Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619661 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ABCC8 CL E G H | 6833 | 59 | OMIM:618857 | DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3 | | | | 245 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040283 - Occasional | | | 135 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040282 - Frequent | | | 135 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | | | | 90 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 96 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | | | | 96 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | | | | 96 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 116 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:619647 | DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR | | | | 25 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ADCY5 CL E G H | 111 | 236 | ORPHA:324588 | Familial dyskinesia and facial myokymia | | | | 25 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | | | | 82 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AGRN CL E G H | 375790 | 329 | OMIM:615120 | Myasthenic syndrome, congenital, 8 | | | | 127 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 19 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 12 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:616227 | Myasthenic syndrome, congenital, 15 | | | | 12 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 46 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | | | | 304 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | | | | 304 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 7 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 49 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 48 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 41 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 18 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ARL6IP1 CL E G H | 23204 | 697 | ORPHA:401780 | Autosomal recessive spastic paraplegia type 61 | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 253 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | | | | 78 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | HP:0040281 - Very frequent | | | 78 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | HP:0040281 - Very frequent | | | 48 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | | | | 71 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | | | | 100 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP13A3 CL E G H | 79572 | 24113 | OMIM:265400 | Pulmonary hypertension, primary, autosomal recessive | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 239 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 150 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP2A1 CL E G H | 487 | 811 | OMIM:601003 | BRODY MYOPATHY | | | | 80 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | | | | 19 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | | | | 19 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP5MC3 CL E G H | 518 | 843 | OMIM:619681 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | | | | 36 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | | | | 315 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | | | | 25 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | | | | 204 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | BICD2 CL E G H | 23299 | 17208 | ORPHA:363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | | | | 46 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 99 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | | | | 114 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | | | | 114 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 449 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 59 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | | | | 323 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CASQ1 CL E G H | 844 | 1512 | OMIM:616231 | Myopathy, vacuolar, with CASQ1 aggregates | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CCDC78 CL E G H | 124093 | 14153 | OMIM:614807 | Myopathy, centronuclear, 4 | | | | 25 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | HP:0040282 - Frequent | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 405 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | | | | 405 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | | | | 11 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | | | | 74 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 74 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | | | | 53 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 53 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | | | | 88 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616322 | Myasthenic syndrome, congenital, 3B, fast-channel | | | | 88 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 88 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | | | | 139 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:616324 | Myasthenic syndrome, congenital, 4B, fast-channel | | | | 139 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 139 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 139 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | | | | 16 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | | | | 111 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 18 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | | | | 16 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | | | | 65 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616471 | Bethlem myopathy 2 | | | | 65 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 65 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | | | | 442 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 442 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | | | | 478 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 478 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | | | | 702 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 702 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | | | | 90 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 90 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CPT1C CL E G H | 126129 | 18540 | OMIM:616282 | Spastic paraplegia 73, autosomal dominant | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | | | | 46 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | | 9 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 41 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | | | | 41 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DAB1 CL E G H | 1600 | 2661 | OMIM:615945 | Spinocerebellar ataxia 37 | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | | | | 108 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | | | | 108 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | | | | 36 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | | | | 35 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | | | | 263 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 47 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | | | | 12 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040283 - Occasional | | | 82 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | | | | 1496 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | | | | 41 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DNAJB6 CL E G H | 10049 | 14888 | ORPHA:34516 | DNAJB6-related limb-girdle muscular dystrophy D1 | | | | 103 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | | | | 103 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DNM1 CL E G H | 1759 | 2972 | OMIM:616346 | Epileptic encephalopathy, early infantile, 31 | | | | 72 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 72 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | | | | 94 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | | | | 91 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 91 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 38 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | | | | 427 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | | | | 427 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | | | | 600 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | | | | 600 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | | | | 600 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | | | | 600 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 60 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | | | | 65 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ELOVL5 CL E G H | 60481 | 21308 | ORPHA:423296 | Spinocerebellar ataxia type 38 | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 20 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 199 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040282 - Frequent | | | 199 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 55 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040282 - Frequent | | | 55 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ERLIN1 CL E G H | 10613 | 16947 | ORPHA:401785 | Autosomal recessive spastic paraplegia type 62 | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:321 | Multiple osteochondromas | HP:0040282 - Frequent | | | 96 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:321 | Multiple osteochondromas | HP:0040282 - Frequent | | | 102 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | | | | 76 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | | | | 7 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | | | | 47 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | | | | 68 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | | | | 68 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | | | | 111 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | | | | 13 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 157 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | | | | 157 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | | | | 157 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | | | | 157 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 184 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | | | | 197 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | | | | 197 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040283 - Occasional | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GABRB2 CL E G H | 2561 | 4082 | OMIM:617829 | Epileptic encephalopathy, infantile or early childhood, 2 | | | | 44 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 44 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 139 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040281 - Very frequent | | | 160 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | | | | 121 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | | | | 30 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 128 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 128 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | | | | 128 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | | | | 107 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GJC2 CL E G H | 57165 | 17494 | ORPHA:320401 | Autosomal recessive spastic paraplegia type 44 | | | | 37 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | | | | 63 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | | | | 34 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | | | | 34 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | | | | 88 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | | | | 18 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GRID2 CL E G H | 2895 | 4576 | ORPHA:363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | | | | 434 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GRM1 CL E G H | 2911 | 4593 | ORPHA:324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | HP:0040282 - Frequent | | | 8 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:617691 | SPINOCEREBELLAR ATAXIA 44; SCA44 | | | | 8 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | | | | 30 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | | | | 10 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | | | | 16 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | | | | 11 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | | | | 8 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | | | | 8 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HPCA CL E G H | 3208 | 5144 | ORPHA:99657 | Primary dystonia, DYT2 type | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:608634 | Neuronopathy, distal hereditary motor, type IIB | | | | 47 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | | | | 57 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | JPH3 CL E G H | 57338 | 14203 | ORPHA:98934 | Huntington disease-like 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | | | | 80 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 13 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 65 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | | | | 35 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | | | | 38 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | | | | 38 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 13 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | | | | 92 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | | | | 35 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | | | | 7 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LRIF1 CL E G H | 55791 | 30299 | OMIM:619477 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:616304 | Myasthenic syndrome, congenital, 17 | | | | 124 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 124 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | LYSET CL E G H | 26175 | 20218 | OMIM:619345 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:617760 | Myopathy, centronuclear, 6, with fiber-type disproportion | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | | | | 140 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | | | | 32 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | | | | 80 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | | | | 950 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | | | | 43 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 17 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | | | | 203 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | | | | 11 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | | | | 14 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040282 - Frequent | | | 8 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | | | | 97 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | | | | 532 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 68 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MTPAP CL E G H | 55149 | 25532 | ORPHA:254343 | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome | | | | 19 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | | | | 72 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 72 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | | 1269 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | | | | 75 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | | | | 75 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | | | | 217 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | | | | 42 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 745 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:118700 | Chorea, benign hereditary | | | | 51 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NOL3 CL E G H | 8996 | 7869 | OMIM:614937 | Myoclonus, familial cortical | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | | | | 9 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NPR3 CL E G H | 4883 | 7945 | OMIM:619543 | BOUDIN-MORTIER SYNDROME; BOMOS | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040283 - Occasional | | | 97 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 8 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | | | | 89 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 7 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 121 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | | | | 19 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | | | | 55 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216866 | Classic pantothenate kinase-associated neurodegeneration | | | | 55 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 14 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PDE10A CL E G H | 10846 | 8772 | OMIM:616921 | Dyskinesia, limb and orofacial, infantile-onset | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494526 | Infantile-onset generalized dyskinesia with orofacial involvement | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | | | | 82 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | | | | 98 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PGAP1 CL E G H | 80055 | 25712 | ORPHA:401820 | Autosomal recessive spastic paraplegia type 67 | | | | 20 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:99802 | Hemimegalencephaly | HP:0040283 - Occasional | | | 162 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | | | | 11 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | | | | 107 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | | | | 759 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | | | | 186 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280234 | Null syndrome | | | | 60 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | | | | 60 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | | | | 60 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280210 | Pelizaeus-Merzbacher disease, connatal form | HP:0040282 - Frequent | | | 60 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | | | | 65 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | | | | 65 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 464 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 464 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 45 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | | | | 180 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POMK CL E G H | 84197 | 26267 | OMIM:616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | | | | 18 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | | | | 213 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | | | | 213 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | | | | 213 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | | | | 221 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 58 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | | | | 134 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | | | | 69 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | | | | 170 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040281 - Very frequent | | | 81 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 81 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | | | | 81 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | | | | 11 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | | | | 9 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 73 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:137667 | Capillary malformation-arteriovenous malformation | HP:0040284 - Very rare | | | 88 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | | | | 87 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 125 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 125 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 125 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | 25 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 1200 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | | | | 1200 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | | | | 1200 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | | | | 1200 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | | | | 180 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 70 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SCN4A CL E G H | 6329 | 10591 | OMIM:614198 | Myasthenic syndrome, congenital, 16 | | | | 263 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 263 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 357 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | | | | 40 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 304 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 16 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 237 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 129 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | | | | 162 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | | | | 132 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | | | | 113 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | | | | 223 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | | | | 83 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040281 - Very frequent | | | 493 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 73 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC18A3 CL E G H | 6572 | 10936 | OMIM:617239 | Myasthenic syndrome, congenital, 21, presynaptic | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:263410 | Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome | HP:0040283 - Occasional | | | 110 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | | | | 28 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | | | | 36 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 68 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | | | | 42 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | | | | 52 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:158580 | Neuronopathy, distal hereditary motor, type VIIA | | | | 9 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SLC7A6OS CL E G H | 84138 | 25807 | OMIM:619191 | EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | | | | 19 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SNAP25 CL E G H | 6616 | 11132 | OMIM:616330 | Myasthenic syndrome, congenital, 18 | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | | | | 66 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | HP:0040282 - Frequent | | | 208 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 20 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | | | | 28 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | | | | 62 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | | | | 31 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | | | | 6 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 85 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 70 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 108 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 9 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:616040 | Myasthenic syndrome, congenital, 7, presynaptic | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 123 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | | | | 21 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | | | | 52 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TBK1 CL E G H | 29110 | 11584 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 20 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | | | | 78 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:431329 | Autosomal recessive spastic paraplegia type 57 | | | | 18 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | | | | 18 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | | | | 58 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | | | | 58 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TICAM1 CL E G H | 148022 | 18348 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 6 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | | | | 103 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TLR3 CL E G H | 7098 | 11849 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 3 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | | | | 71 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TOR1AIP1 CL E G H | 26092 | 29456 | OMIM:617072 | Muscular dystrophy, limb-girdle, type 2Y | | | | 10 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | | | | 54 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | | | | 108 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 108 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | | | | 203 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TRAF3 CL E G H | 7187 | 12033 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | | | | 27 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | | | | 27 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | | | | 27 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | | | | 4 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TTBK2 CL E G H | 146057 | 19141 | ORPHA:98767 | Spinocerebellar ataxia type 11 | | | | 57 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | | | | 7128 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | | | | 7128 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | | | | 7128 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 113 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 138 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 13 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | UBE3A CL E G H | 7337 | 12496 | ORPHA:98794 | Angelman syndrome due to maternal 15q11q13 deletion | HP:0040282 - Frequent | | | 278 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040283 - Occasional | | | 116 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | UNC93B1 CL E G H | 81622 | 13481 | ORPHA:1930 | Herpes simplex virus encephalitis | HP:0040283 - Occasional | | | 5 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | | | | 104 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | | | | 10 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | WARS1 CL E G H | 7453 | 12729 | OMIM:617721 | Neuronopathy, distal hereditary motor, type IX | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | | | | 2 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | | | | 83 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | WDR48 CL E G H | 57599 | 30914 | ORPHA:401800 | Autosomal recessive spastic paraplegia type 60 | | | | 1 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 149 | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0004302 | HP:0004302 | Functional motor deficit | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | AARS1 CL E G H | 16 | 20 | OMIM:619661 | LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2 | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | ABCC8 CL E G H | 6833 | 59 | OMIM:618857 | DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3 | | | | 245 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040283 - Occasional | | | 135 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ABHD5 CL E G H | 51099 | 21396 | ORPHA:98907 | Neutral lipid storage disease with ichthyosis | HP:0040282 - Frequent | | | 90 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 116 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ADCY5 CL E G H | 111 | 236 | OMIM:619647 | DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR | | | | 25 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ADCY5 CL E G H | 111 | 236 | ORPHA:324588 | Familial dyskinesia and facial myokymia | HP:0040282 - Frequent | | | 25 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | AGK CL E G H | 55750 | 21869 | OMIM:212350 | Sengers syndrome | . | | | 82 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | AGRN CL E G H | 375790 | 329 | OMIM:615120 | Myasthenic syndrome, congenital, 8 | . | | | 127 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | AGRN CL E G H | 375790 | 329 | OMIM:615120 | Myasthenic syndrome, congenital, 8 | | | | 127 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | ALG14 CL E G H | 199857 | 28287 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 12 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:616227 | Myasthenic syndrome, congenital, 15 | | | | 12 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:616227 | Myasthenic syndrome, congenital, 15 | . | | | 12 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | ALG2 CL E G H | 85365 | 23159 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 46 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 114 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | HP:0040282 - Frequent | | | 304 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | HP:0040282 - Frequent | | | 304 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | . | | | 304 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | ANO5 CL E G H | 203859 | 27337 | OMIM:613319 | Miyoshi muscular dystrophy 3 | . | | | 304 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 49 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 48 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 41 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 18 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | . | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ARL6IP1 CL E G H | 23204 | 697 | ORPHA:401780 | Autosomal recessive spastic paraplegia type 61 | HP:0040282 - Frequent | | | 1 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 253 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 253 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 253 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 253 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ARSI CL E G H | 340075 | 32521 | ORPHA:401815 | Autosomal recessive spastic paraplegia type 66 | HP:0040282 - Frequent | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ASAH1 CL E G H | 427 | 735 | OMIM:159950 | Spinal muscular atrophy with progressive myoclonic epilepsy | . | | | 78 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | HP:0040282 - Frequent | | | 78 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | HP:0040282 - Frequent | | | 78 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | HP:0040284 - Very rare | | | 71 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040281 - Very frequent | | | 100 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040282 - Frequent | | | 100 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | ATP13A3 CL E G H | 79572 | 24113 | OMIM:265400 | Pulmonary hypertension, primary, autosomal recessive | . | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 239 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 150 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | ATP2A1 CL E G H | 487 | 811 | OMIM:601003 | BRODY MYOPATHY | | | | 80 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | . | | | 19 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | HP:0040282 - Frequent | | | 19 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ATP5MC3 CL E G H | 518 | 843 | OMIM:619681 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG | | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | . | | | 25 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | . | | | 25 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | BAG3 CL E G H | 9531 | 939 | OMIM:612954 | Myopathy, myofibrillar, 6 | . | | | 204 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | BICD2 CL E G H | 23299 | 17208 | ORPHA:363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | HP:0040282 - Frequent | | | 46 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | . | | | 46 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | HP:0040284 - Very rare | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | HP:0040281 - Very frequent | | | 114 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:289560 | Mitochondrial membrane protein-associated neurodegeneration | HP:0040282 - Frequent | | | 114 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 449 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 59 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CALR CL E G H | 811 | 1455 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | HP:0040282 - Frequent | | | 323 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | HP:0040283 - Occasional | | | 323 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | . | | | 323 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CASQ1 CL E G H | 844 | 1512 | OMIM:616231 | Myopathy, vacuolar, with CASQ1 aggregates | . | | | 5 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | CCDC78 CL E G H | 124093 | 14153 | OMIM:614807 | Myopathy, centronuclear, 4 | | | | 25 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CDK8 CL E G H | 1024 | 1779 | OMIM:618748 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615048 | Spinal muscular atrophy, Jokela type | . | | | 11 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | . | | | | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | . | | | 74 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 74 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | . | | | 53 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 53 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRND CL E G H | 1144 | 1965 | OMIM:616321 | Myasthenic syndrome, congenital, 3A, slow-channel | . | | | 88 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRND CL E G H | 1144 | 1965 | OMIM:616322 | Myasthenic syndrome, congenital, 3B, fast-channel | . | | | 88 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 88 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:616324 | Myasthenic syndrome, congenital, 4B, fast-channel | . | | | 139 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 139 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | HP:0040282 - Frequent | | | 16 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040283 - Occasional | | | 111 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 18 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | COASY CL E G H | 80347 | 29932 | ORPHA:397725 | COASY protein-associated neurodegeneration | HP:0040281 - Very frequent | | | 16 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616471 | Bethlem myopathy 2 | . | | | 65 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 65 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 442 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 442 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 478 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 478 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 702 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 702 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 90 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | COLQ CL E G H | 8292 | 2226 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 90 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040282 - Frequent | | | 54 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | HP:0040282 - Frequent | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CPT1C CL E G H | 126129 | 18540 | OMIM:616282 | Spastic paraplegia 73, autosomal dominant | . | | | 1 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | HP:0040283 - Occasional | | | 46 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040282 - Frequent | | | 41 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040282 - Frequent | | | 5 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | DAB1 CL E G H | 1600 | 2661 | OMIM:615945 | Spinocerebellar ataxia 37 | . | | | 4 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:280333 | Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 | HP:0040282 - Frequent | | | 108 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | . | | | 108 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DAG1 CL E G H | 1605 | 2666 | OMIM:613818 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | | | | 108 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | 36 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | . | | | 35 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DDX6 CL E G H | 1656 | 2747 | OMIM:618653 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | HP:0040282 - Frequent | | | 263 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 47 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | . | | | 12 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040281 - Very frequent | | | 82 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | HP:0040281 - Very frequent | | | 1496 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:98895 | Becker muscular dystrophy | HP:0040281 - Very frequent | | | 1496 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DMD CL E G H | 1756 | 2928 | OMIM:310200 | Duchenne muscular dystrophy | | | | 1496 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DNAJB6 CL E G H | 10049 | 14888 | ORPHA:34516 | DNAJB6-related limb-girdle muscular dystrophy D1 | HP:0040282 - Frequent | | | 103 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | . | | | 103 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | DNAJB6 CL E G H | 10049 | 14888 | OMIM:603511 | Muscular dystrophy, limb-girdle, type 1E | | | | 103 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DNM1 CL E G H | 1759 | 2972 | OMIM:616346 | Epileptic encephalopathy, early infantile, 31 | . | | | 72 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 72 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DNM1L CL E G H | 10059 | 2973 | ORPHA:330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040283 - Occasional | | | 94 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | . | | | 167 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | . | | | 91 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 91 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 38 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040283 - Occasional | | | 65 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040283 - Occasional | | | 65 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | . | | | 427 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | . | | | 427 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | . | | | 427 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040283 - Occasional | | | 600 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040283 - Occasional | | | 600 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | . | | | 600 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | . | | | 600 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | DYSF CL E G H | 8291 | 3097 | OMIM:253601 | Muscular dystrophy, limb-girdle, type 2B | . | | | 600 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 60 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | EIF2AK3 CL E G H | 9451 | 3255 | ORPHA:1667 | Wolcott-Rallison syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | . | | | 8 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ELOVL5 CL E G H | 60481 | 21308 | ORPHA:423296 | Spinocerebellar ataxia type 38 | HP:0040281 - Very frequent | | | 4 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 20 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 158 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 199 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 199 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040282 - Frequent | | | 199 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040282 - Frequent | | | 55 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040282 - Frequent | | | 55 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040282 - Frequent | | | 55 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ERLIN1 CL E G H | 10613 | 16947 | ORPHA:401785 | Autosomal recessive spastic paraplegia type 62 | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ERLIN1 CL E G H | 10613 | 16947 | OMIM:615681 | Spastic paraplegia 62, autosomal recessive | | | | 2 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040282 - Frequent | | | 76 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040281 - Very frequent | | | 76 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FDX2 CL E G H | 112812 | 30546 | OMIM:251900 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | . | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040282 - Frequent | | | 47 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | | | | 68 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | . | | | 68 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:611228 | Charcot-Marie-Tooth disease, type 4J | . | | | 111 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040282 - Frequent | | | 13 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | HP:0040283 - Occasional | | | 157 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | HP:0040283 - Occasional | | | 157 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:34515 | FKRP-related limb-girdle muscular dystrophy R9 | HP:0040283 - Occasional | | | 157 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:607155 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | . | | | 157 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040281 - Very frequent | | | 197 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040282 - Frequent | | | 197 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | FLNC CL E G H | 2318 | 3756 | OMIM:609524 | Filaminopathy, autosomal dominant | . | | | 197 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FLRT1 CL E G H | 23769 | 3760 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040282 - Frequent | | | 33 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040283 - Occasional | | | 3 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0033235 | Difficulty descending stairs | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 4 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GABRB2 CL E G H | 2561 | 4082 | OMIM:617829 | Epileptic encephalopathy, infantile or early childhood, 2 | . | | | 44 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 44 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 139 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040281 - Very frequent | | | 121 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040281 - Very frequent | | | 30 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | . | | | | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | GFPT1 CL E G H | 2673 | 4241 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 128 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | GFPT1 CL E G H | 2673 | 4241 | OMIM:610542 | Myasthenic syndrome, congenital, with tubular aggregates 1 | . | | | 128 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 8 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | . | | | 107 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040282 - Frequent | | | 107 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GJC2 CL E G H | 57165 | 17494 | ORPHA:320401 | Autosomal recessive spastic paraplegia type 44 | HP:0040282 - Frequent | | | 37 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GLRA1 CL E G H | 2741 | 4326 | OMIM:149400 | Hyperekplexia 1 | . | | | 63 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:353327 | Congenital myasthenic syndromes with glycosylation defect | HP:0040283 - Occasional | | | 34 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040282 - Frequent | | | 34 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040283 - Occasional | | | 34 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GOSR2 CL E G H | 9570 | 4431 | OMIM:614018 | Epilepsy, progressive myoclonic, 6 | . | | | 88 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GPHN CL E G H | 10243 | 15465 | OMIM:149400 | Hyperekplexia 1 | . | | | 18 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GPT2 CL E G H | 84706 | 18062 | ORPHA:477673 | Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GRID2 CL E G H | 2895 | 4576 | ORPHA:363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040283 - Occasional | | | 434 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:98818 | Landau-Kleffner syndrome | HP:0040283 - Occasional | | | 434 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | GRM1 CL E G H | 2911 | 4593 | ORPHA:324262 | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | HP:0040281 - Very frequent | | | 8 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | GRM1 CL E G H | 2911 | 4593 | OMIM:617691 | SPINOCEREBELLAR ATAXIA 44; SCA44 | | | | 8 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | GTPBP3 CL E G H | 84705 | 14880 | ORPHA:444013 | Combined oxidative phosphorylation defect type 23 | HP:0040283 - Occasional | | | 30 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | . | | | 18 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040282 - Frequent | | | 12 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040282 - Frequent | | | 11 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:605285 | Neuropathy, hereditary motor and sensory, Russe type | . | | | 11 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040283 - Occasional | | | 8 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040283 - Occasional | | | 8 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | HPCA CL E G H | 3208 | 5144 | ORPHA:99657 | Primary dystonia, DYT2 type | HP:0040282 - Frequent | | | 4 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | HSPB1 CL E G H | 3315 | 5246 | OMIM:608634 | Neuronopathy, distal hereditary motor, type IIB | . | | | 47 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | . | | | 13 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | HP:0040282 - Frequent | | | 16 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 127 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 57 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | . | | | 80 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | . | | | 80 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040282 - Frequent | | | 17 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040282 - Frequent | | | 17 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040281 - Very frequent | | | 35 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040283 - Occasional | | | 121 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040282 - Frequent | | | 38 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | . | | | 38 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KLC2 CL E G H | 64837 | 20716 | ORPHA:320406 | Spastic paraplegia-optic atrophy-neuropathy syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KLHL9 CL E G H | 55958 | 18732 | ORPHA:399081 | KLHL9-related early-onset distal myopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 92 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | LAMB2 CL E G H | 3913 | 6487 | ORPHA:98915 | Synaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 92 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040282 - Frequent | | | 35 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | | | | 7 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | LRIF1 CL E G H | 55791 | 30299 | OMIM:619477 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3 | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | . | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | LRP4 CL E G H | 4038 | 6696 | OMIM:616304 | Myasthenic syndrome, congenital, 17 | . | | | 124 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 124 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 221 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | LYSET CL E G H | 26175 | 20218 | OMIM:619345 | DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN | | | | | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:617760 | Myopathy, centronuclear, 6, with fiber-type disproportion | . | | | 2 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240103 | Progressive supranuclear palsy-corticobasal syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | . | HP:0003581 - Adult onset | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040283 - Occasional | | | 32 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MATR3 CL E G H | 9782 | 6912 | ORPHA:600 | Vocal cord and pharyngeal distal myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:778 | Rett syndrome | HP:0040282 - Frequent | | | 950 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040282 - Frequent | | | 203 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040282 - Frequent | | | 203 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040282 - Frequent | | | 203 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | . | | | 203 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | . | | | 11 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | . | | | 14 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | . | | | 14 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MICU1 CL E G H | 10367 | 1530 | ORPHA:401768 | Proximal myopathy with extrapyramidal signs | HP:0040282 - Frequent | | | 14 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | MIEF2 CL E G H | 125170 | 17920 | OMIM:619024 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49 | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040282 - Frequent | | | 8 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040282 - Frequent | | | 8 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | . | | | 8 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 97 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040283 - Occasional | | | 532 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | . | | | 7 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | MTPAP CL E G H | 55149 | 25532 | ORPHA:254343 | Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | . | | | | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MUSK CL E G H | 4593 | 7525 | OMIM:616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | . | | | 72 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 72 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040282 - Frequent | | | 1269 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:608358 | Myopathy, myosin storage | | | | 1269 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 131 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MYO1H CL E G H | 283446 | 13879 | OMIM:619482 | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2 | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | HP:0040282 - Frequent | | | 75 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | HP:0040282 - Frequent | | | 75 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:98911 | Distal myotilinopathy | HP:0040281 - Very frequent | | | 75 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 217 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | . | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NDUFS8 CL E G H | 4728 | 7715 | OMIM:618222 | Mitochondrial complex I deficiency, nuclear type 2 | . | | | 42 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | . | | | 24 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040282 - Frequent | | | 118 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | NFE2L2 CL E G H | 4780 | 7782 | OMIM:617744 | Immunodeficiency, developmental delay, and hypohomocysteinemia | | | | 20 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:118700 | Chorea, benign hereditary | | | | 51 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | . | | | 51 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | NOL3 CL E G H | 8996 | 7869 | OMIM:614937 | Myoclonus, familial cortical | . | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040282 - Frequent | | | 9 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NPR3 CL E G H | 4883 | 7945 | OMIM:619543 | BOUDIN-MORTIER SYNDROME; BOMOS | | | | | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040282 - Frequent | | | 97 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 8 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NUBPL CL E G H | 80224 | 20278 | OMIM:618242 | Mitochondrial complex I deficiency, nuclear type 21 | . | | | 89 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 7 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:612782 | Immunodeficiency 9 | . | | | 19 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | HP:0040284 - Very rare | | | 55 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216866 | Classic pantothenate kinase-associated neurodegeneration | HP:0040282 - Frequent | | | 55 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PDE10A CL E G H | 10846 | 8772 | OMIM:616921 | Dyskinesia, limb and orofacial, infantile-onset | . | | | 5 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PDE10A CL E G H | 10846 | 8772 | ORPHA:494526 | Infantile-onset generalized dyskinesia with orofacial involvement | HP:0040282 - Frequent | | | 5 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | HP:0040281 - Very frequent | | | 4 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PGAP1 CL E G H | 80055 | 25712 | ORPHA:401820 | Autosomal recessive spastic paraplegia type 67 | HP:0040282 - Frequent | | | 20 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | . | | | 11 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040282 - Frequent | | | 107 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | PLEC CL E G H | 5339 | 9069 | OMIM:613723 | Muscular dystrophy, limb-girdle, type 2Q | . | | | 759 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040282 - Frequent | | | 759 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040282 - Frequent | | | 759 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | . | | | 186 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | PLEKHG5 CL E G H | 57449 | 29105 | OMIM:611067 | Spinal muscular atrophy, distal, autosomal recessive, 4 | . | | | 186 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280234 | Null syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280229 | Pelizaeus-Merzbacher disease in female carriers | HP:0040283 - Occasional | | | 60 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | HP:0040282 - Frequent | | | 60 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280210 | Pelizaeus-Merzbacher disease, connatal form | HP:0040283 - Occasional | | | 60 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | . | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | . | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040281 - Very frequent | | | 79 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040283 - Occasional | | | 79 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | PNPLA2 CL E G H | 57104 | 30802 | OMIM:610717 | Neutral lipid storage disease with myopathy | . | | | 65 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613157 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | . | | | 180 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | POMK CL E G H | 84197 | 26267 | OMIM:616094 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | . | | | 18 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | . | | | 213 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | . | | | 213 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:609308 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | . | | | 213 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040281 - Very frequent | | | 213 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040281 - Very frequent | | | 213 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040283 - Occasional | | | 213 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040282 - Frequent | | | 221 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040282 - Frequent | | | 221 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:615 | Familial atrial myxoma | HP:0040282 - Frequent | | | 134 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | . | | | 170 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 81 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040282 - Frequent | | | 81 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040282 - Frequent | | | 81 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309256 | Metachromatic leukodystrophy, late infantile form | HP:0040282 - Frequent | | | 81 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | PYCR2 CL E G H | 29920 | 30262 | ORPHA:481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | . | | | | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | 9 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | . | | | 73 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 73 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040282 - Frequent | | | 87 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040282 - Frequent | | | 87 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040282 - Frequent | | | 3 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040281 - Very frequent | | | 25 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040282 - Frequent | | | 1200 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:424107 | Congenital myopathy with myasthenic-like onset | HP:0040282 - Frequent | | | 1200 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:178145 | Moderate multiminicore disease with hand involvement | HP:0040282 - Frequent | | | 1200 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | . | | | 180 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 70 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SCN4A CL E G H | 6329 | 10591 | OMIM:614198 | Myasthenic syndrome, congenital, 16 | . | | | 263 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 263 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 357 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SCO2 CL E G H | 9997 | 10604 | ORPHA:521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | HP:0040282 - Frequent | | | 40 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | . | | | 5 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 304 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 304 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 16 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 16 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 237 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 237 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040283 - Occasional | | | 129 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040282 - Frequent | | | 129 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 144 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SETX CL E G H | 23064 | 445 | OMIM:602433 | Amyotrophic lateral sclerosis 4, juvenile | . | | | 162 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | HP:0040282 - Frequent | | | 132 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SGCA CL E G H | 6442 | 10805 | ORPHA:62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | HP:0040282 - Frequent | | | 132 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SGCB CL E G H | 6443 | 10806 | ORPHA:119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | HP:0040282 - Frequent | | | 113 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | | | | 223 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SGCD CL E G H | 6444 | 10807 | OMIM:601287 | Muscular dystrophy, limb-girdle, type 2F | . | | | 223 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040282 - Frequent | | | 493 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040281 - Very frequent | | | 493 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 6 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC18A3 CL E G H | 6572 | 10936 | OMIM:617239 | Myasthenic syndrome, congenital, 21, presynaptic | . | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | . | | | 28 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:618197 | Myasthenic syndrome, congenital, 23, presynaptic | . | | | 28 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC25A19 CL E G H | 60386 | 14409 | OMIM:613710 | Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type) | . | | | 36 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SLC25A4 CL E G H | 291 | 10990 | OMIM:615418 | Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type) | | | | 68 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC30A9 CL E G H | 10463 | 1329 | OMIM:617595 | Birk-Landau-Perez syndrome | . | | | 1 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC5A7 CL E G H | 60482 | 14025 | OMIM:158580 | Neuronopathy, distal hereditary motor, type VIIA | . | | | 9 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SLC7A6OS CL E G H | 84138 | 25807 | OMIM:619191 | EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12 | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040283 - Occasional | | | 19 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SNAP25 CL E G H | 6616 | 11132 | OMIM:616330 | Myasthenic syndrome, congenital, 18 | . | | | 2 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 65 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 20 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 20 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 287 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | HP:0040281 - Very frequent | | | 28 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 54 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | SPTLC1 CL E G H | 10558 | 11277 | OMIM:162400 | Neuropathy, hereditary sensory and autonomic, type IA | | | | 54 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | HP:0040282 - Frequent | | | 62 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | STIM1 CL E G H | 6786 | 11386 | OMIM:160565 | Myopathy, tubular aggregate, 1 | . | | | 31 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | STRADA CL E G H | 92335 | 30172 | OMIM:611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | . | | | 6 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 9 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SYT2 CL E G H | 127833 | 11510 | OMIM:616040 | Myasthenic syndrome, congenital, 7, presynaptic | . | | | 4 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 123 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040283 - Occasional | | | 21 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040283 - Occasional | | | 21 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | TDP2 CL E G H | 51567 | 17768 | OMIM:616949 | Spinocerebellar ataxia, autosomal recessive 23 | . | | | 3 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:824 | Primary myelofibrosis | HP:0040283 - Occasional | | | 3 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | TFG CL E G H | 10342 | 11758 | ORPHA:431329 | Autosomal recessive spastic paraplegia type 57 | HP:0040280 - Obligate | | | 18 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | TFG CL E G H | 10342 | 11758 | ORPHA:431329 | Autosomal recessive spastic paraplegia type 57 | HP:0040280 - Obligate | | | 18 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040282 - Frequent | | | 18 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | . | | | 58 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | HP:0040282 - Frequent | | | 58 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | HP:0040282 - Frequent | | | 5 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | TK2 CL E G H | 7084 | 11831 | ORPHA:254875 | Mitochondrial DNA depletion syndrome, myopathic form | HP:0040282 - Frequent | | | 103 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | TMEM126B CL E G H | 55863 | 30883 | OMIM:618250 | Mitochondrial complex I deficiency, nuclear type 29 | . | | | 4 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | TNPO3 CL E G H | 23534 | 17103 | OMIM:608423 | Muscular dystrophy, limb-girdle, autosomal dominant 2 | . | | | 71 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | TOR1AIP1 CL E G H | 26092 | 29456 | OMIM:617072 | Muscular dystrophy, limb-girdle, type 2Y | | | | 10 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | . | | | 54 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | . | | | 27 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369840 | TRAPPC11-related limb-girdle muscular dystrophy R18 | HP:0040282 - Frequent | | | 27 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | | | | 4 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040282 - Frequent | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | TRNE CL E G H | 4556 | 7479 | ORPHA:2596 | Myopathy and diabetes mellitus | HP:0040283 - Occasional | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040283 - Occasional | | | 214 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TTBK2 CL E G H | 146057 | 19141 | ORPHA:98767 | Spinocerebellar ataxia type 11 | HP:0040281 - Very frequent | | | 57 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | TTN CL E G H | 7273 | 12403 | OMIM:608807 | Muscular dystrophy, limb-girdle, autosomal recessive 10 | | | | 7128 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040282 - Frequent | | | 7128 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040281 - Very frequent | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:251282 | Autosomal dominant spastic ataxia type 1 | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0003388 | Easy fatigability | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | VPS13D CL E G H | 55187 | 23595 | OMIM:607317 | Spinocerebellar ataxia, autosomal recessive 4 | . | | | | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040282 - Frequent | | | 37 | | |
HP:0004302 | HP:0002359 | Frequent falls | 1 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | WARS1 CL E G H | 7453 | 12729 | OMIM:617721 | Neuronopathy, distal hereditary motor, type IX | . | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040282 - Frequent | | | 2 | | |
HP:0004302 | HP:0003698 | Difficulty standing | 1 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | HP:0040281 - Very frequent | | | 83 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | WDR48 CL E G H | 57599 | 30914 | ORPHA:401800 | Autosomal recessive spastic paraplegia type 60 | HP:0040282 - Frequent | | | 1 | | |
HP:0004302 | HP:0003551 | Difficulty climbing stairs | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 149 | | |
HP:0004302 | HP:0009046 | Difficulty running | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0004302 | HP:0002355 | Difficulty walking | 1 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |