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:0003690 | HP:0003690 | Limb muscle weakness | 0 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | . | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | | | | 135 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:618960 | MITCHELL SYNDROME; MITCH | | | | 120 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | | | | 96 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ACTN2 CL E G H | 88 | 164 | OMIM:618655 | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 | | | | 307 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 116 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | | | | 86 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 1 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ALAD CL E G H | 210 | 395 | ORPHA:100924 | Porphyria due to ALA dehydratase deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | AMPD1 CL E G H | 270 | 468 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | HP:0040281 - Very frequent | | | 62 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | AMPD3 CL E G H | 272 | 470 | ORPHA:45 | Adenosine monophosphate deaminase deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | | | | 304 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | | | | 165 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | | | | 165 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | AR CL E G H | 367 | 644 | OMIM:313200 | Spinal and bulbar muscular atrophy, X-linked 1 | . | | | 125 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | | | | 78 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | | | | 71 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 71 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | | | | 71 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 5 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ATP1A1 CL E G H | 476 | 799 | OMIM:618036 | Charcot-Marie-Tooth disease, axonal, type 2DD | | | | 4 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ATP5MC3 CL E G H | 518 | 843 | OMIM:619681 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | | | | 315 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | | | | 105 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 105 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | BVES CL E G H | 11149 | 1152 | OMIM:616812 | Muscular dystrophy, limb-girdle, autosomal recessive 25 | | | | 2 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 247 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CAPN1 CL E G H | 823 | 1476 | ORPHA:488594 | Autosomal recessive spastic paraplegia type 76 | | | | 4 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | | | | 323 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CCNF CL E G H | 899 | 1591 | OMIM:619141 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CD59 CL E G H | 966 | 1689 | OMIM:612300 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | . | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | | | | 11 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | | | | 11 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:608930 | Myasthenic syndrome, congenital, 1B, fast-channel | | | | 74 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 74 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHRNB1 CL E G H | 1140 | 1961 | OMIM:616313 | Myasthenic syndrome, congenital, 2A, slow-channel | | | | 53 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 53 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 88 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:605809 | Myasthenic syndrome, congenital, 4A, slow-channel | . | | | 139 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 139 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | | | | 65 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | | | | 442 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | | | | 478 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | | | | 702 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COLQ CL E G H | 8292 | 2226 | OMIM:603034 | Myasthenic syndrome, congenital, 5 | . | | | 90 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | COX6A1 CL E G H | 1337 | 2277 | OMIM:616039 | Charcot-Marie-Tooth disease, recessive intermediate D | | | | 4 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | | | | 72 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | | | | 1 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | | | | 46 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | | | | 46 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | | | | 57 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DCTN1 CL E G H | 1639 | 2711 | OMIM:607641 | Neuronopathy, distal hereditary motor, type VIIB | | | | 86 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DDHD1 CL E G H | 80821 | 19714 | ORPHA:101008 | Autosomal recessive spastic paraplegia type 28 | | | | 35 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | | | | 35 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | | | | 263 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DES CL E G H | 1674 | 2770 | OMIM:181400 | Scapuloperoneal syndrome, neurogenic, Kaeser type | | | | 263 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | | | | 57 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | | | | 12 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DNAJB2 CL E G H | 3300 | 5228 | OMIM:614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | | | | 30 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:619478 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4 | | | | 79 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 91 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | | | | 13 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614228 | Charcot-marie-tooth disease, axonal, type 2O | . | | | 427 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | | | | 427 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | | | | 600 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | | | | 600 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | | | | 600 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | | | | 600 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:607678 | Charcot-Marie-Tooth disease, demyelinating, type 1D | | | | 58 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | | | | 58 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | EMILIN1 CL E G H | 11117 | 19880 | OMIM:620080 | | | | | 2 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ERLIN2 CL E G H | 11160 | 1356 | OMIM:611225 | Spastic paraplegia 18, autosomal recessive | | | | 18 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | | | | 68 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | | | | 8 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | | | | 197 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GAA CL E G H | 2548 | 4065 | OMIM:232300 | Glycogen storage disease II | | | | 407 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | | | | 160 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | | | | 160 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040283 - Occasional | | | 121 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GARS1 CL E G H | 2617 | 4162 | OMIM:619042 | SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:608340 | Charcot-Marie-Tooth disease, recessive intermediate A | . | | | 108 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363722 | Alexander disease type II | | | | 188 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | | | | 107 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | | | | 34 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | | | | 173 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | | | | 173 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GYG1 CL E G H | 2992 | 4699 | ORPHA:263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | | | | 18 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | | | | 12 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | | | | 47 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | | | | 47 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HSPB1 CL E G H | 3315 | 5246 | OMIM:608634 | Neuronopathy, distal hereditary motor, type IIB | | | | 47 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | | | | 13 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HSPB8 CL E G H | 26353 | 30171 | OMIM:158590 | Neuronopathy, distal hereditary motor, type IIA | | | | 38 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | | | | 46 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | | | | 46 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | | | | 209 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | | | | 135 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 80 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KBTBD13 CL E G H | 390594 | 37227 | OMIM:609273 | Nemaline myopathy 6 | . | | | 80 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | | | | 121 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | | | | 10 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | | | | 276 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | . | | | 202 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | | | | 93 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | | | | 93 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:306617 | X-linked complicated spastic paraplegia type 1 | | | | 134 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | | | | 286 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 1 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | | | | 7 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | | | | 7 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | | | | 645 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 124 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | | | | 102 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | | | | 140 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | | | | 80 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | | | | 203 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | . | | | 203 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MFN2 CL E G H | 9927 | 16877 | OMIM:601152 | Hereditary motor and sensory neuropathy VI | . | | | 203 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MME CL E G H | 4311 | 7154 | OMIM:617017 | Charcot-Marie-Tooth disease, axonal, type 2T | | | | 18 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | | | | 18 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | | | | 56 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607677 | Charcot-Marie-Tooth disease, axonal, type 2I | | | | 134 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607791 | Charcot-Marie-Tooth disease, dominant intermediate D | | | | 134 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | | | | 134 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | . | HP:0003584 - Late onset | | 85 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | | | | 183 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 72 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | | | | 227 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | | | | 1269 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | | 1269 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | | | | 1269 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | | | | 75 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | | | | 217 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 217 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | | | | 82 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:399103 | Distal nebulin myopathy | | | | 745 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | | | | 118 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | | | | 1952 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | | | | 220 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | | | | 117 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | | | | 7 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | | | | 19 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PABPN1 CL E G H | 8106 | 8565 | OMIM:164300 | Oculopharyngeal muscular dystrophy | . | | | 10 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | | | | 4 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:266500 | Refsum disease | . | | | 72 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PHYH CL E G H | 5264 | 8940 | OMIM:266500 | Refsum disease | . | | | 45 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312920 | Spastic paraplegia 2, X-linked | | | | 60 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | | | | 79 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | . | | | 79 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:459033 | Ataxia-oculomotor apraxia type 4 | | | | 244 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | | | | 65 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:612020 | Spastic paraplegia 39, autosomal recessive | | | | 103 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:617232 | Muscular dystrophy, limb-girdle, type 2Z | | | | 6 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 464 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | POLG CL E G H | 5428 | 9179 | OMIM:157640 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | . | | | 464 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | . | | | 45 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | | | | 213 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | | | | 40 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | | | | 41 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | | | | 69 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:356 | Gerstmann-Straussler-Scheinker syndrome | | | | 69 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PRX CL E G H | 57716 | 13797 | OMIM:614895 | Charcot-Marie-Tooth disease, demyelinating, type 4F | . | | | 170 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | PYROXD1 CL E G H | 79912 | 26162 | OMIM:617258 | MYOPATHY, MYOFIBRILLAR, 8; MFM8 | | | | 5 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | | | | 150 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 73 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | | | | 88 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | | | | 87 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 87 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | REEP1 CL E G H | 65055 | 25786 | OMIM:610250 | Spastic paraplegia 31, autosomal dominant | | | | 87 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040281 - Very frequent | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040281 - Very frequent | | | 125 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 125 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | 25 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | | | | 25 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | | | | 4 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | . | | | 16 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | | | | 180 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 263 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:521411 | Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect | | | | 40 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | | | | 83 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | | | | 493 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | | | | 493 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:614373 | Amyotrophic lateral sclerosis 16, juvenile | . | | | 6 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | | | | 6 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:218000 | Agenesis of the corpus callosum with peripheral neuropathy | . | | | 163 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SLC33A1 CL E G H | 9197 | 95 | ORPHA:171863 | Autosomal dominant spastic paraplegia type 42 | | | | 48 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | . | | | 47 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:619903 | | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | | | | 174 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | | | | 22 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | | | | 66 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | | | | 66 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | | | | 208 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | | | | 208 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | | | | 287 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | | | | 287 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | | | | 28 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPG21 CL E G H | 51324 | 20373 | OMIM:248900 | Mast syndrome | | | | 28 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | | | | 171 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 54 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | | | | 149 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | | | | 62 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:616040 | Myasthenic syndrome, congenital, 7, presynaptic | | | | 4 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | | | | 52 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | | | | 78 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | | | | 52 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | | | | 18 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TIA1 CL E G H | 7072 | 11802 | OMIM:619133 | AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26 | | | | 5 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | | | | 5 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | | | | 54 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | . | | | 54 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | | | | 108 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | | | | 108 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:1878 | TRIM32-related limb-girdle muscular dystrophy R8 | | | | 108 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TRIP4 CL E G H | 9325 | 12310 | ORPHA:486815 | Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | | | | 214 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | | | | 214 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | | | | 7128 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | | | | 7128 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | | | | 138 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | | | | 63 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 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:0003690 | HP:0003690 | Limb muscle weakness | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | | | | 10 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | VPS13A CL E G H | 23230 | 1908 | OMIM:200150 | CHOREOACANTHOCYTOSIS | . | | | 130 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | | | | 83 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | | | | 83 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | | | | | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | | | | 189 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | | | | 189 | | |
HP:0003690 | HP:0003690 | Limb muscle weakness | 0 | ZFYVE27 CL E G H | 118813 | 26559 | OMIM:610244 | Spastic paraplegia 33, autosomal dominant | | | | 52 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | . | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | AARS1 CL E G H | 16 | 20 | OMIM:613287 | Charcot-Marie-Tooth disease, axonal, type 2N | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | | | | 135 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | | | | 96 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | | | | 96 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ACTN2 CL E G H | 88 | 164 | OMIM:618655 | MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6 | | | | 307 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 116 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | ADAR CL E G H | 103 | 225 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 116 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 1 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | HP:0040283 - Occasional | | | 89 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040281 - Very frequent | | | 304 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | | | | 304 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | | | | 304 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | | | | 304 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | HP:0040282 - Frequent | | | 165 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ASAH1 CL E G H | 427 | 735 | ORPHA:2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | HP:0040281 - Very frequent | | | 78 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | | | | 71 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ATL1 CL E G H | 51062 | 11231 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 71 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ATL1 CL E G H | 51062 | 11231 | OMIM:182600 | Spastic paraplegia 3, autosomal dominant | . | | | 71 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ATL3 CL E G H | 25923 | 24526 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 5 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ATP1A1 CL E G H | 476 | 799 | OMIM:618036 | Charcot-Marie-Tooth disease, axonal, type 2DD | . | | | 4 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ATP5MC3 CL E G H | 518 | 843 | OMIM:619681 | DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | | | | | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | ATP7B CL E G H | 540 | 870 | ORPHA:905 | Wilson disease | HP:0040281 - Very frequent | | | 315 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | HP:0040282 - Frequent | | | 105 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 105 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 105 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | . | | | 105 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CACNA1S CL E G H | 779 | 1397 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 247 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CAPN1 CL E G H | 823 | 1476 | ORPHA:488594 | Autosomal recessive spastic paraplegia type 76 | HP:0040282 - Frequent | | | 4 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CAPN1 CL E G H | 823 | 1476 | OMIM:616907 | SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76 | | | | 4 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CAPN3 CL E G H | 825 | 1480 | ORPHA:267 | Calpain-3-related limb-girdle muscular dystrophy R1 | HP:0040282 - Frequent | | | 323 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CAPN3 CL E G H | 825 | 1480 | OMIM:253600 | Muscular dystrophy, limb-girdle, type 2A | | | | 323 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | . | | | 11 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | | | | 1 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 35 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | HP:0040282 - Frequent | | | 11 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | | | | 11 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | | | | 11 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040282 - Frequent | | | 11 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | | | | 11 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:616209 | Myopathy, isolated mitochondrial, autosomal dominant | . | | | 11 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:601462 | Myasthenic syndrome, congenital, 1A, slow-channel | | | | 74 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 74 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 53 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 88 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 139 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | . | | | | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | | | | 65 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | 3 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | 3 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | | | | 442 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 442 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | | | | 478 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 478 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | | | | 702 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040283 - Occasional | | | 702 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | COX6A1 CL E G H | 1337 | 2277 | OMIM:616039 | Charcot-Marie-Tooth disease, recessive intermediate D | . | | | 4 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040282 - Frequent | | | 72 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | | | | 72 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | | | | 1 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | | | | | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | CRYAB CL E G H | 1410 | 2389 | ORPHA:399058 | Alpha-B crystallin-related late-onset myopathy | HP:0040282 - Frequent | | | 46 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | CRYAB CL E G H | 1410 | 2389 | OMIM:608810 | Myopathy, myofibrillar, 2, mfm2 | . | | | 46 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | HP:0040284 - Very rare | | | 57 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CYP7B1 CL E G H | 9420 | 2652 | ORPHA:100986 | Autosomal recessive spastic paraplegia type 5A | HP:0040281 - Very frequent | | | 57 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | . | | | 57 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DCTN1 CL E G H | 1639 | 2711 | OMIM:607641 | Neuronopathy, distal hereditary motor, type VIIB | . | | | 86 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DDHD1 CL E G H | 80821 | 19714 | ORPHA:101008 | Autosomal recessive spastic paraplegia type 28 | HP:0040282 - Frequent | | | 35 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DDHD1 CL E G H | 80821 | 19714 | OMIM:609340 | Spastic paraplegia 28, autosomal recessive | . | | | 35 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | . | | | 29 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | | | | 263 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | DES CL E G H | 1674 | 2770 | OMIM:181400 | Scapuloperoneal syndrome, neurogenic, Kaeser type | . | | | 263 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DGUOK CL E G H | 1716 | 2858 | ORPHA:329314 | Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | HP:0040282 - Frequent | | | 57 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | | | | 12 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | DNAJB2 CL E G H | 3300 | 5228 | OMIM:614881 | Spinal muscular atrophy, distal, autosomal recessive, 5 | . | | | 30 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | DNMT3B CL E G H | 1789 | 2979 | OMIM:619478 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4 | | | | 79 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 91 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | . | | | 13 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:158600 | Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant | . | | | 427 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | | | | 600 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040282 - Frequent | | | 600 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | | | | 600 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040282 - Frequent | | | 600 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DYSF CL E G H | 8291 | 3097 | OMIM:254130 | Miyoshi muscular dystrophy 1 | . | | | 600 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | | | | 600 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | | | | 600 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040283 - Occasional | | | 600 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:607678 | Charcot-Marie-Tooth disease, demyelinating, type 1D | . | | | 58 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:607678 | Charcot-Marie-Tooth disease, demyelinating, type 1D | . | | | 58 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 58 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | EGR2 CL E G H | 1959 | 3239 | OMIM:605253 | Neuropathy, congenital hypomyelinating, 1, autosomal recessive | . | | | 58 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | EMILIN1 CL E G H | 11117 | 19880 | OMIM:620080 | | | | | 2 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ERLIN2 CL E G H | 11160 | 1356 | OMIM:611225 | Spastic paraplegia 18, autosomal recessive | . | | | 18 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040281 - Very frequent | | | 76 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | . | | | 1 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | . | | | 158 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | . | | | 68 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300695 | Scapuloperoneal myopathy, X-linked dominant | . | | | 68 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040283 - Occasional | | | 8 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040282 - Frequent | | | 197 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | | | | 197 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040283 - Occasional | | | 197 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:1136 | Arnold-Chiari malformation type II | HP:0040283 - Occasional | | | 3 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GABRA3 CL E G H | 2556 | 4077 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206443 | Late-infantile/juvenile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | GARS1 CL E G H | 2617 | 4162 | OMIM:601472 | Charcot-Marie-Tooth disease, axonal, type 2D | . | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | GARS1 CL E G H | 2617 | 4162 | OMIM:600794 | Neuronopathy, distal hereditary motor, type VA | . | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GARS1 CL E G H | 2617 | 4162 | OMIM:619042 | SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | GBF1 CL E G H | 8729 | 4181 | OMIM:606483 | Charcot-Marie-Tooth disease, dominant intermediate A | . | | | | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | GDAP1 CL E G H | 54332 | 15968 | OMIM:608340 | Charcot-Marie-Tooth disease, recessive intermediate A | . | | | 108 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040283 - Occasional | | | 107 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | | | | 34 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040283 - Occasional | | | 34 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040281 - Very frequent | | | 173 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040281 - Very frequent | | | 173 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | | | | 173 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | GYG1 CL E G H | 2992 | 4699 | ORPHA:263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | GYG1 CL E G H | 2992 | 4699 | ORPHA:263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 99 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040282 - Frequent | | | 60 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | | | | | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309169 | Sandhoff disease, adult form | | | | 80 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | | | | 12 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040283 - Occasional | | | 12 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | HINT1 CL E G H | 3094 | 4912 | OMIM:137200 | Neuromyotonia and axonal neuropathy, autosomal recessive | . | | | 12 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | | | | 11 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | | | | 81 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | HNRNPA1 CL E G H | 3178 | 5031 | OMIM:615424 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 | | | | 31 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HSPB1 CL E G H | 3315 | 5246 | ORPHA:99940 | Autosomal dominant Charcot-Marie-Tooth disease type 2F | HP:0040281 - Very frequent | | | 47 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | HSPB1 CL E G H | 3315 | 5246 | OMIM:606595 | Charcot-Marie-Tooth disease, axonal, type 2F | . | | | 47 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HSPB1 CL E G H | 3315 | 5246 | OMIM:608634 | Neuronopathy, distal hereditary motor, type IIB | | | | 47 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | . | | | 13 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HSPB8 CL E G H | 26353 | 30171 | OMIM:158590 | Neuronopathy, distal hereditary motor, type IIA | | | | 38 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HSPD1 CL E G H | 3329 | 5261 | ORPHA:100994 | Autosomal dominant spastic paraplegia type 13 | HP:0040282 - Frequent | | | 46 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HSPD1 CL E G H | 3329 | 5261 | OMIM:605280 | Spastic paraplegia 13, autosomal dominant | . | | | 46 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | . | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | | | | 16 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:616155 | Charcot-Marie-Tooth disease, axonal, type 2S | . | | | 209 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | INF2 CL E G H | 64423 | 23791 | OMIM:614455 | Charcot-Marie-Tooth disease, dominant intermediate E | . | | | 135 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | KARS1 CL E G H | 3735 | 6215 | OMIM:613641 | Charcot-marie-tooth disease, recessive intermediate B | . | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040283 - Occasional | | | 121 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | KCNJ18 CL E G H | 100134444 | 39080 | ORPHA:79102 | Thyrotoxic periodic paralysis | HP:0040281 - Very frequent | | | 10 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | HP:0040282 - Frequent | | | 276 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | KIF1B CL E G H | 23095 | 16636 | OMIM:118210 | Charcot-Marie-Tooth disease, axonal, type 2A1 | . | | | 202 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | KIF5A CL E G H | 3798 | 6323 | ORPHA:100991 | Autosomal dominant spastic paraplegia type 10 | HP:0040282 - Frequent | | | 93 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | KIF5A CL E G H | 3798 | 6323 | OMIM:604187 | Spastic paraplegia 10, autosomal dominant | . | | | 93 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | KPNA3 CL E G H | 3839 | 6396 | ORPHA:171612 | Autosomal dominant spastic paraplegia type 37 | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | | | | 3 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | KY CL E G H | 339855 | 26576 | OMIM:617114 | MYOPATHY, MYOFIBRILLAR, 7; MFM7 | | | | 3 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | L1CAM CL E G H | 3897 | 6470 | ORPHA:306617 | X-linked complicated spastic paraplegia type 1 | HP:0040282 - Frequent | | | 134 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | | | | 286 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | HP:0040284 - Very rare | | | 286 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | LIG3 CL E G H | 3980 | 6600 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 1 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | | | | 7 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | LIPE CL E G H | 3991 | 6621 | OMIM:615980 | Lipodystrophy, familial partial, type 6 | | | | 7 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | | | | 645 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | . | | | 645 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | . | | | 645 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | | | | 645 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | | | | 645 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | LRP12 CL E G H | 29967 | 31708 | OMIM:164310 | Oculopharyngodistal myopathy 1 | . | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 124 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | LRSAM1 CL E G H | 90678 | 25135 | OMIM:614436 | Charcot-Marie-Tooth disease, axonal, type 2P | . | | | 102 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | . | | | 239 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | | | | 140 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MARS1 CL E G H | 4141 | 6898 | OMIM:616280 | Charcot-Marie-Tooth disease, axonal, type 2U | . | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | | | | 80 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MCM3AP CL E G H | 8888 | 6946 | OMIM:618124 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | . | | | 3 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040281 - Very frequent | | | 203 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | . | | | 203 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MFN2 CL E G H | 9927 | 16877 | OMIM:609260 | Charcot-marie-tooth disease, axonal, type 2A2A | . | | | 203 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | MLIP CL E G H | 90523 | 21355 | OMIM:620138 | | | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MME CL E G H | 4311 | 7154 | OMIM:617017 | Charcot-Marie-Tooth disease, axonal, type 2T | . | | | 18 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | | | | 18 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040282 - Frequent | | | 18 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | | | | 8 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040282 - Frequent | | | 8 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | . | | | 8 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MPV17 CL E G H | 4358 | 7224 | OMIM:618400 | Charcot-Marie-Tooth disease, axonal, type 2EE | . | | | 56 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:607677 | Charcot-Marie-Tooth disease, axonal, type 2I | . | | | 134 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | . | | | 134 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:607791 | Charcot-Marie-Tooth disease, dominant intermediate D | . | | | 134 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:607736 | Charcot-Marie-Tooth disease, type 2J | | | | 134 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 134 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MRPS2 CL E G H | 51116 | 14495 | OMIM:617950 | Combined oxidative phosphorylation deficiency 36 | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | HP:0040281 - Very frequent | | | 183 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040283 - Occasional | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:254930 | Combined oxidative phosphorylation defect type 7 | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MTRFR CL E G H | 91574 | 26784 | OMIM:615035 | Spastic paraplegia 55, autosomal recessive | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | | | | 81 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 72 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MYH14 CL E G H | 79784 | 23212 | ORPHA:397744 | Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome | HP:0040282 - Frequent | | | 227 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040281 - Very frequent | | | 1269 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:59135 | Laing early-onset distal myopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040283 - Occasional | | | 1269 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040281 - Very frequent | | | 1269 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | | 1269 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | | | | 1269 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | MYOT CL E G H | 9499 | 12399 | ORPHA:266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | HP:0040282 - Frequent | | | 75 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | | | | 82 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:399103 | Distal nebulin myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | NEFH CL E G H | 4744 | 7737 | OMIM:616924 | Charcot-Marie-Tooth disease, axonal, type 2CC | | | | 24 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040281 - Very frequent | | | 118 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:99939 | Autosomal dominant Charcot-Marie-Tooth disease type 2E | HP:0040281 - Very frequent | | | 118 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040282 - Frequent | | | 118 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040283 - Occasional | | | 118 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | | | | 118 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | . | | | 118 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162210 | Neurofibromatosis, familial spinal | . | | | 1952 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | | | | 220 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | NIPA1 CL E G H | 123606 | 17043 | OMIM:600363 | Spastic paraplegia 6, autosomal dominant | . | | | 117 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 7 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | NUP62 CL E G H | 23636 | 8066 | ORPHA:225154 | Familial infantile bilateral striatal necrosis | HP:0040283 - Occasional | | | 7 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | ORAI1 CL E G H | 84876 | 25896 | OMIM:615883 | Myopathy, tubular aggregate, 2 | . | | | 19 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PDK3 CL E G H | 5165 | 8811 | ORPHA:352675 | X-linked Charcot-Marie-Tooth disease type 6 | HP:0040281 - Very frequent | | | 4 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619621 | SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84 | | | | 11 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | | | | 759 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | | | | 105 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PLP1 CL E G H | 5354 | 9086 | OMIM:312920 | Spastic paraplegia 2, X-linked | . | | | 60 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | | | | 79 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:118300 | Charcot-Marie-Tooth disease and deafness | . | | | 79 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040282 - Frequent | | | 79 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | | | | 79 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 79 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:459033 | Ataxia-oculomotor apraxia type 4 | | | | 244 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | PNPLA2 CL E G H | 57104 | 30802 | ORPHA:98908 | Neutral lipid storage myopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:612020 | Spastic paraplegia 39, autosomal recessive | | | | 103 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | POGLUT1 CL E G H | 56983 | 22954 | OMIM:617232 | Muscular dystrophy, limb-girdle, type 2Z | . | | | 6 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 464 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | POLG CL E G H | 5428 | 9179 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 464 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 45 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | | | | 213 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | POPDC3 CL E G H | 64208 | 17649 | OMIM:618848 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26 | | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | | | | 41 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:356 | Gerstmann-Straussler-Scheinker syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 170 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | . | | | 50 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:477817 | PMP22-RAI1 contiguous gene duplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 73 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:101011 | Autosomal dominant spastic paraplegia type 31 | HP:0040281 - Very frequent | | | 87 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | | | | 87 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 87 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | REEP1 CL E G H | 65055 | 25786 | OMIM:610250 | Spastic paraplegia 31, autosomal dominant | . | | | 87 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 125 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | RTN2 CL E G H | 6253 | 10468 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040281 - Very frequent | | | 25 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | RTN2 CL E G H | 6253 | 10468 | OMIM:604805 | Spastic paraplegia 12, autosomal dominant | . | | | 25 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040283 - Occasional | | | 309 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | | | | 4 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | | | | 16 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | | | | 16 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | . | | | 180 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 263 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 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:0003690 | HP:0009027 | Foot dorsiflexor weakness | 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:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SGCG CL E G H | 6445 | 10809 | ORPHA:353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | HP:0040282 - Frequent | | | 83 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040282 - Frequent | | | 493 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SH3TC2 CL E G H | 79628 | 29427 | OMIM:601596 | Charcot-Marie-Tooth disease, type 4C | . | | | 493 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SIGMAR1 CL E G H | 10280 | 8157 | OMIM:605726 | Spinal muscular atrophy, distal, autosomal recessive, 2 | . | | | 6 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SLC25A21 CL E G H | 89874 | 14411 | OMIM:618811 | MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18 | | | | | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 68 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SLC33A1 CL E G H | 9197 | 95 | ORPHA:171863 | Autosomal dominant spastic paraplegia type 42 | HP:0040282 - Frequent | | | 48 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:619903 | | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SMCHD1 CL E G H | 23347 | 29090 | OMIM:158901 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2 | | | | 174 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | . | | | 22 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 22 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SMN2 CL E G H | 6607 | 11118 | OMIM:253400 | Spinal muscular atrophy, type III | | | | 1 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040282 - Frequent | | | 66 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SPAST CL E G H | 6683 | 11233 | ORPHA:100985 | Autosomal dominant spastic paraplegia type 4 | HP:0040282 - Frequent | | | 208 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SPAST CL E G H | 6683 | 11233 | OMIM:182601 | Spastic paraplegia 4, autosomal dominant | . | | | 208 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040281 - Very frequent | | | 287 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | . | | | 287 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | HP:0040282 - Frequent | | | 28 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SPG21 CL E G H | 51324 | 20373 | OMIM:248900 | Mast syndrome | . | | | 28 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | HP:0040282 - Frequent | | | 171 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | HP:0040283 - Occasional | | | 171 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 54 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SPTLC2 CL E G H | 9517 | 11278 | ORPHA:36386 | Hereditary sensory and autonomic neuropathy type 1 | HP:0040282 - Frequent | | | 149 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 62 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617158 | MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV | | | | 62 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 1129 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040282 - Frequent | | | 1129 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 508 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | SYT2 CL E G H | 127833 | 11510 | OMIM:616040 | Myasthenic syndrome, congenital, 7, presynaptic | | | | 4 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 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:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | | | | 78 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | | | | 78 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | | | | 52 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040281 - Very frequent | | | 18 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | TFG CL E G H | 10342 | 11758 | ORPHA:90117 | Hereditary motor and sensory neuropathy, Okinawa type | HP:0040281 - Very frequent | | | 18 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TIA1 CL E G H | 7072 | 11802 | ORPHA:603 | Distal myopathy, Welander type | HP:0040281 - Very frequent | | | 5 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | | | | 171 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040282 - Frequent | | | 54 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171881 | Cap myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | | | | 108 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | | | | 108 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:1878 | TRIM32-related limb-girdle muscular dystrophy R8 | HP:0040281 - Very frequent | | | 108 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | . | | | 214 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | | | | 214 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | | | | 214 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | | | | 7128 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | HP:0040282 - Frequent | | | 7128 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040282 - Frequent | | | 7128 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040283 - Occasional | | | 7128 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | | | | 113 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | TYMP CL E G H | 1890 | 3148 | ORPHA:298 | Mitochondrial neurogastrointestinal encephalomyopathy | HP:0040282 - Frequent | | | 138 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | UBAP1 CL E G H | 51271 | 12461 | ORPHA:100993 | Autosomal dominant spastic paraplegia type 12 | HP:0040281 - Very frequent | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:329478 | Adult-onset distal myopathy due to VCP mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | | | | 490 | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | VMA21 CL E G H | 203547 | 22082 | OMIM:310440 | Myopathy, X-linked, with excessive autophagy | . | | | 10 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003690 | HP:0008994 | Proximal muscle weakness in lower limbs | 1 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003690 | HP:0009027 | Foot dorsiflexor weakness | 1 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:100989 | Autosomal dominant spastic paraplegia type 8 | HP:0040282 - Frequent | | | 83 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | WASHC5 CL E G H | 9897 | 28984 | OMIM:603563 | Spastic paraplegia 8, autosomal dominant | . | | | 83 | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:608323 | Charcot-Marie-Tooth disease, dominant intermediate C | . | | | | | |
HP:0003690 | HP:0003484 | Upper limb muscle weakness | 1 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040282 - Frequent | | | 189 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ZFYVE26 CL E G H | 23503 | 20761 | OMIM:270700 | Spastic paraplegia 15, autosomal recessive | . | | | 189 | | |
HP:0003690 | HP:0007340 | Lower limb muscle weakness | 1 | ZFYVE27 CL E G H | 118813 | 26559 | OMIM:610244 | Spastic paraplegia 33, autosomal dominant | . | | | 52 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040281 - Very frequent | | | 135 | | |
HP:0003690 | HP:0031189 | Wrist drop | 2 | ACTA1 CL E G H | 58 | 129 | OMIM:616852 | Myopathy, scapulohumeroperoneal | . | | | 96 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | | | | | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 1 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040281 - Very frequent | | | 304 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | ANO5 CL E G H | 203859 | 27337 | ORPHA:206549 | Anoctamin-5-related limb-girdle muscular dystrophy R12 | HP:0040282 - Frequent | | | 304 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | HP:0040281 - Very frequent | | | 304 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | ANO5 CL E G H | 203859 | 27337 | ORPHA:399096 | Distal anoctaminopathy | HP:0040283 - Occasional | | | 304 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | ANXA11 CL E G H | 311 | 535 | OMIM:619733 | INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA | | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | ATL1 CL E G H | 51062 | 11231 | ORPHA:100984 | Autosomal dominant spastic paraplegia type 3 | HP:0040281 - Very frequent | | | 71 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | ATP6 CL E G H | 4508 | 7414 | ORPHA:320360 | MT-ATP6-related mitochondrial spastic paraplegia | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | BICD2 CL E G H | 23299 | 17208 | OMIM:615290 | Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant | | | | 46 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 105 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | BSCL2 CL E G H | 26580 | 15832 | OMIM:619112 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C | | | | 105 | | |
HP:0003690 | HP:0031189 | Wrist drop | 2 | CADM3 CL E G H | 57863 | 17601 | OMIM:619519 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF | | | | 1 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 1 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 65 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | HP:0040282 - Frequent | | | 11 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance | HP:0040283 - Occasional | | | 11 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040281 - Very frequent | | | 11 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | CHCHD10 CL E G H | 400916 | 15559 | ORPHA:276435 | Lower motor neuron syndrome with late-adult onset | HP:0040283 - Occasional | | | 11 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 74 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 53 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 88 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 139 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 65 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 442 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 478 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:610 | Bethlem myopathy | HP:0040282 - Frequent | | | 702 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | COX1 CL E G H | 4512 | 7419 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | COX3 CL E G H | 4514 | 7422 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | CPOX CL E G H | 1371 | 2321 | ORPHA:79273 | Hereditary coproporphyria | HP:0040282 - Frequent | | | 72 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | CPT1C CL E G H | 126129 | 18540 | ORPHA:444099 | Autosomal dominant spastic paraplegia type 73 | HP:0040282 - Frequent | | | 1 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | CRPPA CL E G H | 729920 | 37276 | ORPHA:352479 | ISPD-related limb-girdle muscular dystrophy R20 | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | DDHD2 CL E G H | 23259 | 29106 | OMIM:615033 | Spastic paraplegia 54, autosomal recessive | | | | 29 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | DES CL E G H | 1674 | 2770 | ORPHA:98909 | Desminopathy | HP:0040281 - Very frequent | | | 263 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | DHTKD1 CL E G H | 55526 | 23537 | OMIM:615025 | Charcot-Marie-Tooth disease, axonal, type 2Q | | | | 12 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | DMD CL E G H | 1756 | 2928 | ORPHA:206546 | Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers | | | | 1496 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | DNM2 CL E G H | 1785 | 2974 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 167 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 91 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | | | | 600 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | DYSF CL E G H | 8291 | 3097 | ORPHA:268 | Dysferlin-related limb-girdle muscular dystrophy R2 | HP:0040283 - Occasional | | | 600 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | | | | 600 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 58 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | EMILIN1 CL E G H | 11117 | 19880 | OMIM:620080 | | | | | 2 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | FBLN5 CL E G H | 10516 | 3602 | OMIM:619764 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H | | | | 63 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | | | | 1 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | FGD4 CL E G H | 121512 | 19125 | OMIM:609311 | Charcot-marie-tooth disease, type 4H | | | | 158 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | FLNC CL E G H | 2318 | 3756 | ORPHA:63273 | Distal myopathy with posterior leg and anterior hand involvement | HP:0040282 - Frequent | | | 197 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | GARS1 CL E G H | 2617 | 4162 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607706 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive | | | | 108 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040284 - Very rare | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | | | 107 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040283 - Occasional | | | 34 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | GMPPB CL E G H | 29925 | 22932 | ORPHA:363623 | GMPPB-related limb-girdle muscular dystrophy R19 | HP:0040283 - Occasional | | | 34 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | | | | 173 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | GNE CL E G H | 10020 | 23657 | OMIM:605820 | Nonaka myopathy | | | | 173 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | HARS1 CL E G H | 3035 | 4816 | ORPHA:488333 | Autosomal dominant Charcot-Marie-Tooth disease type 2W | HP:0040281 - Very frequent | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | HINT1 CL E G H | 3094 | 4912 | ORPHA:324442 | Autosomal recessive axonal neuropathy with neuromyotonia | HP:0040281 - Very frequent | | | 12 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | HK1 CL E G H | 3098 | 4922 | ORPHA:99953 | Charcot-Marie-Tooth disease type 4G | HP:0040281 - Very frequent | | | 11 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | HMBS CL E G H | 3145 | 4982 | ORPHA:79276 | Acute intermittent porphyria | HP:0040283 - Occasional | | | 81 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | HSPB1 CL E G H | 3315 | 5246 | OMIM:608634 | Neuronopathy, distal hereditary motor, type IIB | . | | | 47 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | HSPB3 CL E G H | 8988 | 5248 | OMIM:613376 | Neuronopathy, distal hereditary motor, type IIC | . | | | 13 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | HSPB8 CL E G H | 26353 | 30171 | OMIM:158590 | Neuronopathy, distal hereditary motor, type IIA | . | | | 38 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | HP:0040282 - Frequent | | | 16 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | JAG2 CL E G H | 3714 | 6189 | OMIM:619566 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27 | | | | 1 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | KIF1A CL E G H | 547 | 888 | OMIM:614213 | Neuropathy, hereditary sensory, type IIC | | | | 276 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | LAMA2 CL E G H | 3908 | 6482 | OMIM:618138 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23 | | | | 411 | | |
HP:0003690 | HP:0031189 | Wrist drop | 2 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | HP:0040283 - Occasional | | | 286 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | LDB3 CL E G H | 11155 | 15710 | ORPHA:98912 | Late-onset distal myopathy, Markesbery-Griggs type | HP:0040284 - Very rare | | | 286 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | LIPE CL E G H | 3991 | 6621 | ORPHA:435660 | LIPE-related familial partial lipodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 645 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | LMNA CL E G H | 4000 | 6636 | ORPHA:98856 | Charcot-Marie-Tooth disease type 2B1 | | | | 645 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | LPIN1 CL E G H | 23175 | 13345 | ORPHA:99845 | Genetic recurrent myoglobinuria | | | | 95 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 124 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:240094 | Progressive supranuclear palsy-pure akinesia with gait freezing syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MATR3 CL E G H | 9782 | 6912 | OMIM:606070 | Amyotrophic lateral sclerosis 21 | | | | 80 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040283 - Occasional | | | 203 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040282 - Frequent | | | 203 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040281 - Very frequent | | | 18 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040281 - Very frequent | | | 8 | | |
HP:0003690 | HP:0031189 | Wrist drop | 2 | MORC2 CL E G H | 22880 | 23573 | OMIM:616688 | Charcot-Marie-Tooth disease, axonal, type 2Z | | | | 8 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 134 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MTMR14 CL E G H | 64419 | 26190 | OMIM:160150 | Myopathy, centronuclear, autosomal dominant | | | | 7 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 72 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | | 1269 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040283 - Occasional | | | 1269 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MYH7 CL E G H | 4625 | 7577 | OMIM:160500 | Myopathy, distal, 1 | | | | 1269 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | HP:0040281 - Very frequent | | | 82 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040283 - Occasional | | | 118 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | NEFL CL E G H | 4747 | 7739 | ORPHA:101085 | Charcot-Marie-Tooth disease type 1F | HP:0040282 - Frequent | | | 118 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | NEFL CL E G H | 4747 | 7739 | OMIM:607684 | Charcot-Marie-Tooth disease, axonal, type 2E | | | | 118 | | |
HP:0003690 | HP:0031189 | Wrist drop | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040284 - Very rare | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | PHKA1 CL E G H | 5255 | 8925 | OMIM:300559 | Muscle glycogenosis, X-linked | | | | 54 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040283 - Occasional | | | 759 | | |
HP:0003690 | HP:0031189 | Wrist drop | 2 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040284 - Very rare | | | 105 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | PMP2 CL E G H | 5375 | 9117 | OMIM:618279 | Charcot-Marie-Tooth disease, demyelinating, type 1G | | | | 1 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:98916 | Acute inflammatory demyelinating polyradiculoneuropathy | HP:0040282 - Frequent | | | 79 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040281 - Very frequent | | | 79 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 79 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | PNKP CL E G H | 11284 | 9154 | ORPHA:459033 | Ataxia-oculomotor apraxia type 4 | HP:0040283 - Occasional | | | 244 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:612020 | Spastic paraplegia 39, autosomal recessive | | | | 103 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 464 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 45 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | | | | 213 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | PPOX CL E G H | 5498 | 9280 | ORPHA:79473 | Porphyria variegata | HP:0040282 - Frequent | | | 41 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | | | | 170 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | RAB7A CL E G H | 7879 | 9788 | OMIM:600882 | Charcot-Marie-Tooth disease, axonal, type 2B | | | | 50 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 73 | | |
HP:0003690 | HP:0031189 | Wrist drop | 2 | REEP1 CL E G H | 65055 | 25786 | OMIM:620011 | | | | | 87 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | REEP1 CL E G H | 65055 | 25786 | ORPHA:139536 | Distal hereditary motor neuropathy type 5 | HP:0040282 - Frequent | | | 87 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 125 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | | | | 4 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SBF1 CL E G H | 6305 | 10542 | OMIM:615284 | Charcot-Marie-Tooth disease, type 4B3 | | | | 16 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | | | | 263 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | 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:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SECISBP2 CL E G H | 79048 | 30972 | ORPHA:171706 | Short stature-delayed bone age due to thyroid hormone metabolism deficiency | | | | 3 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SLC12A6 CL E G H | 9990 | 10914 | OMIM:620068 | | | | | 163 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 28 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 68 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:619903 | | | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 9 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | SMPX CL E G H | 23676 | 11122 | OMIM:301075 | MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7 | | | | 12 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SORD CL E G H | 6652 | 11184 | OMIM:618912 | SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD | | | | | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SPTLC2 CL E G H | 9517 | 11278 | OMIM:613640 | Neuropathy, hereditary sensory and autonomic, type IC | | | | 149 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 1129 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 508 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 4 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | TCAP CL E G H | 8557 | 11610 | OMIM:601954 | Muscular dystrophy, limb-girdle, type 2G | . | | | 78 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | HP:0040282 - Frequent | | | 52 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 171 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | TPM3 CL E G H | 7170 | 12012 | OMIM:609284 | Nemaline myopathy 1 | . | | | 108 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | TRIM32 CL E G H | 22954 | 16380 | OMIM:254110 | Muscular dystrophy, limb-girdle, type 2H | . | | | 108 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:606071 | Hereditary motor and sensory neuropathy, type IIC | | | | 214 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | | | | 214 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | | | | 214 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | | | | 7128 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | TTN CL E G H | 7273 | 12403 | OMIM:603689 | Myopathy, myofibrillar, 9, with early respiratory failure | | | | 7128 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | TTN CL E G H | 7273 | 12403 | ORPHA:609 | Tibial muscular dystrophy | HP:0040283 - Occasional | | | 7128 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040282 - Frequent | | | 113 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | VCP CL E G H | 7415 | 12666 | OMIM:613954 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | | | | 63 | | |
HP:0003690 | HP:0003731 | Quadriceps muscle weakness | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040283 - Occasional | | | 63 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040283 - Occasional | | | 490 | | |
HP:0003690 | HP:0009053 | Distal lower limb muscle weakness | 2 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003690 | HP:0008997 | Proximal muscle weakness in upper limbs | 2 | VWA1 CL E G H | 64856 | 30910 | OMIM:619216 | NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO | | | | | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | ADSS1 CL E G H | 122622 | 20093 | ORPHA:482601 | Adenylosuccinate synthetase-like 1-related distal myopathy | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | AGRN CL E G H | 375790 | 329 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | AK9 CL E G H | 221264 | 33814 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 1 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | CHRNA1 CL E G H | 1134 | 1955 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 74 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | CHRNB1 CL E G H | 1140 | 1961 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 53 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | CHRND CL E G H | 1144 | 1965 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 88 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | CHRNE CL E G H | 1145 | 1966 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 139 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | DOK7 CL E G H | 285489 | 26594 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 91 | | |
HP:0003690 | HP:0008963 | Tibialis muscle weakness | 3 | DYSF CL E G H | 8291 | 3097 | ORPHA:178400 | Distal myopathy with anterior tibial onset | HP:0040282 - Frequent | | | 600 | | |
HP:0003690 | HP:0008963 | Tibialis muscle weakness | 3 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040282 - Frequent | | | 600 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | DYSF CL E G H | 8291 | 3097 | ORPHA:45448 | Miyoshi myopathy | HP:0040283 - Occasional | | | 600 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | FBXO38 CL E G H | 81545 | 28844 | OMIM:615575 | Neuronopathy, distal hereditary motor, type IID | . | | | 1 | | |
HP:0003690 | HP:0011727 | Peroneal muscle weakness | 3 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:101097 | Autosomal recessive Charcot-Marie-Tooth disease with hoarseness | | | | 108 | | |
HP:0003690 | HP:0008963 | Tibialis muscle weakness | 3 | GIPC1 CL E G H | 10755 | 1226 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0003690 | HP:0008963 | Tibialis muscle weakness | 3 | GNE CL E G H | 10020 | 23657 | ORPHA:602 | GNE myopathy | HP:0040281 - Very frequent | | | 173 | | |
HP:0003690 | HP:0011727 | Peroneal muscle weakness | 3 | GYG1 CL E G H | 2992 | 4699 | OMIM:616199 | Polyglucosan body myopathy 2 | | | | 18 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0003690 | HP:0011727 | Peroneal muscle weakness | 3 | LMNA CL E G H | 4000 | 6636 | OMIM:181350 | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | . | | | 645 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | LRP4 CL E G H | 4038 | 6696 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 124 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040283 - Occasional | | | 203 | | |
HP:0003690 | HP:0008963 | Tibialis muscle weakness | 3 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | MUSK CL E G H | 4593 | 7525 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 72 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040283 - Occasional | | | 1269 | | |
HP:0003690 | HP:0008963 | Tibialis muscle weakness | 3 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040281 - Very frequent | | | 1269 | | |
HP:0003690 | HP:0008963 | Tibialis muscle weakness | 3 | NOTCH2NLC CL E G H | 100996717 | 53924 | ORPHA:98897 | Oculopharyngodistal myopathy | HP:0040283 - Occasional | | | | | |
HP:0003690 | HP:0011727 | Peroneal muscle weakness | 3 | PMP22 CL E G H | 5376 | 9118 | ORPHA:90658 | Charcot-Marie-Tooth disease type 1E | HP:0040282 - Frequent | | | 79 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | POMT1 CL E G H | 10585 | 9202 | ORPHA:86812 | POMT1-related limb-girdle muscular dystrophy R11 | HP:0040283 - Occasional | | | 213 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | RAPSN CL E G H | 5913 | 9863 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 73 | | |
HP:0003690 | HP:0011727 | Peroneal muscle weakness | 3 | SARDH CL E G H | 1757 | 10536 | ORPHA:3129 | Sarcosinemia | HP:0040283 - Occasional | | | 4 | | |
HP:0003690 | HP:0031108 | Triceps weakness | 3 | SCN4A CL E G H | 6329 | 10591 | ORPHA:98913 | Postsynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 263 | | |
HP:0003690 | HP:0011727 | Peroneal muscle weakness | 3 | TRPV4 CL E G H | 59341 | 18083 | OMIM:181405 | Scapuloperoneal spinal muscular atrophy | . | | | 214 | | |
HP:0003690 | HP:0008963 | Tibialis muscle weakness | 3 | TTN CL E G H | 7273 | 12403 | ORPHA:178464 | Hereditary myopathy with early respiratory failure | HP:0040283 - Occasional | | | 7128 | | |