Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Abnormality of the musculature of the limbs (HP:0009127)help
Parent Node:
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Muscle weakness (HP:0001324)help
..Starting node
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Limb muscle weakness (HP:0003690)help
Term ID: 3690
Name: Limb muscle weakness
Synonym: Limb muscle weakness; Limb weakness
Definition: Reduced strength and weakness of the muscles of the arms and legs.
Comments:
Reference: HP:0003690
Genes and Diseases:
 
       Child Nodes:
........expandUpper limb muscle weakness (HP:0003484) help
................... HP:0008997 Proximal muscle weakness in upper limbs
................... HP:0031189 Wrist drop
........expandLower limb muscle weakness (HP:0007340) help
................... HP:0009053 Distal lower limb muscle weakness
........expandProximal muscle weakness in lower limbs (HP:0008994) help
................... HP:0003731 Quadriceps muscle weakness
........expandFoot dorsiflexor weakness (HP:0009027) help

 Sister Nodes: 
..expandAbdominal wall muscle weakness (HP:0009023) help
..expandAnkle weakness (HP:0031374) help
..expandAxial muscle weakness (HP:0003327) help
..expandBulbar palsy (HP:0001283) help
..expandCold paresis (HP:0031372) help
..expandDiaphragmatic weakness (HP:0009113) help
..expandDistal muscle weakness (HP:0002460) help
..expandFacial palsy (HP:0010628) help
..expandFatigable weakness (HP:0003473) help
..expandGeneralized muscle weakness (HP:0003324) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandLimb-girdle muscle weakness (HP:0003325) help
..expandMuscle flaccidity (HP:0010547) help
..expandNeck muscle weakness (HP:0000467) help
..expandPoor head control (HP:0002421) help
..expandProgressive muscle weakness (HP:0003323) help
..expandProximal muscle weakness (HP:0003701) help
..expandScapuloperoneal weakness (HP:0003704) help
..expandWeakness of muscles of respiration (HP:0004347) help
..expandWeakness of orbicularis oculi muscle (HP:0012507) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003690HP:0003690Limb muscle weakness0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N.
HP:0003690HP:0003690Limb muscle weakness0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0003690HP:0003690Limb muscle weakness0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0003690HP:0003690Limb muscle weakness0ACOX1 CL E G H51119OMIM:618960MITCHELL SYNDROME; MITCH120
HP:0003690HP:0003690Limb muscle weakness0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent96
HP:0003690HP:0003690Limb muscle weakness0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathy96
HP:0003690HP:0003690Limb muscle weakness0ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0003690HP:0003690Limb muscle weakness0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0003690HP:0003690Limb muscle weakness0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0003690HP:0003690Limb muscle weakness0ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0003690HP:0003690Limb muscle weakness0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0003690HP:0003690Limb muscle weakness0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0003690HP:0003690Limb muscle weakness0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome86
HP:0003690HP:0003690Limb muscle weakness0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0003690HP:0003690Limb muscle weakness0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0003690HP:0003690Limb muscle weakness0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0003690HP:0003690Limb muscle weakness0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0003690HP:0003690Limb muscle weakness0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0003690HP:0003690Limb muscle weakness0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0003690HP:0003690Limb muscle weakness0AMPD1 CL E G H270468ORPHA:45Adenosine monophosphate deaminase deficiencyHP:0040281 - Very frequent62
HP:0003690HP:0003690Limb muscle weakness0AMPD3 CL E G H272470ORPHA:45Adenosine monophosphate deaminase deficiencyHP:0040281 - Very frequent65
HP:0003690HP:0003690Limb muscle weakness0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0003690HP:0003690Limb muscle weakness0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0003690HP:0003690Limb muscle weakness0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003690HP:0003690Limb muscle weakness0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48165
HP:0003690HP:0003690Limb muscle weakness0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive165
HP:0003690HP:0003690Limb muscle weakness0AR CL E G H367644OMIM:313200Spinal and bulbar muscular atrophy, X-linked 1.125
HP:0003690HP:0003690Limb muscle weakness0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndrome78
HP:0003690HP:0003690Limb muscle weakness0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0003690HP:0003690Limb muscle weakness0ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 171
HP:0003690HP:0003690Limb muscle weakness0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant71
HP:0003690HP:0003690Limb muscle weakness0ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 15
HP:0003690HP:0003690Limb muscle weakness0ATP1A1 CL E G H476799OMIM:618036Charcot-Marie-Tooth disease, axonal, type 2DD4
HP:0003690HP:0003690Limb muscle weakness0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0003690HP:0003690Limb muscle weakness0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0003690HP:0003690Limb muscle weakness0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegia
HP:0003690HP:0003690Limb muscle weakness0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0003690HP:0003690Limb muscle weakness0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0003690HP:0003690Limb muscle weakness0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0003690HP:0003690Limb muscle weakness0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0003690HP:0003690Limb muscle weakness0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0003690HP:0003690Limb muscle weakness0BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17105
HP:0003690HP:0003690Limb muscle weakness0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0003690HP:0003690Limb muscle weakness0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003690HP:0003690Limb muscle weakness0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17105
HP:0003690HP:0003690Limb muscle weakness0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0003690HP:0003690Limb muscle weakness0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 252
HP:0003690HP:0003690Limb muscle weakness0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0003690HP:0003690Limb muscle weakness0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003690HP:0003690Limb muscle weakness0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 764
HP:0003690HP:0003690Limb muscle weakness0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0003690HP:0003690Limb muscle weakness0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1323
HP:0003690HP:0003690Limb muscle weakness0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0003690HP:0003690Limb muscle weakness0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0003690HP:0003690Limb muscle weakness0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0003690HP:0003690Limb muscle weakness0CCNF CL E G H8991591OMIM:619141FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0003690HP:0003690Limb muscle weakness0CD59 CL E G H9661689OMIM:612300Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy.3
HP:0003690HP:0003690Limb muscle weakness0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0003690HP:0003690Limb muscle weakness0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0003690HP:0003690Limb muscle weakness0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0003690HP:0003690Limb muscle weakness0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0003690HP:0003690Limb muscle weakness0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0003690HP:0003690Limb muscle weakness0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0003690HP:0003690Limb muscle weakness0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003690HP:0003690Limb muscle weakness0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0003690HP:0003690Limb muscle weakness0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0003690HP:0003690Limb muscle weakness0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0003690HP:0003690Limb muscle weakness0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0003690HP:0003690Limb muscle weakness0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0003690HP:0003690Limb muscle weakness0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0003690HP:0003690Limb muscle weakness0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0003690HP:0003690Limb muscle weakness0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0003690HP:0003690Limb muscle weakness0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0003690HP:0003690Limb muscle weakness0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0003690HP:0003690Limb muscle weakness0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0003690HP:0003690Limb muscle weakness0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0003690HP:0003690Limb muscle weakness0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0003690HP:0003690Limb muscle weakness0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0003690HP:0003690Limb muscle weakness0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0003690HP:0003690Limb muscle weakness0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0003690HP:0003690Limb muscle weakness0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003690HP:0003690Limb muscle weakness0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0003690HP:0003690Limb muscle weakness0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003690HP:0003690Limb muscle weakness0COX6A1 CL E G H13372277OMIM:616039Charcot-Marie-Tooth disease, recessive intermediate D4
HP:0003690HP:0003690Limb muscle weakness0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyria72
HP:0003690HP:0003690Limb muscle weakness0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0003690HP:0003690Limb muscle weakness0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0003690HP:0003690Limb muscle weakness0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0003690HP:0003690Limb muscle weakness0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm246
HP:0003690HP:0003690Limb muscle weakness0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0003690HP:0003690Limb muscle weakness0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5A57
HP:0003690HP:0003690Limb muscle weakness0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0003690HP:0003690Limb muscle weakness0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB86
HP:0003690HP:0003690Limb muscle weakness0DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 2835
HP:0003690HP:0003690Limb muscle weakness0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive35
HP:0003690HP:0003690Limb muscle weakness0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0003690HP:0003690Limb muscle weakness0DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0003690HP:0003690Limb muscle weakness0DES CL E G H16742770OMIM:181400Scapuloperoneal syndrome, neurogenic, Kaeser type263
HP:0003690HP:0003690Limb muscle weakness0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency57
HP:0003690HP:0003690Limb muscle weakness0DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q12
HP:0003690HP:0003690Limb muscle weakness0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003690HP:0003690Limb muscle weakness0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndrome3
HP:0003690HP:0003690Limb muscle weakness0DNAJB2 CL E G H33005228OMIM:614881Spinal muscular atrophy, distal, autosomal recessive, 530
HP:0003690HP:0003690Limb muscle weakness0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0003690HP:0003690Limb muscle weakness0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003690HP:0003690Limb muscle weakness0DNMT3B CL E G H17892979OMIM:619478FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD479
HP:0003690HP:0003690Limb muscle weakness0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0003690HP:0003690Limb muscle weakness0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0003690HP:0003690Limb muscle weakness0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0003690HP:0003690Limb muscle weakness0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0003690HP:0003690Limb muscle weakness0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant427
HP:0003690HP:0003690Limb muscle weakness0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0003690HP:0003690Limb muscle weakness0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0003690HP:0003690Limb muscle weakness0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1600
HP:0003690HP:0003690Limb muscle weakness0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003690HP:0003690Limb muscle weakness0EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D58
HP:0003690HP:0003690Limb muscle weakness0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0003690HP:0003690Limb muscle weakness0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive58
HP:0003690HP:0003690Limb muscle weakness0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0003690HP:0003690Limb muscle weakness0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0003690HP:0003690Limb muscle weakness0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0003690HP:0003690Limb muscle weakness0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive18
HP:0003690HP:0003690Limb muscle weakness0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0003690HP:0003690Limb muscle weakness0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0003690HP:0003690Limb muscle weakness0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0003690HP:0003690Limb muscle weakness0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003690HP:0003690Limb muscle weakness0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0003690HP:0003690Limb muscle weakness0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant68
HP:0003690HP:0003690Limb muscle weakness0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0003690HP:0003690Limb muscle weakness0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumor8
HP:0003690HP:0003690Limb muscle weakness0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0003690HP:0003690Limb muscle weakness0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type II3
HP:0003690HP:0003690Limb muscle weakness0GAA CL E G H25484065OMIM:232300Glycogen storage disease II407
HP:0003690HP:0003690Limb muscle weakness0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0003690HP:0003690Limb muscle weakness0GALC CL E G H25814115ORPHA:206448Adult Krabbe disease160
HP:0003690HP:0003690Limb muscle weakness0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0003690HP:0003690Limb muscle weakness0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040283 - Occasional121
HP:0003690HP:0003690Limb muscle weakness0GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D
HP:0003690HP:0003690Limb muscle weakness0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0003690HP:0003690Limb muscle weakness0GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA
HP:0003690HP:0003690Limb muscle weakness0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003690HP:0003690Limb muscle weakness0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0003690HP:0003690Limb muscle weakness0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003690HP:0003690Limb muscle weakness0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003690HP:0003690Limb muscle weakness0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0003690HP:0003690Limb muscle weakness0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0003690HP:0003690Limb muscle weakness0GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A.108
HP:0003690HP:0003690Limb muscle weakness0GFAP CL E G H26704235ORPHA:363722Alexander disease type II188
HP:0003690HP:0003690Limb muscle weakness0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0003690HP:0003690Limb muscle weakness0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0003690HP:0003690Limb muscle weakness0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0003690HP:0003690Limb muscle weakness0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R1934
HP:0003690HP:0003690Limb muscle weakness0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0003690HP:0003690Limb muscle weakness0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003690HP:0003690Limb muscle weakness0GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0003690HP:0003690Limb muscle weakness0GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0003690HP:0003690Limb muscle weakness0GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency18
HP:0003690HP:0003690Limb muscle weakness0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0003690HP:0003690Limb muscle weakness0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0003690HP:0003690Limb muscle weakness0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiency99
HP:0003690HP:0003690Limb muscle weakness0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiency60
HP:0003690HP:0003690Limb muscle weakness0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0003690HP:0003690Limb muscle weakness0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0003690HP:0003690Limb muscle weakness0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0003690HP:0003690Limb muscle weakness0HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive12
HP:0003690HP:0003690Limb muscle weakness0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0003690HP:0003690Limb muscle weakness0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0003690HP:0003690Limb muscle weakness0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0003690HP:0003690Limb muscle weakness0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2F47
HP:0003690HP:0003690Limb muscle weakness0HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F47
HP:0003690HP:0003690Limb muscle weakness0HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB47
HP:0003690HP:0003690Limb muscle weakness0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0003690HP:0003690Limb muscle weakness0HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA38
HP:0003690HP:0003690Limb muscle weakness0HSPD1 CL E G H33295261ORPHA:100994Autosomal dominant spastic paraplegia type 1346
HP:0003690HP:0003690Limb muscle weakness0HSPD1 CL E G H33295261OMIM:605280Spastic paraplegia 13, autosomal dominant46
HP:0003690HP:0003690Limb muscle weakness0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003690HP:0003690Limb muscle weakness0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0003690HP:0003690Limb muscle weakness0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0003690HP:0003690Limb muscle weakness0IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2S209
HP:0003690HP:0003690Limb muscle weakness0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0003690HP:0003690Limb muscle weakness0INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E135
HP:0003690HP:0003690Limb muscle weakness0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathy127
HP:0003690HP:0003690Limb muscle weakness0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003690HP:0003690Limb muscle weakness0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003690HP:0003690Limb muscle weakness0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0003690HP:0003690Limb muscle weakness0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent80
HP:0003690HP:0003690Limb muscle weakness0KBTBD13 CL E G H39059437227OMIM:609273Nemaline myopathy 6.80
HP:0003690HP:0003690Limb muscle weakness0KCNJ10 CL E G H37666256ORPHA:199343EAST syndrome121
HP:0003690HP:0003690Limb muscle weakness0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0003690HP:0003690Limb muscle weakness0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0003690HP:0003690Limb muscle weakness0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive276
HP:0003690HP:0003690Limb muscle weakness0KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1.202
HP:0003690HP:0003690Limb muscle weakness0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 1093
HP:0003690HP:0003690Limb muscle weakness0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant93
HP:0003690HP:0003690Limb muscle weakness0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent13
HP:0003690HP:0003690Limb muscle weakness0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0003690HP:0003690Limb muscle weakness0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37
HP:0003690HP:0003690Limb muscle weakness0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0003690HP:0003690Limb muscle weakness0KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0003690HP:0003690Limb muscle weakness0L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1134
HP:0003690HP:0003690Limb muscle weakness0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003690HP:0003690Limb muscle weakness0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0003690HP:0003690Limb muscle weakness0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0003690HP:0003690Limb muscle weakness0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy1
HP:0003690HP:0003690Limb muscle weakness0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0003690HP:0003690Limb muscle weakness0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0003690HP:0003690Limb muscle weakness0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0003690HP:0003690Limb muscle weakness0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0003690HP:0003690Limb muscle weakness0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003690HP:0003690Limb muscle weakness0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1645
HP:0003690HP:0003690Limb muscle weakness0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0003690HP:0003690Limb muscle weakness0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0003690HP:0003690Limb muscle weakness0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003690HP:0003690Limb muscle weakness0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0003690HP:0003690Limb muscle weakness0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0003690HP:0003690Limb muscle weakness0LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P102
HP:0003690HP:0003690Limb muscle weakness0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0003690HP:0003690Limb muscle weakness0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathy2
HP:0003690HP:0003690Limb muscle weakness0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0003690HP:0003690Limb muscle weakness0MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U
HP:0003690HP:0003690Limb muscle weakness0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0003690HP:0003690Limb muscle weakness0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0003690HP:0003690Limb muscle weakness0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003690HP:0003690Limb muscle weakness0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B203
HP:0003690HP:0003690Limb muscle weakness0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A.203
HP:0003690HP:0003690Limb muscle weakness0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0003690HP:0003690Limb muscle weakness0MLIP CL E G H9052321355OMIM:620138
HP:0003690HP:0003690Limb muscle weakness0MME CL E G H43117154OMIM:617017Charcot-Marie-Tooth disease, axonal, type 2T18
HP:0003690HP:0003690Limb muscle weakness0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 4318
HP:0003690HP:0003690Limb muscle weakness0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0003690HP:0003690Limb muscle weakness0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003690HP:0003690Limb muscle weakness0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0003690HP:0003690Limb muscle weakness0MPZ CL E G H43597225OMIM:607677Charcot-Marie-Tooth disease, axonal, type 2I134
HP:0003690HP:0003690Limb muscle weakness0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0003690HP:0003690Limb muscle weakness0MPZ CL E G H43597225OMIM:607791Charcot-Marie-Tooth disease, dominant intermediate D134
HP:0003690HP:0003690Limb muscle weakness0MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0003690HP:0003690Limb muscle weakness0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0003690HP:0003690Limb muscle weakness0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndrome134
HP:0003690HP:0003690Limb muscle weakness0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36
HP:0003690HP:0003690Limb muscle weakness0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma.HP:0003584 - Late onset85
HP:0003690HP:0003690Limb muscle weakness0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiency183
HP:0003690HP:0003690Limb muscle weakness0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0003690HP:0003690Limb muscle weakness0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003690HP:0003690Limb muscle weakness0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0003690HP:0003690Limb muscle weakness0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7
HP:0003690HP:0003690Limb muscle weakness0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0003690HP:0003690Limb muscle weakness0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0003690HP:0003690Limb muscle weakness0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0003690HP:0003690Limb muscle weakness0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0003690HP:0003690Limb muscle weakness0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome227
HP:0003690HP:0003690Limb muscle weakness0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0003690HP:0003690Limb muscle weakness0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0003690HP:0003690Limb muscle weakness0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0003690HP:0003690Limb muscle weakness0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathy131
HP:0003690HP:0003690Limb muscle weakness0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0003690HP:0003690Limb muscle weakness0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1A75
HP:0003690HP:0003690Limb muscle weakness0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0003690HP:0003690Limb muscle weakness0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent217
HP:0003690HP:0003690Limb muscle weakness0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0003690HP:0003690Limb muscle weakness0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent745
HP:0003690HP:0003690Limb muscle weakness0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathy745
HP:0003690HP:0003690Limb muscle weakness0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0003690HP:0003690Limb muscle weakness0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0003690HP:0003690Limb muscle weakness0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003690HP:0003690Limb muscle weakness0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2E118
HP:0003690HP:0003690Limb muscle weakness0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0003690HP:0003690Limb muscle weakness0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0003690HP:0003690Limb muscle weakness0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0003690HP:0003690Limb muscle weakness0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0003690HP:0003690Limb muscle weakness0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0003690HP:0003690Limb muscle weakness0NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant117
HP:0003690HP:0003690Limb muscle weakness0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0003690HP:0003690Limb muscle weakness0NOTCH2NLC CL E G H10099671753924OMIM:619473OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0003690HP:0003690Limb muscle weakness0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0003690HP:0003690Limb muscle weakness0ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 219
HP:0003690HP:0003690Limb muscle weakness0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0003690HP:0003690Limb muscle weakness0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0003690HP:0003690Limb muscle weakness0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 64
HP:0003690HP:0003690Limb muscle weakness0PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0003690HP:0003690Limb muscle weakness0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003690HP:0003690Limb muscle weakness0PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0003690HP:0003690Limb muscle weakness0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0003690HP:0003690Limb muscle weakness0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0003690HP:0003690Limb muscle weakness0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0003690HP:0003690Limb muscle weakness0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0003690HP:0003690Limb muscle weakness0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0003690HP:0003690Limb muscle weakness0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0003690HP:0003690Limb muscle weakness0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked60
HP:0003690HP:0003690Limb muscle weakness0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0003690HP:0003690Limb muscle weakness0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0003690HP:0003690Limb muscle weakness0PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness.79
HP:0003690HP:0003690Limb muscle weakness0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0003690HP:0003690Limb muscle weakness0PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0003690HP:0003690Limb muscle weakness0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0003690HP:0003690Limb muscle weakness0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndrome79
HP:0003690HP:0003690Limb muscle weakness0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4244
HP:0003690HP:0003690Limb muscle weakness0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0003690HP:0003690Limb muscle weakness0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0003690HP:0003690Limb muscle weakness0POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z6
HP:0003690HP:0003690Limb muscle weakness0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003690HP:0003690Limb muscle weakness0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy464
HP:0003690HP:0003690Limb muscle weakness0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0003690HP:0003690Limb muscle weakness0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0003690HP:0003690Limb muscle weakness0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4.45
HP:0003690HP:0003690Limb muscle weakness0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0003690HP:0003690Limb muscle weakness0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003690HP:0003690Limb muscle weakness0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndrome40
HP:0003690HP:0003690Limb muscle weakness0PPOX CL E G H54989280ORPHA:79473Porphyria variegata41
HP:0003690HP:0003690Limb muscle weakness0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease69
HP:0003690HP:0003690Limb muscle weakness0PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndrome69
HP:0003690HP:0003690Limb muscle weakness0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0003690HP:0003690Limb muscle weakness0PRX CL E G H5771613797OMIM:614895Charcot-Marie-Tooth disease, demyelinating, type 4F.170
HP:0003690HP:0003690Limb muscle weakness0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0003690HP:0003690Limb muscle weakness0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0003690HP:0003690Limb muscle weakness0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0003690HP:0003690Limb muscle weakness0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome150
HP:0003690HP:0003690Limb muscle weakness0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0003690HP:0003690Limb muscle weakness0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndrome88
HP:0003690HP:0003690Limb muscle weakness0REEP1 CL E G H6505525786OMIM:62001187
HP:0003690HP:0003690Limb muscle weakness0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 3187
HP:0003690HP:0003690Limb muscle weakness0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0003690HP:0003690Limb muscle weakness0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant87
HP:0003690HP:0003690Limb muscle weakness0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040281 - Very frequent3
HP:0003690HP:0003690Limb muscle weakness0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0003690HP:0003690Limb muscle weakness0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040281 - Very frequent125
HP:0003690HP:0003690Limb muscle weakness0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0003690HP:0003690Limb muscle weakness0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy125
HP:0003690HP:0003690Limb muscle weakness0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 1225
HP:0003690HP:0003690Limb muscle weakness0RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant25
HP:0003690HP:0003690Limb muscle weakness0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0003690HP:0003690Limb muscle weakness0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0003690HP:0003690Limb muscle weakness0SARDH CL E G H175710536ORPHA:3129Sarcosinemia4
HP:0003690HP:0003690Limb muscle weakness0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B3.16
HP:0003690HP:0003690Limb muscle weakness0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003690HP:0003690Limb muscle weakness0SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2180
HP:0003690HP:0003690Limb muscle weakness0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0003690HP:0003690Limb muscle weakness0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0003690HP:0003690Limb muscle weakness0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0003690HP:0003690Limb muscle weakness0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0003690HP:0003690Limb muscle weakness0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0003690HP:0003690Limb muscle weakness0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0003690HP:0003690Limb muscle weakness0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathy144
HP:0003690HP:0003690Limb muscle weakness0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0003690HP:0003690Limb muscle weakness0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0003690HP:0003690Limb muscle weakness0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0003690HP:0003690Limb muscle weakness0SIGMAR1 CL E G H102808157OMIM:614373Amyotrophic lateral sclerosis 16, juvenile.6
HP:0003690HP:0003690Limb muscle weakness0SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 26
HP:0003690HP:0003690Limb muscle weakness0SLC12A6 CL E G H999010914OMIM:620068163
HP:0003690HP:0003690Limb muscle weakness0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0003690HP:0003690Limb muscle weakness0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003690HP:0003690Limb muscle weakness0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0003690HP:0003690Limb muscle weakness0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0003690HP:0003690Limb muscle weakness0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0003690HP:0003690Limb muscle weakness0SLC33A1 CL E G H919795ORPHA:171863Autosomal dominant spastic paraplegia type 4248
HP:0003690HP:0003690Limb muscle weakness0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2.47
HP:0003690HP:0003690Limb muscle weakness0SLC5A6 CL E G H888411041OMIM:619903
HP:0003690HP:0003690Limb muscle weakness0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0003690HP:0003690Limb muscle weakness0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0003690HP:0003690Limb muscle weakness0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0003690HP:0003690Limb muscle weakness0SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0003690HP:0003690Limb muscle weakness0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0003690HP:0003690Limb muscle weakness0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0003690HP:0003690Limb muscle weakness0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0003690HP:0003690Limb muscle weakness0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0003690HP:0003690Limb muscle weakness0SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003690HP:0003690Limb muscle weakness0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003690HP:0003690Limb muscle weakness0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0003690HP:0003690Limb muscle weakness0SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 2066
HP:0003690HP:0003690Limb muscle weakness0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive66
HP:0003690HP:0003690Limb muscle weakness0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4208
HP:0003690HP:0003690Limb muscle weakness0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant208
HP:0003690HP:0003690Limb muscle weakness0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0003690HP:0003690Limb muscle weakness0SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2X287
HP:0003690HP:0003690Limb muscle weakness0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0003690HP:0003690Limb muscle weakness0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 2128
HP:0003690HP:0003690Limb muscle weakness0SPG21 CL E G H5132420373OMIM:248900Mast syndrome28
HP:0003690HP:0003690Limb muscle weakness0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0003690HP:0003690Limb muscle weakness0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7171
HP:0003690HP:0003690Limb muscle weakness0SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 154
HP:0003690HP:0003690Limb muscle weakness0SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1149
HP:0003690HP:0003690Limb muscle weakness0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0003690HP:0003690Limb muscle weakness0SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander type62
HP:0003690HP:0003690Limb muscle weakness0SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0003690HP:0003690Limb muscle weakness0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0003690HP:0003690Limb muscle weakness0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0003690HP:0003690Limb muscle weakness0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce type1129
HP:0003690HP:0003690Limb muscle weakness0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0003690HP:0003690Limb muscle weakness0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0003690HP:0003690Limb muscle weakness0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0003690HP:0003690Limb muscle weakness0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome52
HP:0003690HP:0003690Limb muscle weakness0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0003690HP:0003690Limb muscle weakness0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0003690HP:0003690Limb muscle weakness0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 152
HP:0003690HP:0003690Limb muscle weakness0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0003690HP:0003690Limb muscle weakness0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0003690HP:0003690Limb muscle weakness0TIA1 CL E G H707211802OMIM:619133AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS265
HP:0003690HP:0003690Limb muscle weakness0TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander type5
HP:0003690HP:0003690Limb muscle weakness0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0003690HP:0003690Limb muscle weakness0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0003690HP:0003690Limb muscle weakness0TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0003690HP:0003690Limb muscle weakness0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent54
HP:0003690HP:0003690Limb muscle weakness0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathy54
HP:0003690HP:0003690Limb muscle weakness0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0003690HP:0003690Limb muscle weakness0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathy54
HP:0003690HP:0003690Limb muscle weakness0TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0003690HP:0003690Limb muscle weakness0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent108
HP:0003690HP:0003690Limb muscle weakness0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathy108
HP:0003690HP:0003690Limb muscle weakness0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0003690HP:0003690Limb muscle weakness0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0003690HP:0003690Limb muscle weakness0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0003690HP:0003690Limb muscle weakness0TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8108
HP:0003690HP:0003690Limb muscle weakness0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040282 - Frequent4
HP:0003690HP:0003690Limb muscle weakness0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003690HP:0003690Limb muscle weakness0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0003690HP:0003690Limb muscle weakness0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0003690HP:0003690Limb muscle weakness0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0003690HP:0003690Limb muscle weakness0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003690HP:0003690Limb muscle weakness0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophy7128
HP:0003690HP:0003690Limb muscle weakness0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0003690HP:0003690Limb muscle weakness0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0003690HP:0003690Limb muscle weakness0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy138
HP:0003690HP:0003690Limb muscle weakness0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12
HP:0003690HP:0003690Limb muscle weakness0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003690HP:0003690Limb muscle weakness0VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutation63
HP:0003690HP:0003690Limb muscle weakness0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003690HP:0003690Limb muscle weakness0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0003690HP:0003690Limb muscle weakness0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0003690HP:0003690Limb muscle weakness0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0003690HP:0003690Limb muscle weakness0VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy10
HP:0003690HP:0003690Limb muscle weakness0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130
HP:0003690HP:0003690Limb muscle weakness0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003690HP:0003690Limb muscle weakness0WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 883
HP:0003690HP:0003690Limb muscle weakness0WASHC5 CL E G H989728984OMIM:603563Spastic paraplegia 8, autosomal dominant83
HP:0003690HP:0003690Limb muscle weakness0YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C
HP:0003690HP:0003690Limb muscle weakness0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15189
HP:0003690HP:0003690Limb muscle weakness0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive189
HP:0003690HP:0003690Limb muscle weakness0ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant52
HP:0003690HP:0007340Lower limb muscle weakness1AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0003690HP:0009027Foot dorsiflexor weakness1AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N.
HP:0003690HP:0007340Lower limb muscle weakness1ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0003690HP:0007340Lower limb muscle weakness1ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0003690HP:0009027Foot dorsiflexor weakness1ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional96
HP:0003690HP:0003484Upper limb muscle weakness1ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0003690HP:0009027Foot dorsiflexor weakness1ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal96
HP:0003690HP:0009027Foot dorsiflexor weakness1ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0003690HP:0009027Foot dorsiflexor weakness1ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0003690HP:0003484Upper limb muscle weakness1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0003690HP:0007340Lower limb muscle weakness1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0003690HP:0009027Foot dorsiflexor weakness1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0003690HP:0007340Lower limb muscle weakness1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0003690HP:0003484Upper limb muscle weakness1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0003690HP:0007340Lower limb muscle weakness1AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0003690HP:0003484Upper limb muscle weakness1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0003690HP:0007340Lower limb muscle weakness1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0003690HP:0003484Upper limb muscle weakness1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0003690HP:0003484Upper limb muscle weakness1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0003690HP:0007340Lower limb muscle weakness1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0003690HP:0009027Foot dorsiflexor weakness1ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessiveHP:0040283 - Occasional89
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040281 - Very frequent304
HP:0003690HP:0007340Lower limb muscle weakness1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0003690HP:0003484Upper limb muscle weakness1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0003690HP:0003484Upper limb muscle weakness1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0003690HP:0007340Lower limb muscle weakness1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0003690HP:0003484Upper limb muscle weakness1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003690HP:0007340Lower limb muscle weakness1AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040282 - Frequent165
HP:0003690HP:0007340Lower limb muscle weakness1AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0003690HP:0007340Lower limb muscle weakness1ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040281 - Very frequent78
HP:0003690HP:0007340Lower limb muscle weakness1ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0003690HP:0009027Foot dorsiflexor weakness1ATL1 CL E G H5106211231ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent71
HP:0003690HP:0007340Lower limb muscle weakness1ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant.71
HP:0003690HP:0009027Foot dorsiflexor weakness1ATL3 CL E G H2592324526ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent5
HP:0003690HP:0009027Foot dorsiflexor weakness1ATP1A1 CL E G H476799OMIM:618036Charcot-Marie-Tooth disease, axonal, type 2DD.4
HP:0003690HP:0007340Lower limb muscle weakness1ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0003690HP:0007340Lower limb muscle weakness1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0003690HP:0003484Upper limb muscle weakness1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0003690HP:0007340Lower limb muscle weakness1ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegia
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0003690HP:0003484Upper limb muscle weakness1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0003690HP:0007340Lower limb muscle weakness1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0003690HP:0007340Lower limb muscle weakness1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0003690HP:0003484Upper limb muscle weakness1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0003690HP:0009027Foot dorsiflexor weakness1BSCL2 CL E G H2658015832ORPHA:100998Autosomal dominant spastic paraplegia type 17HP:0040282 - Frequent105
HP:0003690HP:0003484Upper limb muscle weakness1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0003690HP:0007340Lower limb muscle weakness1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0003690HP:0007340Lower limb muscle weakness1BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003690HP:0007340Lower limb muscle weakness1BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0003690HP:0007340Lower limb muscle weakness1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent247
HP:0003690HP:0009027Foot dorsiflexor weakness1CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003690HP:0003484Upper limb muscle weakness1CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003690HP:0007340Lower limb muscle weakness1CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040282 - Frequent4
HP:0003690HP:0007340Lower limb muscle weakness1CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0003690HP:0007340Lower limb muscle weakness1CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0003690HP:0007340Lower limb muscle weakness1CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0003690HP:0007340Lower limb muscle weakness1CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0003690HP:0003484Upper limb muscle weakness1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0003690HP:0007340Lower limb muscle weakness1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0003690HP:0009027Foot dorsiflexor weakness1CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0003690HP:0007340Lower limb muscle weakness1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0003690HP:0003484Upper limb muscle weakness1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0003690HP:0007340Lower limb muscle weakness1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0003690HP:0007340Lower limb muscle weakness1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0003690HP:0003484Upper limb muscle weakness1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040282 - Frequent11
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant.11
HP:0003690HP:0003484Upper limb muscle weakness1CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003690HP:0007340Lower limb muscle weakness1CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0003690HP:0003484Upper limb muscle weakness1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0003690HP:0003484Upper limb muscle weakness1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0003690HP:0003484Upper limb muscle weakness1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0003690HP:0003484Upper limb muscle weakness1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0003690HP:0009027Foot dorsiflexor weakness1COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0003690HP:0009027Foot dorsiflexor weakness1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0003690HP:0003484Upper limb muscle weakness1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0003690HP:0007340Lower limb muscle weakness1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0003690HP:0003484Upper limb muscle weakness1COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent3
HP:0003690HP:0007340Lower limb muscle weakness1COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent3
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0003690HP:0009027Foot dorsiflexor weakness1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0003690HP:0009027Foot dorsiflexor weakness1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0003690HP:0009027Foot dorsiflexor weakness1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0003690HP:0007340Lower limb muscle weakness1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003690HP:0003484Upper limb muscle weakness1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003690HP:0009027Foot dorsiflexor weakness1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0003690HP:0007340Lower limb muscle weakness1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003690HP:0003484Upper limb muscle weakness1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003690HP:0009027Foot dorsiflexor weakness1COX6A1 CL E G H13372277OMIM:616039Charcot-Marie-Tooth disease, recessive intermediate D.4
HP:0003690HP:0003484Upper limb muscle weakness1CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyria72
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040282 - Frequent72
HP:0003690HP:0007340Lower limb muscle weakness1CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0003690HP:0003484Upper limb muscle weakness1CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0003690HP:0009027Foot dorsiflexor weakness1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040282 - Frequent46
HP:0003690HP:0009027Foot dorsiflexor weakness1CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0003690HP:0007340Lower limb muscle weakness1CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0003690HP:0007340Lower limb muscle weakness1CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040281 - Very frequent57
HP:0003690HP:0003484Upper limb muscle weakness1CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040284 - Very rare57
HP:0003690HP:0007340Lower limb muscle weakness1CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive.57
HP:0003690HP:0003484Upper limb muscle weakness1CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive57
HP:0003690HP:0007340Lower limb muscle weakness1DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0003690HP:0007340Lower limb muscle weakness1DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 28HP:0040282 - Frequent35
HP:0003690HP:0007340Lower limb muscle weakness1DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive.35
HP:0003690HP:0007340Lower limb muscle weakness1DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0003690HP:0007340Lower limb muscle weakness1DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0003690HP:0009027Foot dorsiflexor weakness1DES CL E G H16742770OMIM:181400Scapuloperoneal syndrome, neurogenic, Kaeser type.263
HP:0003690HP:0007340Lower limb muscle weakness1DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040282 - Frequent57
HP:0003690HP:0007340Lower limb muscle weakness1DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q12
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0003690HP:0009027Foot dorsiflexor weakness1DNAJB2 CL E G H33005228OMIM:614881Spinal muscular atrophy, distal, autosomal recessive, 5.30
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0003690HP:0003484Upper limb muscle weakness1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0003690HP:0007340Lower limb muscle weakness1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003690HP:0003484Upper limb muscle weakness1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003690HP:0003484Upper limb muscle weakness1DNMT3B CL E G H17892979OMIM:619478FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD479
HP:0003690HP:0003484Upper limb muscle weakness1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0003690HP:0007340Lower limb muscle weakness1DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 23.13
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0003690HP:0007340Lower limb muscle weakness1DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040282 - Frequent600
HP:0003690HP:0007340Lower limb muscle weakness1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040282 - Frequent600
HP:0003690HP:0003484Upper limb muscle weakness1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0003690HP:0007340Lower limb muscle weakness1DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1.600
HP:0003690HP:0003484Upper limb muscle weakness1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003690HP:0009027Foot dorsiflexor weakness1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040283 - Occasional600
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0003690HP:0007340Lower limb muscle weakness1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003690HP:0003484Upper limb muscle weakness1EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D.58
HP:0003690HP:0009027Foot dorsiflexor weakness1EGR2 CL E G H19593239OMIM:607678Charcot-Marie-Tooth disease, demyelinating, type 1D.58
HP:0003690HP:0009027Foot dorsiflexor weakness1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0003690HP:0007340Lower limb muscle weakness1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0003690HP:0003484Upper limb muscle weakness1EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive.58
HP:0003690HP:0003484Upper limb muscle weakness1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0003690HP:0007340Lower limb muscle weakness1EMILIN1 CL E G H1111719880OMIM:6200802
HP:0003690HP:0003484Upper limb muscle weakness1ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0003690HP:0007340Lower limb muscle weakness1ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0003690HP:0007340Lower limb muscle weakness1ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0003690HP:0007340Lower limb muscle weakness1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0003690HP:0009027Foot dorsiflexor weakness1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040281 - Very frequent76
HP:0003690HP:0007340Lower limb muscle weakness1FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0003690HP:0003484Upper limb muscle weakness1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003690HP:0007340Lower limb muscle weakness1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID.1
HP:0003690HP:0003484Upper limb muscle weakness1FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H.158
HP:0003690HP:0007340Lower limb muscle weakness1FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0003690HP:0007340Lower limb muscle weakness1FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0003690HP:0009027Foot dorsiflexor weakness1FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0003690HP:0003484Upper limb muscle weakness1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0003690HP:0007340Lower limb muscle weakness1FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0003690HP:0007340Lower limb muscle weakness1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040283 - Occasional197
HP:0003690HP:0009027Foot dorsiflexor weakness1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040282 - Frequent197
HP:0003690HP:0003484Upper limb muscle weakness1FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type IIHP:0040283 - Occasional3
HP:0003690HP:0007340Lower limb muscle weakness1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent
HP:0003690HP:0007340Lower limb muscle weakness1GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0003690HP:0003484Upper limb muscle weakness1GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0003690HP:0003484Upper limb muscle weakness1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0003690HP:0003484Upper limb muscle weakness1GARS1 CL E G H26174162OMIM:601472Charcot-Marie-Tooth disease, axonal, type 2D.
HP:0003690HP:0003484Upper limb muscle weakness1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0003690HP:0007340Lower limb muscle weakness1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0003690HP:0003484Upper limb muscle weakness1GARS1 CL E G H26174162OMIM:600794Neuronopathy, distal hereditary motor, type VA.
HP:0003690HP:0007340Lower limb muscle weakness1GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0003690HP:0007340Lower limb muscle weakness1GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0003690HP:0009027Foot dorsiflexor weakness1GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A.
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003690HP:0003484Upper limb muscle weakness1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003690HP:0007340Lower limb muscle weakness1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0003690HP:0003484Upper limb muscle weakness1GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0003690HP:0009027Foot dorsiflexor weakness1GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A.108
HP:0003690HP:0003484Upper limb muscle weakness1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0003690HP:0009027Foot dorsiflexor weakness1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0003690HP:0007340Lower limb muscle weakness1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0003690HP:0007340Lower limb muscle weakness1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0003690HP:0009027Foot dorsiflexor weakness1GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040283 - Occasional107
HP:0003690HP:0007340Lower limb muscle weakness1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0003690HP:0003484Upper limb muscle weakness1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R1934
HP:0003690HP:0007340Lower limb muscle weakness1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0003690HP:0009027Foot dorsiflexor weakness1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0003690HP:0009027Foot dorsiflexor weakness1GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040281 - Very frequent173
HP:0003690HP:0007340Lower limb muscle weakness1GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040281 - Very frequent173
HP:0003690HP:0007340Lower limb muscle weakness1GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0003690HP:0003484Upper limb muscle weakness1GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0003690HP:0009027Foot dorsiflexor weakness1GYG1 CL E G H29924699ORPHA:263297Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiencyHP:0040282 - Frequent18
HP:0003690HP:0007340Lower limb muscle weakness1GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0003690HP:0009027Foot dorsiflexor weakness1HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0003690HP:0007340Lower limb muscle weakness1HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0003690HP:0007340Lower limb muscle weakness1HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0003690HP:0007340Lower limb muscle weakness1HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0003690HP:0003484Upper limb muscle weakness1HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0003690HP:0009027Foot dorsiflexor weakness1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12
HP:0003690HP:0007340Lower limb muscle weakness1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0003690HP:0009027Foot dorsiflexor weakness1HINT1 CL E G H30944912OMIM:137200Neuromyotonia and axonal neuropathy, autosomal recessive.12
HP:0003690HP:0007340Lower limb muscle weakness1HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0003690HP:0003484Upper limb muscle weakness1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0003690HP:0009027Foot dorsiflexor weakness1HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0003690HP:0007340Lower limb muscle weakness1HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0003690HP:0009027Foot dorsiflexor weakness1HSPB1 CL E G H33155246OMIM:606595Charcot-Marie-Tooth disease, axonal, type 2F.47
HP:0003690HP:0007340Lower limb muscle weakness1HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB47
HP:0003690HP:0007340Lower limb muscle weakness1HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0003690HP:0007340Lower limb muscle weakness1HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA38
HP:0003690HP:0007340Lower limb muscle weakness1HSPD1 CL E G H33295261ORPHA:100994Autosomal dominant spastic paraplegia type 13HP:0040282 - Frequent46
HP:0003690HP:0007340Lower limb muscle weakness1HSPD1 CL E G H33295261OMIM:605280Spastic paraplegia 13, autosomal dominant.46
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003690HP:0007340Lower limb muscle weakness1HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0003690HP:0007340Lower limb muscle weakness1IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0003690HP:0009027Foot dorsiflexor weakness1IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2S.209
HP:0003690HP:0009027Foot dorsiflexor weakness1INF2 CL E G H6442323791OMIM:614455Charcot-Marie-Tooth disease, dominant intermediate E.135
HP:0003690HP:0009027Foot dorsiflexor weakness1ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional127
HP:0003690HP:0009027Foot dorsiflexor weakness1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003690HP:0003484Upper limb muscle weakness1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003690HP:0003484Upper limb muscle weakness1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003690HP:0007340Lower limb muscle weakness1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003690HP:0009027Foot dorsiflexor weakness1KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B.
HP:0003690HP:0007340Lower limb muscle weakness1KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040283 - Occasional121
HP:0003690HP:0007340Lower limb muscle weakness1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent10
HP:0003690HP:0009027Foot dorsiflexor weakness1KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0003690HP:0007340Lower limb muscle weakness1KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0003690HP:0007340Lower limb muscle weakness1KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessiveHP:0040282 - Frequent276
HP:0003690HP:0009027Foot dorsiflexor weakness1KIF1B CL E G H2309516636OMIM:118210Charcot-Marie-Tooth disease, axonal, type 2A1.202
HP:0003690HP:0007340Lower limb muscle weakness1KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040282 - Frequent93
HP:0003690HP:0007340Lower limb muscle weakness1KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0003690HP:0009027Foot dorsiflexor weakness1KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0003690HP:0007340Lower limb muscle weakness1KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37HP:0040282 - Frequent
HP:0003690HP:0003484Upper limb muscle weakness1KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0003690HP:0009027Foot dorsiflexor weakness1KY CL E G H33985526576OMIM:617114MYOPATHY, MYOFIBRILLAR, 7; MFM73
HP:0003690HP:0007340Lower limb muscle weakness1L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1HP:0040282 - Frequent134
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003690HP:0003484Upper limb muscle weakness1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003690HP:0009027Foot dorsiflexor weakness1LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0003690HP:0003484Upper limb muscle weakness1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0003690HP:0009027Foot dorsiflexor weakness1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040284 - Very rare286
HP:0003690HP:0009027Foot dorsiflexor weakness1LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040282 - Frequent7
HP:0003690HP:0003484Upper limb muscle weakness1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0003690HP:0007340Lower limb muscle weakness1LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0003690HP:0003484Upper limb muscle weakness1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003690HP:0003484Upper limb muscle weakness1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003690HP:0007340Lower limb muscle weakness1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003690HP:0009027Foot dorsiflexor weakness1LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0003690HP:0003484Upper limb muscle weakness1LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0003690HP:0009027Foot dorsiflexor weakness1LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0003690HP:0007340Lower limb muscle weakness1LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0003690HP:0009027Foot dorsiflexor weakness1LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0003690HP:0003484Upper limb muscle weakness1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003690HP:0007340Lower limb muscle weakness1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003690HP:0009027Foot dorsiflexor weakness1LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1.
HP:0003690HP:0003484Upper limb muscle weakness1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0003690HP:0009027Foot dorsiflexor weakness1LRSAM1 CL E G H9067825135OMIM:614436Charcot-Marie-Tooth disease, axonal, type 2P.102
HP:0003690HP:0009027Foot dorsiflexor weakness1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0003690HP:0009027Foot dorsiflexor weakness1MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional2
HP:0003690HP:0007340Lower limb muscle weakness1MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0003690HP:0009027Foot dorsiflexor weakness1MARS1 CL E G H41416898OMIM:616280Charcot-Marie-Tooth disease, axonal, type 2U.
HP:0003690HP:0007340Lower limb muscle weakness1MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0003690HP:0009027Foot dorsiflexor weakness1MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.3
HP:0003690HP:0009027Foot dorsiflexor weakness1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040281 - Very frequent203
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003690HP:0003484Upper limb muscle weakness1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003690HP:0007340Lower limb muscle weakness1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003690HP:0009027Foot dorsiflexor weakness1MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0003690HP:0009027Foot dorsiflexor weakness1MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2A.203
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1MLIP CL E G H9052321355OMIM:620138
HP:0003690HP:0009027Foot dorsiflexor weakness1MME CL E G H43117154OMIM:617017Charcot-Marie-Tooth disease, axonal, type 2T.18
HP:0003690HP:0007340Lower limb muscle weakness1MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 4318
HP:0003690HP:0009027Foot dorsiflexor weakness1MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040282 - Frequent18
HP:0003690HP:0003484Upper limb muscle weakness1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040282 - Frequent8
HP:0003690HP:0007340Lower limb muscle weakness1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0003690HP:0009027Foot dorsiflexor weakness1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0003690HP:0009027Foot dorsiflexor weakness1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z.8
HP:0003690HP:0003484Upper limb muscle weakness1MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003690HP:0009027Foot dorsiflexor weakness1MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE.56
HP:0003690HP:0003484Upper limb muscle weakness1MPZ CL E G H43597225OMIM:607677Charcot-Marie-Tooth disease, axonal, type 2I.134
HP:0003690HP:0009027Foot dorsiflexor weakness1MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0003690HP:0003484Upper limb muscle weakness1MPZ CL E G H43597225OMIM:607791Charcot-Marie-Tooth disease, dominant intermediate D.134
HP:0003690HP:0009027Foot dorsiflexor weakness1MPZ CL E G H43597225OMIM:607736Charcot-Marie-Tooth disease, type 2J134
HP:0003690HP:0007340Lower limb muscle weakness1MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0003690HP:0009027Foot dorsiflexor weakness1MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0003690HP:0007340Lower limb muscle weakness1MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0003690HP:0007340Lower limb muscle weakness1MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36
HP:0003690HP:0007340Lower limb muscle weakness1MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040281 - Very frequent183
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0003690HP:0003484Upper limb muscle weakness1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0003690HP:0003484Upper limb muscle weakness1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003690HP:0007340Lower limb muscle weakness1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003690HP:0003484Upper limb muscle weakness1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0003690HP:0007340Lower limb muscle weakness1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0003690HP:0009027Foot dorsiflexor weakness1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0003690HP:0007340Lower limb muscle weakness1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0003690HP:0003484Upper limb muscle weakness1MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0003690HP:0009027Foot dorsiflexor weakness1MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0003690HP:0007340Lower limb muscle weakness1MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0003690HP:0007340Lower limb muscle weakness1MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0003690HP:0003484Upper limb muscle weakness1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0003690HP:0003484Upper limb muscle weakness1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0003690HP:0007340Lower limb muscle weakness1MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227
HP:0003690HP:0009027Foot dorsiflexor weakness1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040281 - Very frequent1269
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040283 - Occasional1269
HP:0003690HP:0009027Foot dorsiflexor weakness1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040281 - Very frequent1269
HP:0003690HP:0003484Upper limb muscle weakness1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0003690HP:0007340Lower limb muscle weakness1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0003690HP:0007340Lower limb muscle weakness1MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0003690HP:0009027Foot dorsiflexor weakness1MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional131
HP:0003690HP:0007340Lower limb muscle weakness1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0003690HP:0009027Foot dorsiflexor weakness1MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040282 - Frequent75
HP:0003690HP:0007340Lower limb muscle weakness1MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0003690HP:0007340Lower limb muscle weakness1NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0003690HP:0009027Foot dorsiflexor weakness1NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040282 - Frequent745
HP:0003690HP:0009027Foot dorsiflexor weakness1NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003690HP:0009027Foot dorsiflexor weakness1NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0003690HP:0007340Lower limb muscle weakness1NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003690HP:0003484Upper limb muscle weakness1NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003690HP:0003484Upper limb muscle weakness1NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040281 - Very frequent118
HP:0003690HP:0007340Lower limb muscle weakness1NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040281 - Very frequent118
HP:0003690HP:0003484Upper limb muscle weakness1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0003690HP:0007340Lower limb muscle weakness1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0003690HP:0009027Foot dorsiflexor weakness1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0003690HP:0007340Lower limb muscle weakness1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0003690HP:0009027Foot dorsiflexor weakness1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E.118
HP:0003690HP:0007340Lower limb muscle weakness1NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0003690HP:0003484Upper limb muscle weakness1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0003690HP:0007340Lower limb muscle weakness1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0003690HP:0009027Foot dorsiflexor weakness1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0003690HP:0003484Upper limb muscle weakness1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0003690HP:0007340Lower limb muscle weakness1NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant.117
HP:0003690HP:0009027Foot dorsiflexor weakness1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0003690HP:0007340Lower limb muscle weakness1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0003690HP:0003484Upper limb muscle weakness1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0003690HP:0003484Upper limb muscle weakness1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0003690HP:0007340Lower limb muscle weakness1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0003690HP:0009027Foot dorsiflexor weakness1ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 2.19
HP:0003690HP:0003484Upper limb muscle weakness1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0003690HP:0007340Lower limb muscle weakness1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0003690HP:0007340Lower limb muscle weakness1PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003690HP:0007340Lower limb muscle weakness1PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003690HP:0007340Lower limb muscle weakness1PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0003690HP:0003484Upper limb muscle weakness1PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0003690HP:0007340Lower limb muscle weakness1PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0003690HP:0003484Upper limb muscle weakness1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0003690HP:0007340Lower limb muscle weakness1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0003690HP:0007340Lower limb muscle weakness1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0003690HP:0003484Upper limb muscle weakness1PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency105
HP:0003690HP:0007340Lower limb muscle weakness1PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked.60
HP:0003690HP:0007340Lower limb muscle weakness1PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0003690HP:0007340Lower limb muscle weakness1PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0003690HP:0009027Foot dorsiflexor weakness1PMP22 CL E G H53769118OMIM:118300Charcot-Marie-Tooth disease and deafness.79
HP:0003690HP:0007340Lower limb muscle weakness1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0003690HP:0009027Foot dorsiflexor weakness1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0003690HP:0009027Foot dorsiflexor weakness1PMP22 CL E G H53769118OMIM:118220Charcot-Marie-Tooth disease, demyelinating, type 1A.79
HP:0003690HP:0009027Foot dorsiflexor weakness1PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas.79
HP:0003690HP:0007340Lower limb muscle weakness1PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0003690HP:0007340Lower limb muscle weakness1PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0003690HP:0007340Lower limb muscle weakness1PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4244
HP:0003690HP:0009027Foot dorsiflexor weakness1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040283 - Occasional65
HP:0003690HP:0007340Lower limb muscle weakness1PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z.6
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0003690HP:0009027Foot dorsiflexor weakness1POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0003690HP:0003484Upper limb muscle weakness1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003690HP:0003484Upper limb muscle weakness1POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040283 - Occasional40
HP:0003690HP:0003484Upper limb muscle weakness1PPOX CL E G H54989280ORPHA:79473Porphyria variegata41
HP:0003690HP:0007340Lower limb muscle weakness1PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0003690HP:0007340Lower limb muscle weakness1PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040281 - Very frequent69
HP:0003690HP:0007340Lower limb muscle weakness1PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0003690HP:0007340Lower limb muscle weakness1PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0003690HP:0009027Foot dorsiflexor weakness1PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas.170
HP:0003690HP:0007340Lower limb muscle weakness1RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0003690HP:0009027Foot dorsiflexor weakness1RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B.50
HP:0003690HP:0009027Foot dorsiflexor weakness1RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040282 - Frequent150
HP:0003690HP:0003484Upper limb muscle weakness1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0003690HP:0007340Lower limb muscle weakness1RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040283 - Occasional88
HP:0003690HP:0009027Foot dorsiflexor weakness1REEP1 CL E G H6505525786OMIM:62001187
HP:0003690HP:0003484Upper limb muscle weakness1REEP1 CL E G H6505525786OMIM:62001187
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040281 - Very frequent87
HP:0003690HP:0003484Upper limb muscle weakness1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0003690HP:0007340Lower limb muscle weakness1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0003690HP:0007340Lower limb muscle weakness1REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant.87
HP:0003690HP:0007340Lower limb muscle weakness1RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0003690HP:0009027Foot dorsiflexor weakness1RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0003690HP:0007340Lower limb muscle weakness1RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040281 - Very frequent25
HP:0003690HP:0007340Lower limb muscle weakness1RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant.25
HP:0003690HP:0003484Upper limb muscle weakness1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0003690HP:0009027Foot dorsiflexor weakness1SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040283 - Occasional309
HP:0003690HP:0007340Lower limb muscle weakness1SARDH CL E G H175710536ORPHA:3129Sarcosinemia4
HP:0003690HP:0007340Lower limb muscle weakness1SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0003690HP:0003484Upper limb muscle weakness1SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0003690HP:0007340Lower limb muscle weakness1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003690HP:0003484Upper limb muscle weakness1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003690HP:0009027Foot dorsiflexor weakness1SBF2 CL E G H818462135OMIM:604563Charcot-Marie-Tooth disease, type 4B2.180
HP:0003690HP:0003484Upper limb muscle weakness1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0003690HP:0009027Foot dorsiflexor weakness1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0003690HP:0007340Lower limb muscle weakness1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0003690HP:0007340Lower limb muscle weakness1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0003690HP:0003484Upper limb muscle weakness1SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0003690HP:0007340Lower limb muscle weakness1SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0003690HP:0007340Lower limb muscle weakness1SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0003690HP:0009027Foot dorsiflexor weakness1SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional144
HP:0003690HP:0003484Upper limb muscle weakness1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0003690HP:0009027Foot dorsiflexor weakness1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040282 - Frequent493
HP:0003690HP:0003484Upper limb muscle weakness1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0003690HP:0009027Foot dorsiflexor weakness1SIGMAR1 CL E G H102808157OMIM:605726Spinal muscular atrophy, distal, autosomal recessive, 2.6
HP:0003690HP:0003484Upper limb muscle weakness1SLC12A6 CL E G H999010914OMIM:620068163
HP:0003690HP:0009027Foot dorsiflexor weakness1SLC12A6 CL E G H999010914OMIM:620068163
HP:0003690HP:0007340Lower limb muscle weakness1SLC12A6 CL E G H999010914OMIM:620068163
HP:0003690HP:0007340Lower limb muscle weakness1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003690HP:0007340Lower limb muscle weakness1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0003690HP:0009027Foot dorsiflexor weakness1SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0003690HP:0007340Lower limb muscle weakness1SLC33A1 CL E G H919795ORPHA:171863Autosomal dominant spastic paraplegia type 42HP:0040282 - Frequent48
HP:0003690HP:0007340Lower limb muscle weakness1SLC5A6 CL E G H888411041OMIM:619903
HP:0003690HP:0007340Lower limb muscle weakness1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0003690HP:0007340Lower limb muscle weakness1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0003690HP:0003484Upper limb muscle weakness1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0003690HP:0003484Upper limb muscle weakness1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0003690HP:0007340Lower limb muscle weakness1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0003690HP:0009027Foot dorsiflexor weakness1SMCHD1 CL E G H2334729090OMIM:158901FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2174
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0003690HP:0007340Lower limb muscle weakness1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0003690HP:0007340Lower limb muscle weakness1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0003690HP:0007340Lower limb muscle weakness1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0003690HP:0003484Upper limb muscle weakness1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0003690HP:0007340Lower limb muscle weakness1SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003690HP:0003484Upper limb muscle weakness1SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003690HP:0007340Lower limb muscle weakness1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0003690HP:0007340Lower limb muscle weakness1SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0003690HP:0003484Upper limb muscle weakness1SPART CL E G H2311118514ORPHA:101000Autosomal recessive spastic paraplegia type 20HP:0040282 - Frequent66
HP:0003690HP:0007340Lower limb muscle weakness1SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0003690HP:0007340Lower limb muscle weakness1SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040282 - Frequent208
HP:0003690HP:0007340Lower limb muscle weakness1SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0003690HP:0007340Lower limb muscle weakness1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040281 - Very frequent287
HP:0003690HP:0009027Foot dorsiflexor weakness1SPG11 CL E G H8020811226OMIM:616668Charcot-Marie-Tooth disease, axonal, type 2X.287
HP:0003690HP:0007340Lower limb muscle weakness1SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0003690HP:0007340Lower limb muscle weakness1SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040282 - Frequent28
HP:0003690HP:0007340Lower limb muscle weakness1SPG21 CL E G H5132420373OMIM:248900Mast syndrome.28
HP:0003690HP:0007340Lower limb muscle weakness1SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0003690HP:0003484Upper limb muscle weakness1SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0003690HP:0003484Upper limb muscle weakness1SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040283 - Occasional171
HP:0003690HP:0007340Lower limb muscle weakness1SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0003690HP:0009027Foot dorsiflexor weakness1SPTLC1 CL E G H1055811277ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent54
HP:0003690HP:0009027Foot dorsiflexor weakness1SPTLC2 CL E G H951711278ORPHA:36386Hereditary sensory and autonomic neuropathy type 1HP:0040282 - Frequent149
HP:0003690HP:0007340Lower limb muscle weakness1SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0003690HP:0009027Foot dorsiflexor weakness1SQSTM1 CL E G H887811280ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent62
HP:0003690HP:0009027Foot dorsiflexor weakness1SQSTM1 CL E G H887811280OMIM:617158MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV62
HP:0003690HP:0003484Upper limb muscle weakness1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0003690HP:0007340Lower limb muscle weakness1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0003690HP:0003484Upper limb muscle weakness1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0003690HP:0007340Lower limb muscle weakness1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040282 - Frequent1129
HP:0003690HP:0003484Upper limb muscle weakness1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0003690HP:0009027Foot dorsiflexor weakness1SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0003690HP:0007340Lower limb muscle weakness1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0003690HP:0009027Foot dorsiflexor weakness1TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0003690HP:0009027Foot dorsiflexor weakness1TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0003690HP:0007340Lower limb muscle weakness1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0003690HP:0009027Foot dorsiflexor weakness1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0003690HP:0003484Upper limb muscle weakness1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0003690HP:0007340Lower limb muscle weakness1TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 152
HP:0003690HP:0007340Lower limb muscle weakness1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0003690HP:0003484Upper limb muscle weakness1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0003690HP:0003484Upper limb muscle weakness1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040281 - Very frequent18
HP:0003690HP:0007340Lower limb muscle weakness1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040281 - Very frequent18
HP:0003690HP:0009027Foot dorsiflexor weakness1TIA1 CL E G H707211802ORPHA:603Distal myopathy, Welander typeHP:0040281 - Very frequent5
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0003690HP:0003484Upper limb muscle weakness1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0003690HP:0007340Lower limb muscle weakness1TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0003690HP:0009027Foot dorsiflexor weakness1TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional54
HP:0003690HP:0009027Foot dorsiflexor weakness1TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent54
HP:0003690HP:0007340Lower limb muscle weakness1TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0003690HP:0009027Foot dorsiflexor weakness1TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040283 - Occasional108
HP:0003690HP:0007340Lower limb muscle weakness1TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0003690HP:0007340Lower limb muscle weakness1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0003690HP:0003484Upper limb muscle weakness1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8HP:0040281 - Very frequent108
HP:0003690HP:0009027Foot dorsiflexor weakness1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC.214
HP:0003690HP:0003484Upper limb muscle weakness1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003690HP:0007340Lower limb muscle weakness1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003690HP:0007340Lower limb muscle weakness1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0003690HP:0007340Lower limb muscle weakness1TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0003690HP:0007340Lower limb muscle weakness1TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0003690HP:0009027Foot dorsiflexor weakness1TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040282 - Frequent7128
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003690HP:0009027Foot dorsiflexor weakness1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003690HP:0009027Foot dorsiflexor weakness1TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040282 - Frequent7128
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040283 - Occasional7128
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0003690HP:0009027Foot dorsiflexor weakness1TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0003690HP:0007340Lower limb muscle weakness1UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040281 - Very frequent
HP:0003690HP:0007340Lower limb muscle weakness1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0003690HP:0009027Foot dorsiflexor weakness1VCP CL E G H741512666ORPHA:329478Adult-onset distal myopathy due to VCP mutationHP:0040282 - Frequent63
HP:0003690HP:0007340Lower limb muscle weakness1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003690HP:0003484Upper limb muscle weakness1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003690HP:0009027Foot dorsiflexor weakness1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040282 - Frequent63
HP:0003690HP:0003484Upper limb muscle weakness1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0003690HP:0007340Lower limb muscle weakness1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0003690HP:0007340Lower limb muscle weakness1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0003690HP:0003484Upper limb muscle weakness1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy.10
HP:0003690HP:0003484Upper limb muscle weakness1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003690HP:0007340Lower limb muscle weakness1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003690HP:0009027Foot dorsiflexor weakness1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003690HP:0008994Proximal muscle weakness in lower limbs1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003690HP:0007340Lower limb muscle weakness1WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 8HP:0040282 - Frequent83
HP:0003690HP:0007340Lower limb muscle weakness1WASHC5 CL E G H989728984OMIM:603563Spastic paraplegia 8, autosomal dominant.83
HP:0003690HP:0003484Upper limb muscle weakness1YARS1 CL E G H856512840OMIM:608323Charcot-Marie-Tooth disease, dominant intermediate C.
HP:0003690HP:0003484Upper limb muscle weakness1ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040282 - Frequent189
HP:0003690HP:0007340Lower limb muscle weakness1ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive.189
HP:0003690HP:0007340Lower limb muscle weakness1ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant.52
HP:0003690HP:0009053Distal lower limb muscle weakness2ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040281 - Very frequent135
HP:0003690HP:0031189Wrist drop2ACTA1 CL E G H58129OMIM:616852Myopathy, scapulohumeroperoneal.96
HP:0003690HP:0003731Quadriceps muscle weakness2ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0003690HP:0009053Distal lower limb muscle weakness2ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0003690HP:0009053Distal lower limb muscle weakness2AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0003690HP:0009053Distal lower limb muscle weakness2ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040281 - Very frequent304
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0003690HP:0009053Distal lower limb muscle weakness2ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040281 - Very frequent304
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040283 - Occasional304
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003690HP:0009053Distal lower limb muscle weakness2ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040281 - Very frequent71
HP:0003690HP:0009053Distal lower limb muscle weakness2ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040282 - Frequent
HP:0003690HP:0009053Distal lower limb muscle weakness2BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0003690HP:0009053Distal lower limb muscle weakness2BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0003690HP:0009053Distal lower limb muscle weakness2BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0003690HP:0031189Wrist drop2CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0003690HP:0009053Distal lower limb muscle weakness2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0003690HP:0009053Distal lower limb muscle weakness2CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0003690HP:0009053Distal lower limb muscle weakness2CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040283 - Occasional11
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0003690HP:0009053Distal lower limb muscle weakness2CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040281 - Very frequent11
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0003690HP:0003731Quadriceps muscle weakness2COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040282 - Frequent65
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0003690HP:0009053Distal lower limb muscle weakness2COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0003690HP:0003731Quadriceps muscle weakness2COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040282 - Frequent442
HP:0003690HP:0003731Quadriceps muscle weakness2COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040282 - Frequent478
HP:0003690HP:0003731Quadriceps muscle weakness2COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040282 - Frequent702
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040282 - Frequent72
HP:0003690HP:0009053Distal lower limb muscle weakness2CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040282 - Frequent1
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0003690HP:0009053Distal lower limb muscle weakness2DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0003690HP:0009053Distal lower limb muscle weakness2DES CL E G H16742770ORPHA:98909DesminopathyHP:0040281 - Very frequent263
HP:0003690HP:0009053Distal lower limb muscle weakness2DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q12
HP:0003690HP:0003731Quadriceps muscle weakness2DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003690HP:0009053Distal lower limb muscle weakness2DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0003690HP:0009053Distal lower limb muscle weakness2DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003690HP:0009053Distal lower limb muscle weakness2DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0003690HP:0003731Quadriceps muscle weakness2DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0003690HP:0009053Distal lower limb muscle weakness2EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0003690HP:0009053Distal lower limb muscle weakness2EMILIN1 CL E G H1111719880OMIM:6200802
HP:0003690HP:0009053Distal lower limb muscle weakness2EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0003690HP:0009053Distal lower limb muscle weakness2FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003690HP:0009053Distal lower limb muscle weakness2FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0003690HP:0009053Distal lower limb muscle weakness2FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040282 - Frequent197
HP:0003690HP:0009053Distal lower limb muscle weakness2GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003690HP:0009053Distal lower limb muscle weakness2GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003690HP:0003731Quadriceps muscle weakness2GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003690HP:0003731Quadriceps muscle weakness2GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040284 - Very rare
HP:0003690HP:0009053Distal lower limb muscle weakness2GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0003690HP:0009053Distal lower limb muscle weakness2GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0003690HP:0009053Distal lower limb muscle weakness2GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0003690HP:0009053Distal lower limb muscle weakness2GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0003690HP:0009053Distal lower limb muscle weakness2GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0003690HP:0009053Distal lower limb muscle weakness2GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0003690HP:0009053Distal lower limb muscle weakness2HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040281 - Very frequent
HP:0003690HP:0009053Distal lower limb muscle weakness2HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040281 - Very frequent12
HP:0003690HP:0009053Distal lower limb muscle weakness2HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040281 - Very frequent11
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0003690HP:0009053Distal lower limb muscle weakness2HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB.47
HP:0003690HP:0009053Distal lower limb muscle weakness2HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0003690HP:0009053Distal lower limb muscle weakness2HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA.38
HP:0003690HP:0003731Quadriceps muscle weakness2HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003690HP:0009053Distal lower limb muscle weakness2IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003690HP:0009053Distal lower limb muscle weakness2JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003690HP:0009053Distal lower limb muscle weakness2KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003690HP:0031189Wrist drop2LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040283 - Occasional286
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040284 - Very rare286
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040282 - Frequent7
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003690HP:0009053Distal lower limb muscle weakness2LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003690HP:0009053Distal lower limb muscle weakness2LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0003690HP:0009053Distal lower limb muscle weakness2MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040283 - Occasional140
HP:0003690HP:0009053Distal lower limb muscle weakness2MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0003690HP:0003731Quadriceps muscle weakness2MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0003690HP:0009053Distal lower limb muscle weakness2MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003690HP:0009053Distal lower limb muscle weakness2MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040281 - Very frequent18
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0003690HP:0009053Distal lower limb muscle weakness2MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040281 - Very frequent8
HP:0003690HP:0031189Wrist drop2MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z8
HP:0003690HP:0009053Distal lower limb muscle weakness2MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003690HP:0009053Distal lower limb muscle weakness2MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003690HP:0009053Distal lower limb muscle weakness2MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0003690HP:0009053Distal lower limb muscle weakness2MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0003690HP:0009053Distal lower limb muscle weakness2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0003690HP:0009053Distal lower limb muscle weakness2MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0003690HP:0009053Distal lower limb muscle weakness2MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0003690HP:0009053Distal lower limb muscle weakness2NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040281 - Very frequent82
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0003690HP:0009053Distal lower limb muscle weakness2NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0003690HP:0009053Distal lower limb muscle weakness2NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0003690HP:0031189Wrist drop2NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040284 - Very rare
HP:0003690HP:0009053Distal lower limb muscle weakness2NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0003690HP:0003731Quadriceps muscle weakness2PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003690HP:0009053Distal lower limb muscle weakness2PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0003690HP:0031189Wrist drop2PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040284 - Very rare105
HP:0003690HP:0009053Distal lower limb muscle weakness2PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0003690HP:0009053Distal lower limb muscle weakness2PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0003690HP:0009053Distal lower limb muscle weakness2PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040281 - Very frequent79
HP:0003690HP:0009053Distal lower limb muscle weakness2PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0003690HP:0009053Distal lower limb muscle weakness2PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4HP:0040283 - Occasional244
HP:0003690HP:0009053Distal lower limb muscle weakness2PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0003690HP:0003731Quadriceps muscle weakness2POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003690HP:0003731Quadriceps muscle weakness2POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040282 - Frequent41
HP:0003690HP:0009053Distal lower limb muscle weakness2PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0003690HP:0009053Distal lower limb muscle weakness2RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0003690HP:0031189Wrist drop2REEP1 CL E G H6505525786OMIM:62001187
HP:0003690HP:0009053Distal lower limb muscle weakness2REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0003690HP:0003731Quadriceps muscle weakness2RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0003690HP:0009053Distal lower limb muscle weakness2SARDH CL E G H175710536ORPHA:3129Sarcosinemia4
HP:0003690HP:0009053Distal lower limb muscle weakness2SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0003690HP:0009053Distal lower limb muscle weakness2SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0003690HP:0009053Distal lower limb muscle weakness2SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0003690HP:0009053Distal lower limb muscle weakness2SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2SLC12A6 CL E G H999010914OMIM:620068163
HP:0003690HP:0009053Distal lower limb muscle weakness2SLC12A6 CL E G H999010914OMIM:620068163
HP:0003690HP:0009053Distal lower limb muscle weakness2SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0003690HP:0009053Distal lower limb muscle weakness2SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional28
HP:0003690HP:0003731Quadriceps muscle weakness2SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0003690HP:0009053Distal lower limb muscle weakness2SLC5A6 CL E G H888411041OMIM:619903
HP:0003690HP:0009053Distal lower limb muscle weakness2SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional9
HP:0003690HP:0009053Distal lower limb muscle weakness2SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003690HP:0009053Distal lower limb muscle weakness2SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0003690HP:0009053Distal lower limb muscle weakness2SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0003690HP:0009053Distal lower limb muscle weakness2SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0003690HP:0009053Distal lower limb muscle weakness2SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional4
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0003690HP:0009053Distal lower limb muscle weakness2TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0003690HP:0009053Distal lower limb muscle weakness2TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0003690HP:0009053Distal lower limb muscle weakness2TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0003690HP:0003731Quadriceps muscle weakness2TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0003690HP:0009053Distal lower limb muscle weakness2TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003690HP:0009053Distal lower limb muscle weakness2TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0003690HP:0009053Distal lower limb muscle weakness2TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0003690HP:0009053Distal lower limb muscle weakness2TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0003690HP:0003731Quadriceps muscle weakness2TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003690HP:0003731Quadriceps muscle weakness2TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040283 - Occasional7128
HP:0003690HP:0003731Quadriceps muscle weakness2TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0003690HP:0009053Distal lower limb muscle weakness2VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003690HP:0009053Distal lower limb muscle weakness2VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0003690HP:0003731Quadriceps muscle weakness2VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0003690HP:0009053Distal lower limb muscle weakness2VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0003690HP:0008997Proximal muscle weakness in upper limbs2VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003690HP:0009053Distal lower limb muscle weakness2VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003690HP:0031108Triceps weakness3ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0003690HP:0031108Triceps weakness3AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0003690HP:0031108Triceps weakness3AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional1
HP:0003690HP:0031108Triceps weakness3CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional74
HP:0003690HP:0031108Triceps weakness3CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional53
HP:0003690HP:0031108Triceps weakness3CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional88
HP:0003690HP:0031108Triceps weakness3CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional139
HP:0003690HP:0031108Triceps weakness3COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0003690HP:0031108Triceps weakness3DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional91
HP:0003690HP:0008963Tibialis muscle weakness3DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onsetHP:0040282 - Frequent600
HP:0003690HP:0031108Triceps weakness3DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040283 - Occasional600
HP:0003690HP:0008963Tibialis muscle weakness3DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0003690HP:0031108Triceps weakness3FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID.1
HP:0003690HP:0011727Peroneal muscle weakness3GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003690HP:0008963Tibialis muscle weakness3GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0003690HP:0008963Tibialis muscle weakness3GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040281 - Very frequent173
HP:0003690HP:0011727Peroneal muscle weakness3GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0003690HP:0031108Triceps weakness3JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003690HP:0011727Peroneal muscle weakness3LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0003690HP:0031108Triceps weakness3LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional124
HP:0003690HP:0031108Triceps weakness3MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0003690HP:0008963Tibialis muscle weakness3MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0003690HP:0031108Triceps weakness3MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional72
HP:0003690HP:0031108Triceps weakness3MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0003690HP:0008963Tibialis muscle weakness3MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040281 - Very frequent1269
HP:0003690HP:0008963Tibialis muscle weakness3NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0003690HP:0011727Peroneal muscle weakness3PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0003690HP:0031108Triceps weakness3POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0003690HP:0031108Triceps weakness3RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional73
HP:0003690HP:0011727Peroneal muscle weakness3SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0003690HP:0031108Triceps weakness3SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional263
HP:0003690HP:0011727Peroneal muscle weakness3TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0003690HP:0008963Tibialis muscle weakness3TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040283 - Occasional7128


Genes (301) :AARS1 ABCD1 ACOX1 ACTA1 ACTN2 ADAR ADSS1 AFG3L2 AGRN AK9 AKT1 ALAD ALDH18A1 AMPD1 AMPD3 ANO5 ANXA11 AP5Z1 AR ASAH1 ATL1 ATL3 ATP1A1 ATP5MC3 ATP6 ATP7B BAP1 BICD2 BIN1 BSCL2 BTD BVES CACNA1S CADM3 CAPN1 CAPN3 CAV1 CCND1 CCNF CD59 CFL2 CHAT CHCHD10 CHRNA1 CHRNB1 CHRND CHRNE COA7 COL12A1 COL13A1 COL25A1 COL6A1 COL6A2 COL6A3 COLQ COX1 COX20 COX3 COX6A1 CPOX CPT1C CRPPA CRYAB CYP27A1 CYP7B1 DCTN1 DDHD1 DDHD2 DES DGUOK DHTKD1 DMD DMXL2 DNAJB2 DNM2 DNMT3B DOK7 DSTYK DYM DYNC1H1 DYSF EGR2 EMD EMILIN1 ERGIC1 ERLIN2 EXTL3 FA2H FBLN5 FBXO38 FGD4 FHL1 FLI1 FLNC FUZ GAA GABRA3 GALC GAN GARS1 GBA2 GBF1 GDAP1 GFAP GIPC1 GJB1 GMPPB GNB1 GNB2 GNE GYG1 HACD1 HADHA HADHB HARS1 HEXB HINT1 HK1 HMBS HNRNPA1 HSPB1 HSPB3 HSPB8 HSPD1 HSPG2 HYCC1 IBA57 IGHMBP2 INF2 ITGA7 JAG1 JAG2 KARS1 KBTBD13 KCNJ10 KCNJ18 KIF1A KIF1B KIF5A KLHL41 KPNA3 KY L1CAM LAMA2 LBR LDB3 LIG3 LIPE LMNA LMOD3 LPIN1 LRP12 LRP4 LRSAM1 LYST MAP3K20 MAPT MARS1 MATR3 MCM3AP MFN2 MLIP MME MORC2 MPV17 MPZ MRPS2 MTAP MTHFR MTMR14 MTRFR MTTP MUSK MYF6 MYH14 MYH7 MYL2 MYO9A MYOT MYPN NDRG1 NEB NEFH NEFL NF1 NF2 NIPA1 NOTCH2NLC NUP62 ORAI1 PABPN1 PDGFB PDK3 PEX7 PHKA1 PHYH PI4KA PIEZO2 PIGN PIK3CA PLEC PLOD1 PLP1 PMP2 PMP22 PNKP PNPLA2 PNPLA6 POGLUT1 POLG POLG2 POMT1 POPDC3 POU3F4 PPOX PRNP PRORP PRX PYROXD1 RAB7A RAI1 RAPSN RASA1 REEP1 RNASEH1 RNF170 RRM2B RTN2 RYR1 SACS SARDH SBF1 SBF2 SCN4A SCO2 SCYL1 SCYL2 SDHA SECISBP2 SELENON SGCG SH3TC2 SIGMAR1 SLC12A6 SLC18A3 SLC25A1 SLC25A21 SLC25A4 SLC33A1 SLC52A2 SLC5A6 SLC5A7 SMARCB1 SMARCE1 SMCHD1 SMN1 SMN2 SMO SMPX SNAP25 SORD SPART SPAST SPG11 SPG21 SPG7 SPTLC1 SPTLC2 SQSTM1 SUFU SYNE1 SYNE2 SYT2 TBCE TCAP TDP1 TERT TFG TIA1 TK2 TMEM43 TPM2 TPM3 TRAF7 TRIM32 TRIP4 TRPV4 TTN TWNK TYMP UBAP1 VAMP1 VCP VHL VMA21 VPS13A VWA1 WASHC5 YARS1 ZFYVE26 ZFYVE27

Diseases (342) :OMIM:613287 OMIM:300100 ORPHA:139399 OMIM:618960 ORPHA:171439 ORPHA:2020 OMIM:616852 OMIM:161800 ORPHA:171436 OMIM:618655 ORPHA:225154 ORPHA:482601 ORPHA:313772 ORPHA:98913 ORPHA:98914 ORPHA:2495 ORPHA:100924 OMIM:616586 ORPHA:45 ORPHA:206549 ORPHA:399096 OMIM:619733 ORPHA:306511 OMIM:613647 OMIM:313200 ORPHA:2590 ORPHA:100984 ORPHA:36386 OMIM:182600 OMIM:618036 OMIM:619681 ORPHA:320360 ORPHA:905 OMIM:277900 OMIM:615290 ORPHA:169189 ORPHA:100998 ORPHA:139536 OMIM:619112 OMIM:270685 ORPHA:79241 OMIM:616812 ORPHA:79102 OMIM:619519 ORPHA:488594 OMIM:616907 ORPHA:267 OMIM:253600 OMIM:606721 ORPHA:892 OMIM:619141 OMIM:612300 OMIM:610687 ORPHA:457050 ORPHA:276435 OMIM:616209 OMIM:601462 OMIM:608930 OMIM:616313 OMIM:605809 OMIM:618387 ORPHA:610 ORPHA:1143 OMIM:603034 ORPHA:99845 OMIM:619054 OMIM:616039 ORPHA:79273 ORPHA:444099 ORPHA:352479 ORPHA:399058 OMIM:608810 OMIM:213700 ORPHA:100986 OMIM:270800 OMIM:607641 ORPHA:101008 OMIM:609340 OMIM:615033 ORPHA:98909 OMIM:181400 ORPHA:329314 OMIM:615025 ORPHA:206546 ORPHA:453533 OMIM:614881 OMIM:160150 OMIM:619478 OMIM:270750 ORPHA:239 OMIM:614228 OMIM:158600 ORPHA:178400 ORPHA:268 OMIM:254130 ORPHA:45448 OMIM:607678 OMIM:145900 OMIM:605253 ORPHA:98863 OMIM:620080 OMIM:611225 ORPHA:508533 ORPHA:171629 OMIM:619764 OMIM:615575 OMIM:609311 OMIM:300695 ORPHA:370348 ORPHA:63273 ORPHA:1136 OMIM:232300 ORPHA:206448 ORPHA:206443 ORPHA:643 OMIM:601472 OMIM:600794 OMIM:619042 OMIM:614409 OMIM:606483 ORPHA:101097 ORPHA:99948 OMIM:607706 OMIM:608340 ORPHA:363722 ORPHA:98897 OMIM:302800 ORPHA:1175 ORPHA:363623 OMIM:616973 OMIM:619503 ORPHA:602 OMIM:605820 ORPHA:263297 OMIM:616199 ORPHA:746 ORPHA:488333 ORPHA:309169 ORPHA:324442 OMIM:137200 ORPHA:99953 ORPHA:79276 OMIM:615424 ORPHA:99940 OMIM:606595 OMIM:608634 OMIM:613376 OMIM:158590 ORPHA:100994 OMIM:605280 OMIM:255800 OMIM:610532 ORPHA:468661 OMIM:616155 OMIM:604320 OMIM:614455 OMIM:619574 OMIM:619566 OMIM:613641 OMIM:609273 ORPHA:199343 OMIM:614213 OMIM:610357 OMIM:118210 ORPHA:100991 OMIM:604187 ORPHA:171612 ORPHA:496689 OMIM:617114 ORPHA:306617 OMIM:618138 OMIM:169400 ORPHA:98912 ORPHA:298 ORPHA:435660 OMIM:615980 ORPHA:98853 ORPHA:98855 ORPHA:98856 OMIM:605588 OMIM:181350 OMIM:164310 OMIM:614436 OMIM:214500 ORPHA:240094 OMIM:616280 OMIM:606070 OMIM:618124 ORPHA:99947 OMIM:617087 OMIM:609260 OMIM:601152 OMIM:620138 OMIM:617017 ORPHA:497764 ORPHA:466768 OMIM:616688 OMIM:618400 OMIM:607677 OMIM:118200 OMIM:607791 OMIM:607736 ORPHA:3115 OMIM:617950 OMIM:112250 ORPHA:395 ORPHA:320375 ORPHA:254930 OMIM:615035 ORPHA:14 ORPHA:397744 ORPHA:59135 ORPHA:437572 OMIM:160500 ORPHA:266 ORPHA:171881 ORPHA:99950 ORPHA:399103 OMIM:256030 OMIM:616924 ORPHA:99939 ORPHA:101085 OMIM:607684 OMIM:162210 ORPHA:637 OMIM:600363 OMIM:619473 OMIM:615883 OMIM:164300 ORPHA:352675 OMIM:266500 OMIM:300559 OMIM:619621 OMIM:617146 ORPHA:280633 ORPHA:254361 ORPHA:1900 OMIM:312920 OMIM:618279 ORPHA:98916 OMIM:118300 ORPHA:90658 OMIM:118220 ORPHA:459033 ORPHA:98908 OMIM:612020 OMIM:617232 ORPHA:254892 OMIM:157640 OMIM:610131 ORPHA:86812 OMIM:618848 ORPHA:1435 ORPHA:79473 OMIM:137440 ORPHA:356 OMIM:619737 OMIM:614895 OMIM:617258 OMIM:600882 ORPHA:477817 ORPHA:90307 OMIM:620011 ORPHA:101011 OMIM:610250 ORPHA:329336 OMIM:619686 ORPHA:100993 OMIM:604805 ORPHA:98 ORPHA:3129 OMIM:615284 ORPHA:99956 OMIM:604563 ORPHA:521411 ORPHA:466794 OMIM:619259 ORPHA:171706 ORPHA:353 ORPHA:99949 OMIM:601596 OMIM:614373 OMIM:605726 OMIM:620068 OMIM:218000 OMIM:618811 ORPHA:171863 OMIM:614707 OMIM:619903 OMIM:158901 OMIM:253300 OMIM:253400 OMIM:301075 OMIM:618912 ORPHA:101000 OMIM:275900 ORPHA:100985 OMIM:182601 ORPHA:2822 OMIM:616668 OMIM:604360 ORPHA:101001 OMIM:248900 OMIM:607259 ORPHA:99013 OMIM:613640 ORPHA:603 OMIM:617158 ORPHA:88644 OMIM:616040 ORPHA:496756 OMIM:617207 OMIM:601954 ORPHA:94124 ORPHA:90117 OMIM:619133 OMIM:609560 OMIM:609285 OMIM:609284 OMIM:254110 ORPHA:1878 ORPHA:486815 OMIM:606071 OMIM:181405 OMIM:600175 ORPHA:178464 OMIM:603689 ORPHA:609 OMIM:609286 ORPHA:329478 OMIM:613954 ORPHA:435387 OMIM:167320 OMIM:310440 OMIM:200150 OMIM:619216 ORPHA:100989 OMIM:603563 OMIM:608323 ORPHA:100996 OMIM:270700 OMIM:610244
 

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