 CHRNB1 CHRND CHRNE CIZ1 CLN8 CLTC CNKSR2 COASY COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COLQ COQ2 COX1 COX20 COX3 COX7B CPT1C CRPPA CRYAB CSF1R CWF19L1 CYFIP2 CYP27A1 CYP27B1 CYP2R1 DAB1 DAG1 DALRD3 DARS2 DCC DDHD1 DDX6 DES DHDDS DHTKD1 DLAT DMD DNA2 DNAJB6 DNAJC13 DNAL4 DNM1 DNM1L DNM2 DOK7 DPAGT1 DYM DYNC1H1 DYSF EEF1A2 EIF2AK3 EIF2S3 EIF4G1 ELOVL5 EPHB4 ERCC1 ERCC4 ERCC6 ERCC8 ERLIN1 EXT1 EXT2 FA2H FAR1 FBXO38 FDX2 FGF12 FGF13 FGF14 FHL1 FIG4 FKBP14 FKRP FKTN FLNC FLRT1 FTL FUS FUZ FZR1 GAA GABBR2 GABRA2 GABRA5 GABRB2 GABRG2 GALC GAN GBA1 GBA2 GBF1 GDAP1 GDAP2 GFPT1 GIGYF2 GIPC1 GJB1 GJC2 GLE1 GLRA1 GMPPB GNS GOSR2 GPAA1 GPHN GPT2 GRID2 GRIN2A GRIN2D GRM1 GTPBP3 GYG1 HACD1 HACE1 HADHA HADHB HCCS HCN1 HERC1 HINT1 HK1 HNRNPK HPCA HSPB1 HSPB3 HTT IBA57 IFIH1 INTS1 ISCU ITGA7 JAK2 JPH3 KBTBD13 KCNA2 KCNB1 KCNC3 KCND3 KCNJ10 KIF1C KLC2 KLHL41 KLHL9 KPNA3 KY LAMA2 LAMB2 LDHA LIG3 LIPE LMNB1 LPIN1 LRIF1 LRP12 LRP4 LRRK2 LSM11 LYSET MAP3K20 MAPT MARCHF6 MARS1 MATN3 MATR3 MECP2 MED25 MEGF10 MEN1 MFF MFN2 MGME1 MICU1 MIEF2 MORC2 MPL MPZ MRE11 MSTO1 MTMR14 MTOR MTPAP MTRFR MUSK MYF6 MYH7 MYL2 MYO1H MYO9A MYOT MYPN NACC1 NDUFB11 NDUFS8 NEB NECAP1 NEFH NEFL NF2 NFE2L2 NKX2-1 NKX6-2 NOL3 NOP56 NOTCH2NLC NPR3 NTN1 NTNG1 NTRK1 NTRK2 NUBPL NUDT2 NUP62 NUS1 OCA2 OPA1 ORAI1 PANK2 PARS2 PDE10A PDGFB PDK3 PEX1 PEX16 PEX2 PEX6 PGAP1 PI4KA PIK3CA PIK3R5 PKP1 PLEC PLEKHG5 PLP1 PMP2 PMP22 PNPLA2 POLG POLG2 POLR3B POMGNT1 POMK POMT1 POMT2 POPDC3 PPP3CA PRF1 PRKAR1A PRNP PRX PSAP PUS3 PYCR2 PYROXD1 RAB11B RAD51 RAPSN RARS1 RASA1 REEP1 RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNU12 RNU7-1 RPL10 RRM2B RSPRY1 RTN2 RYR1 SACS SAMHD1 SBF2 SCN3A SCN4A SCN8A SCO2 SCYL1 SDHA SDHAF1 SDHB SDHD SELENOI SELENON SETX SGCA SGCB SGCD SGCG SH3TC2 SIGMAR1 SLC12A6 SLC13A5 SLC18A3 SLC19A3 SLC1A2 SLC25A1 SLC25A19 SLC25A4 SLC2A3 SLC30A10 SLC30A9 SLC34A3 SLC38A3 SLC5A7 SLC7A6OS SMARCB1 SMARCE1 SMC1A SMG9 SMO SMS SNAP25 SNCA SORD SPART SPAST SPEG SPG11 SPG21 SPTLC1 SQSTM1 STIM1 STRADA STUB1 STX11 STXBP2 SUFU SURF1 SYNGAP1 SYNJ1 SYT2 SZT2 TAF1 TBC1D23 TBCE TBK1 TCAP TDP2 TERT TET2 TFG TGFB1 TGM6 TIA1 TICAM1 TK2 TLR3 TMEM126B TNPO3 TOR1AIP1 TPK1 TPM2 TPM3 TPP1 TRAF3 TRAF7 TRAK1 TRAPPC11 TREX1 TRMT5 TRNE TRPV4 TTBK2 TTN TWNK TYMP UBA5 UBAP1 UBE3A UNC13D UNC93B1 USP9X VAMP1 VCP VDR VMA21 VPS13A VPS13D VPS35 VWA1 WARS1 WARS2 WASHC5 WDR48 WDR62 WWOX YARS1 YWHAG

Diseases (429) :OMIM:619661 ORPHA:442835 OMIM:618857 ORPHA:139399 ORPHA:139396 ORPHA:98907 OMIM:618960 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:161800 ORPHA:97240 ORPHA:51 ORPHA:225154 OMIM:619647 ORPHA:324588 ORPHA:482601 OMIM:212350 OMIM:615120 ORPHA:98913 ORPHA:98914 ORPHA:2965 ORPHA:2495 ORPHA:99802 ORPHA:100924 ORPHA:353327 OMIM:616227 OMIM:205100 ORPHA:300605 ORPHA:399096 OMIM:613319 OMIM:619565 ORPHA:280763 OMIM:207800 OMIM:617523 ORPHA:401780 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:401815 OMIM:159950 ORPHA:2590 ORPHA:314911 ORPHA:100984 ORPHA:513436 ORPHA:306674 OMIM:265400 OMIM:601003 OMIM:302500 ORPHA:314978 OMIM:619681 ORPHA:320360 ORPHA:93952 ORPHA:905 OMIM:609195 OMIM:612954 ORPHA:363454 OMIM:615290 ORPHA:169189 ORPHA:169186 ORPHA:280679 OMIM:619112 OMIM:616812 ORPHA:320370 ORPHA:289560 ORPHA:824 OMIM:616907 ORPHA:267 OMIM:253600 OMIM:616231 OMIM:614807 ORPHA:423275 OMIM:208230 ORPHA:1159 ORPHA:91347 OMIM:618748 ORPHA:3095 ORPHA:505652 OMIM:610687 OMIM:615048 OMIM:618438 OMIM:608930 OMIM:616313 OMIM:616321 OMIM:616322 OMIM:605809 OMIM:616324 OMIM:608931 ORPHA:420492 ORPHA:1947 ORPHA:397725 ORPHA:610 OMIM:616471 ORPHA:75840 OMIM:603034 ORPHA:98915 ORPHA:227510 ORPHA:98933 ORPHA:99845 OMIM:619054 ORPHA:2556 ORPHA:444099 OMIM:616282 ORPHA:370980 ORPHA:399058 OMIM:618476 ORPHA:453521 OMIM:616127 OMIM:213700 ORPHA:289157 OMIM:264700 OMIM:600081 OMIM:615945 ORPHA:280333 OMIM:613818 ORPHA:137898 ORPHA:238722 OMIM:609340 OMIM:618653 ORPHA:98909 OMIM:615025 ORPHA:79244 ORPHA:98895 OMIM:310200 ORPHA:352470 ORPHA:34516 OMIM:603511 ORPHA:411602 OMIM:616346 ORPHA:330050 OMIM:160150 OMIM:254300 ORPHA:239 OMIM:614228 OMIM:158600 ORPHA:268 OMIM:254130 ORPHA:45448 OMIM:253601 ORPHA:1667 OMIM:300148 ORPHA:423296 ORPHA:137667 ORPHA:90322 ORPHA:90321 ORPHA:90324 ORPHA:401785 OMIM:615681 ORPHA:321 ORPHA:171629 OMIM:612319 ORPHA:438178 OMIM:615575 OMIM:251900 ORPHA:98764 OMIM:300718 OMIM:300280 OMIM:611228 ORPHA:300179 ORPHA:34515 OMIM:606612 OMIM:607155 ORPHA:63273 OMIM:609524 ORPHA:320406 ORPHA:157846 ORPHA:1136 OMIM:232300 OMIM:617829 ORPHA:206448 ORPHA:206436 ORPHA:206443 ORPHA:643 ORPHA:320391 OMIM:606483 ORPHA:101097 ORPHA:99948 OMIM:618369 OMIM:610542 ORPHA:98897 OMIM:302800 ORPHA:1175 ORPHA:320401 OMIM:611890 OMIM:149400 ORPHA:363623 OMIM:252940 OMIM:614018 ORPHA:529665 ORPHA:477673 ORPHA:363432 ORPHA:98818 ORPHA:324262 OMIM:617691 ORPHA:444013 OMIM:616199 ORPHA:464282 ORPHA:746 ORPHA:457359 ORPHA:324442 ORPHA:99953 OMIM:605285 ORPHA:352665 ORPHA:453504 ORPHA:99657 OMIM:608634 OMIM:613376 ORPHA:399 ORPHA:468661 OMIM:618571 OMIM:255125 ORPHA:98934 OMIM:609273 ORPHA:98768 ORPHA:98772 ORPHA:199343 ORPHA:397946 OMIM:611302 ORPHA:399081 ORPHA:171612 ORPHA:496689 OMIM:617114 OMIM:618138 ORPHA:284426 ORPHA:298 OMIM:615980 ORPHA:99027 OMIM:619477 OMIM:164310 OMIM:616304 OMIM:619345 OMIM:617760 ORPHA:240103 OMIM:613608 OMIM:616280 ORPHA:93311 ORPHA:600 ORPHA:778 ORPHA:464738 OMIM:614399 ORPHA:485421 ORPHA:99947 OMIM:617087 OMIM:615084 ORPHA:352447 OMIM:615673 ORPHA:401768 OMIM:619024 ORPHA:466768 OMIM:616688 ORPHA:3115 ORPHA:251347 OMIM:604391 ORPHA:502423 OMIM:617675 ORPHA:254343 ORPHA:254930 OMIM:615035 OMIM:616325 ORPHA:437572 OMIM:608358 OMIM:619482 ORPHA:266 ORPHA:98911 ORPHA:171881 OMIM:617393 OMIM:618222 OMIM:256030 OMIM:616924 ORPHA:99939 OMIM:607684 OMIM:617744 OMIM:118700 OMIM:610978 ORPHA:527497 OMIM:614937 ORPHA:276198 OMIM:619543 ORPHA:642 OMIM:618242 OMIM:619844 ORPHA:98794 OMIM:210000 OMIM:612782 ORPHA:216873 ORPHA:216866 OMIM:616921 ORPHA:494526 ORPHA:352675 OMIM:214100 OMIM:614877 OMIM:614867 ORPHA:95433 ORPHA:401820 OMIM:619621 OMIM:615217 ORPHA:158668 OMIM:613723 ORPHA:254361 OMIM:611067 ORPHA:280234 ORPHA:280229 ORPHA:280219 ORPHA:280210 OMIM:618279 ORPHA:90658 OMIM:610717 ORPHA:98908 ORPHA:254892 OMIM:258450 OMIM:607459 OMIM:619425 OMIM:619742 OMIM:613157 OMIM:616094 OMIM:609308 ORPHA:86812 ORPHA:206559 OMIM:618848 ORPHA:540 ORPHA:615 ORPHA:157941 OMIM:614895 ORPHA:488627 ORPHA:481152 OMIM:617258 OMIM:617807 OMIM:616326 ORPHA:438114 OMIM:620011 ORPHA:101011 ORPHA:329336 ORPHA:512260 OMIM:300998 ORPHA:457395 ORPHA:100993 ORPHA:597 ORPHA:98905 ORPHA:424107 OMIM:255320 ORPHA:178145 ORPHA:98 ORPHA:99956 OMIM:604563 OMIM:614198 ORPHA:521411 ORPHA:466794 OMIM:616719 ORPHA:3208 ORPHA:506353 OMIM:602433 ORPHA:62 ORPHA:119 OMIM:601287 ORPHA:353 ORPHA:99949 OMIM:601596 OMIM:620068 OMIM:617239 ORPHA:263410 OMIM:607483 OMIM:618197 OMIM:613710 OMIM:615418 ORPHA:309854 OMIM:617595 OMIM:241530 OMIM:158580 OMIM:619191 OMIM:619995 ORPHA:3063 OMIM:616330 OMIM:618912 OMIM:275900 ORPHA:100985 ORPHA:101001 OMIM:162400 ORPHA:603 OMIM:160565 OMIM:611087 ORPHA:412057 OMIM:616684 OMIM:616040 OMIM:619461 ORPHA:53351 OMIM:617695 ORPHA:496756 ORPHA:1930 OMIM:601954 OMIM:616949 ORPHA:431329 ORPHA:90117 OMIM:131300 OMIM:613908 ORPHA:276193 ORPHA:254875 OMIM:618250 OMIM:608423 OMIM:617072 OMIM:614458 OMIM:609285 ORPHA:284324 ORPHA:369847 OMIM:615356 ORPHA:369840 OMIM:616539 ORPHA:2596 ORPHA:93314 ORPHA:98767 OMIM:608807 OMIM:603689 ORPHA:609 ORPHA:480880 ORPHA:251282 ORPHA:329478 OMIM:613954 ORPHA:435387 OMIM:167320 OMIM:277440 OMIM:310440 ORPHA:2388 OMIM:607317 OMIM:619216 OMIM:617721 ORPHA:572798 ORPHA:100989 ORPHA:401800 OMIM:604317 OMIM:608323
 

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