Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature of the limbs (HP:0009127)help
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Limb muscle weakness (HP:0003690)help
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Lower limb muscle weakness (HP:0007340)help
Term ID: 7340
Name: Lower limb muscle weakness
Synonym: Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs
Definition: Weakness of the muscles of the legs.
Comments:
Reference: HP:0007340
Genes and Diseases:
 
       Child Nodes:
........expandDistal lower limb muscle weakness (HP:0009053) help
................... HP:0008963 Tibialis muscle weakness
................... HP:0011727 Peroneal muscle weakness

 Sister Nodes: 
..expandFoot dorsiflexor weakness (HP:0009027) help
..expandProximal muscle weakness in lower limbs (HP:0008994) help
..expandUpper limb muscle weakness (HP:0003484) 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:0007340HP:0007340Lower limb muscle weakness0AARS1 CL E G H1620OMIM:613287Charcot-Marie-Tooth disease, axonal, type 2N
HP:0007340HP:0007340Lower limb muscle weakness0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0007340HP:0007340Lower limb muscle weakness0ABCD1 CL E G H21561ORPHA:139399Adrenomyeloneuropathy135
HP:0007340HP:0007340Lower limb muscle weakness0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional116
HP:0007340HP:0007340Lower limb muscle weakness0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0007340HP:0007340Lower limb muscle weakness0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0007340HP:0007340Lower limb muscle weakness0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromes127
HP:0007340HP:0007340Lower limb muscle weakness0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0007340HP:0007340Lower limb muscle weakness0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0007340HP:0007340Lower limb muscle weakness0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0007340HP:0007340Lower limb muscle weakness0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040282 - Frequent165
HP:0007340HP:0007340Lower limb muscle weakness0AP5Z1 CL E G H990722197OMIM:613647Spastic paraplegia 48, autosomal recessive.165
HP:0007340HP:0007340Lower limb muscle weakness0ASAH1 CL E G H427735ORPHA:2590Spinal muscular atrophy-progressive myoclonic epilepsy syndromeHP:0040281 - Very frequent78
HP:0007340HP:0007340Lower limb muscle weakness0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 371
HP:0007340HP:0007340Lower limb muscle weakness0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant.71
HP:0007340HP:0007340Lower limb muscle weakness0ATP5MC3 CL E G H518843OMIM:619681DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0007340HP:0007340Lower limb muscle weakness0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional
HP:0007340HP:0007340Lower limb muscle weakness0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegia
HP:0007340HP:0007340Lower limb muscle weakness0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0007340HP:0007340Lower limb muscle weakness0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0007340HP:0007340Lower limb muscle weakness0BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5105
HP:0007340HP:0007340Lower limb muscle weakness0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0007340HP:0007340Lower limb muscle weakness0BSCL2 CL E G H2658015832OMIM:270685Spastic paraplegia 17.105
HP:0007340HP:0007340Lower limb muscle weakness0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent247
HP:0007340HP:0007340Lower limb muscle weakness0CAPN1 CL E G H8231476ORPHA:488594Autosomal recessive spastic paraplegia type 76HP:0040282 - Frequent4
HP:0007340HP:0007340Lower limb muscle weakness0CAPN1 CL E G H8231476OMIM:616907SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG764
HP:0007340HP:0007340Lower limb muscle weakness0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0007340HP:0007340Lower limb muscle weakness0CAPN3 CL E G H8251480OMIM:253600Muscular dystrophy, limb-girdle, type 2A323
HP:0007340HP:0007340Lower limb muscle weakness0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 7.11
HP:0007340HP:0007340Lower limb muscle weakness0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0007340HP:0007340Lower limb muscle weakness0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromes65
HP:0007340HP:0007340Lower limb muscle weakness0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0007340HP:0007340Lower limb muscle weakness0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0007340HP:0007340Lower limb muscle weakness0CHRNA1 CL E G H11341955OMIM:601462Myasthenic syndrome, congenital, 1A, slow-channel74
HP:0007340HP:0007340Lower limb muscle weakness0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromes6
HP:0007340HP:0007340Lower limb muscle weakness0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent3
HP:0007340HP:0007340Lower limb muscle weakness0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0007340HP:0007340Lower limb muscle weakness0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0007340HP:0007340Lower limb muscle weakness0CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 731
HP:0007340HP:0007340Lower limb muscle weakness0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0007340HP:0007340Lower limb muscle weakness0CYP7B1 CL E G H94202652ORPHA:100986Autosomal recessive spastic paraplegia type 5AHP:0040281 - Very frequent57
HP:0007340HP:0007340Lower limb muscle weakness0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive.57
HP:0007340HP:0007340Lower limb muscle weakness0DCTN1 CL E G H16392711OMIM:607641Neuronopathy, distal hereditary motor, type VIIB.86
HP:0007340HP:0007340Lower limb muscle weakness0DDHD1 CL E G H8082119714ORPHA:101008Autosomal recessive spastic paraplegia type 28HP:0040282 - Frequent35
HP:0007340HP:0007340Lower limb muscle weakness0DDHD1 CL E G H8082119714OMIM:609340Spastic paraplegia 28, autosomal recessive.35
HP:0007340HP:0007340Lower limb muscle weakness0DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive.29
HP:0007340HP:0007340Lower limb muscle weakness0DES CL E G H16742770ORPHA:98909Desminopathy263
HP:0007340HP:0007340Lower limb muscle weakness0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040282 - Frequent57
HP:0007340HP:0007340Lower limb muscle weakness0DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q12
HP:0007340HP:0007340Lower limb muscle weakness0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0007340HP:0007340Lower limb muscle weakness0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 23.13
HP:0007340HP:0007340Lower limb muscle weakness0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0007340HP:0007340Lower limb muscle weakness0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040282 - Frequent600
HP:0007340HP:0007340Lower limb muscle weakness0DYSF CL E G H82913097OMIM:254130Miyoshi muscular dystrophy 1.600
HP:0007340HP:0007340Lower limb muscle weakness0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0007340HP:0007340Lower limb muscle weakness0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0007340HP:0007340Lower limb muscle weakness0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0007340HP:0007340Lower limb muscle weakness0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0007340HP:0007340Lower limb muscle weakness0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0007340HP:0007340Lower limb muscle weakness0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0007340HP:0007340Lower limb muscle weakness0FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0007340HP:0007340Lower limb muscle weakness0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID.1
HP:0007340HP:0007340Lower limb muscle weakness0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0007340HP:0007340Lower limb muscle weakness0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0007340HP:0007340Lower limb muscle weakness0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0007340HP:0007340Lower limb muscle weakness0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0007340HP:0007340Lower limb muscle weakness0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent
HP:0007340HP:0007340Lower limb muscle weakness0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0007340HP:0007340Lower limb muscle weakness0GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5
HP:0007340HP:0007340Lower limb muscle weakness0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0007340HP:0007340Lower limb muscle weakness0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0007340HP:0007340Lower limb muscle weakness0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0007340HP:0007340Lower limb muscle weakness0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0007340HP:0007340Lower limb muscle weakness0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0007340HP:0007340Lower limb muscle weakness0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0007340HP:0007340Lower limb muscle weakness0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0007340HP:0007340Lower limb muscle weakness0GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040281 - Very frequent173
HP:0007340HP:0007340Lower limb muscle weakness0GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0007340HP:0007340Lower limb muscle weakness0GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0007340HP:0007340Lower limb muscle weakness0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent99
HP:0007340HP:0007340Lower limb muscle weakness0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040282 - Frequent60
HP:0007340HP:0007340Lower limb muscle weakness0HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0007340HP:0007340Lower limb muscle weakness0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0007340HP:0007340Lower limb muscle weakness0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4G11
HP:0007340HP:0007340Lower limb muscle weakness0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0007340HP:0007340Lower limb muscle weakness0HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB47
HP:0007340HP:0007340Lower limb muscle weakness0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0007340HP:0007340Lower limb muscle weakness0HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA38
HP:0007340HP:0007340Lower limb muscle weakness0HSPD1 CL E G H33295261ORPHA:100994Autosomal dominant spastic paraplegia type 13HP:0040282 - Frequent46
HP:0007340HP:0007340Lower limb muscle weakness0HSPD1 CL E G H33295261OMIM:605280Spastic paraplegia 13, autosomal dominant.46
HP:0007340HP:0007340Lower limb muscle weakness0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0007340HP:0007340Lower limb muscle weakness0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 7416
HP:0007340HP:0007340Lower limb muscle weakness0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0007340HP:0007340Lower limb muscle weakness0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040283 - Occasional121
HP:0007340HP:0007340Lower limb muscle weakness0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent10
HP:0007340HP:0007340Lower limb muscle weakness0KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0007340HP:0007340Lower limb muscle weakness0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessiveHP:0040282 - Frequent276
HP:0007340HP:0007340Lower limb muscle weakness0KIF5A CL E G H37986323ORPHA:100991Autosomal dominant spastic paraplegia type 10HP:0040282 - Frequent93
HP:0007340HP:0007340Lower limb muscle weakness0KIF5A CL E G H37986323OMIM:604187Spastic paraplegia 10, autosomal dominant.93
HP:0007340HP:0007340Lower limb muscle weakness0KPNA3 CL E G H38396396ORPHA:171612Autosomal dominant spastic paraplegia type 37HP:0040282 - Frequent
HP:0007340HP:0007340Lower limb muscle weakness0L1CAM CL E G H38976470ORPHA:306617X-linked complicated spastic paraplegia type 1HP:0040282 - Frequent134
HP:0007340HP:0007340Lower limb muscle weakness0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 67
HP:0007340HP:0007340Lower limb muscle weakness0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0007340HP:0007340Lower limb muscle weakness0LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant645
HP:0007340HP:0007340Lower limb muscle weakness0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0007340HP:0007340Lower limb muscle weakness0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndrome140
HP:0007340HP:0007340Lower limb muscle weakness0MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0007340HP:0007340Lower limb muscle weakness0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0007340HP:0007340Lower limb muscle weakness0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 4318
HP:0007340HP:0007340Lower limb muscle weakness0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2Z8
HP:0007340HP:0007340Lower limb muscle weakness0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0007340HP:0007340Lower limb muscle weakness0MPZ CL E G H43597225ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent134
HP:0007340HP:0007340Lower limb muscle weakness0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36
HP:0007340HP:0007340Lower limb muscle weakness0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040281 - Very frequent183
HP:0007340HP:0007340Lower limb muscle weakness0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0007340HP:0007340Lower limb muscle weakness0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0007340HP:0007340Lower limb muscle weakness0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040282 - Frequent
HP:0007340HP:0007340Lower limb muscle weakness0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive
HP:0007340HP:0007340Lower limb muscle weakness0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0007340HP:0007340Lower limb muscle weakness0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040282 - Frequent227
HP:0007340HP:0007340Lower limb muscle weakness0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0007340HP:0007340Lower limb muscle weakness0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0007340HP:0007340Lower limb muscle weakness0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromes
HP:0007340HP:0007340Lower limb muscle weakness0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0007340HP:0007340Lower limb muscle weakness0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4D82
HP:0007340HP:0007340Lower limb muscle weakness0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0007340HP:0007340Lower limb muscle weakness0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040281 - Very frequent118
HP:0007340HP:0007340Lower limb muscle weakness0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0007340HP:0007340Lower limb muscle weakness0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0007340HP:0007340Lower limb muscle weakness0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0007340HP:0007340Lower limb muscle weakness0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0007340HP:0007340Lower limb muscle weakness0NIPA1 CL E G H12360617043OMIM:600363Spastic paraplegia 6, autosomal dominant.117
HP:0007340HP:0007340Lower limb muscle weakness0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0007340HP:0007340Lower limb muscle weakness0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040283 - Occasional7
HP:0007340HP:0007340Lower limb muscle weakness0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0007340HP:0007340Lower limb muscle weakness0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0007340HP:0007340Lower limb muscle weakness0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0007340HP:0007340Lower limb muscle weakness0PI4KA CL E G H52978983OMIM:619621SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG8411
HP:0007340HP:0007340Lower limb muscle weakness0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0007340HP:0007340Lower limb muscle weakness0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0007340HP:0007340Lower limb muscle weakness0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0007340HP:0007340Lower limb muscle weakness0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked.60
HP:0007340HP:0007340Lower limb muscle weakness0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0007340HP:0007340Lower limb muscle weakness0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathy79
HP:0007340HP:0007340Lower limb muscle weakness0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1E79
HP:0007340HP:0007340Lower limb muscle weakness0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0007340HP:0007340Lower limb muscle weakness0PMP22 CL E G H53769118ORPHA:3115Roussy-Lévy syndromeHP:0040282 - Frequent79
HP:0007340HP:0007340Lower limb muscle weakness0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4244
HP:0007340HP:0007340Lower limb muscle weakness0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0007340HP:0007340Lower limb muscle weakness0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0007340HP:0007340Lower limb muscle weakness0PRNP CL E G H56219449ORPHA:356Gerstmann-Straussler-Scheinker syndromeHP:0040281 - Very frequent69
HP:0007340HP:0007340Lower limb muscle weakness0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0007340HP:0007340Lower limb muscle weakness0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0007340HP:0007340Lower limb muscle weakness0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0007340HP:0007340Lower limb muscle weakness0RASA1 CL E G H59219871ORPHA:90307Parkes Weber syndromeHP:0040283 - Occasional88
HP:0007340HP:0007340Lower limb muscle weakness0REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 587
HP:0007340HP:0007340Lower limb muscle weakness0REEP1 CL E G H6505525786OMIM:610250Spastic paraplegia 31, autosomal dominant.87
HP:0007340HP:0007340Lower limb muscle weakness0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0007340HP:0007340Lower limb muscle weakness0RTN2 CL E G H625310468ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040281 - Very frequent25
HP:0007340HP:0007340Lower limb muscle weakness0RTN2 CL E G H625310468OMIM:604805Spastic paraplegia 12, autosomal dominant.25
HP:0007340HP:0007340Lower limb muscle weakness0SARDH CL E G H175710536ORPHA:3129Sarcosinemia4
HP:0007340HP:0007340Lower limb muscle weakness0SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0007340HP:0007340Lower limb muscle weakness0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0007340HP:0007340Lower limb muscle weakness0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0007340HP:0007340Lower limb muscle weakness0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0007340HP:0007340Lower limb muscle weakness0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040282 - Frequent
HP:0007340HP:0007340Lower limb muscle weakness0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0007340HP:0007340Lower limb muscle weakness0SLC12A6 CL E G H999010914OMIM:620068163
HP:0007340HP:0007340Lower limb muscle weakness0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0007340HP:0007340Lower limb muscle weakness0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromes28
HP:0007340HP:0007340Lower limb muscle weakness0SLC33A1 CL E G H919795ORPHA:171863Autosomal dominant spastic paraplegia type 42HP:0040282 - Frequent48
HP:0007340HP:0007340Lower limb muscle weakness0SLC5A6 CL E G H888411041OMIM:619903
HP:0007340HP:0007340Lower limb muscle weakness0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromes9
HP:0007340HP:0007340Lower limb muscle weakness0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0007340HP:0007340Lower limb muscle weakness0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0007340HP:0007340Lower limb muscle weakness0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0007340HP:0007340Lower limb muscle weakness0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0007340HP:0007340Lower limb muscle weakness0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0007340HP:0007340Lower limb muscle weakness0SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0007340HP:0007340Lower limb muscle weakness0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0007340HP:0007340Lower limb muscle weakness0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0007340HP:0007340Lower limb muscle weakness0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0007340HP:0007340Lower limb muscle weakness0SPAST CL E G H668311233ORPHA:100985Autosomal dominant spastic paraplegia type 4HP:0040282 - Frequent208
HP:0007340HP:0007340Lower limb muscle weakness0SPAST CL E G H668311233OMIM:182601Spastic paraplegia 4, autosomal dominant.208
HP:0007340HP:0007340Lower limb muscle weakness0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040281 - Very frequent287
HP:0007340HP:0007340Lower limb muscle weakness0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0007340HP:0007340Lower limb muscle weakness0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040282 - Frequent28
HP:0007340HP:0007340Lower limb muscle weakness0SPG21 CL E G H5132420373OMIM:248900Mast syndrome.28
HP:0007340HP:0007340Lower limb muscle weakness0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0007340HP:0007340Lower limb muscle weakness0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0007340HP:0007340Lower limb muscle weakness0SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0007340HP:0007340Lower limb muscle weakness0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0007340HP:0007340Lower limb muscle weakness0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040282 - Frequent1129
HP:0007340HP:0007340Lower limb muscle weakness0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromes4
HP:0007340HP:0007340Lower limb muscle weakness0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0007340HP:0007340Lower limb muscle weakness0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 152
HP:0007340HP:0007340Lower limb muscle weakness0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0007340HP:0007340Lower limb muscle weakness0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040281 - Very frequent18
HP:0007340HP:0007340Lower limb muscle weakness0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0007340HP:0007340Lower limb muscle weakness0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0007340HP:0007340Lower limb muscle weakness0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0007340HP:0007340Lower limb muscle weakness0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0007340HP:0007340Lower limb muscle weakness0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0007340HP:0007340Lower limb muscle weakness0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0007340HP:0007340Lower limb muscle weakness0TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0007340HP:0007340Lower limb muscle weakness0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0007340HP:0007340Lower limb muscle weakness0UBAP1 CL E G H5127112461ORPHA:100993Autosomal dominant spastic paraplegia type 12HP:0040281 - Very frequent
HP:0007340HP:0007340Lower limb muscle weakness0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromes2
HP:0007340HP:0007340Lower limb muscle weakness0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0007340HP:0007340Lower limb muscle weakness0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2Y63
HP:0007340HP:0007340Lower limb muscle weakness0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0007340HP:0007340Lower limb muscle weakness0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0007340HP:0007340Lower limb muscle weakness0WASHC5 CL E G H989728984ORPHA:100989Autosomal dominant spastic paraplegia type 8HP:0040282 - Frequent83
HP:0007340HP:0007340Lower limb muscle weakness0WASHC5 CL E G H989728984OMIM:603563Spastic paraplegia 8, autosomal dominant.83
HP:0007340HP:0007340Lower limb muscle weakness0ZFYVE26 CL E G H2350320761OMIM:270700Spastic paraplegia 15, autosomal recessive.189
HP:0007340HP:0007340Lower limb muscle weakness0ZFYVE27 CL E G H11881326559OMIM:610244Spastic paraplegia 33, autosomal dominant.52
HP:0007340HP:0009053Distal lower limb muscle weakness1ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040281 - Very frequent135
HP:0007340HP:0009053Distal lower limb muscle weakness1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0007340HP:0009053Distal lower limb muscle weakness1AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0007340HP:0009053Distal lower limb muscle weakness1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040281 - Very frequent304
HP:0007340HP:0009053Distal lower limb muscle weakness1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040281 - Very frequent304
HP:0007340HP:0009053Distal lower limb muscle weakness1ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040281 - Very frequent71
HP:0007340HP:0009053Distal lower limb muscle weakness1ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040282 - Frequent
HP:0007340HP:0009053Distal lower limb muscle weakness1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0007340HP:0009053Distal lower limb muscle weakness1BSCL2 CL E G H2658015832ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent105
HP:0007340HP:0009053Distal lower limb muscle weakness1BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0007340HP:0009053Distal lower limb muscle weakness1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0007340HP:0009053Distal lower limb muscle weakness1CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0007340HP:0009053Distal lower limb muscle weakness1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0007340HP:0009053Distal lower limb muscle weakness1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040281 - Very frequent11
HP:0007340HP:0009053Distal lower limb muscle weakness1COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0007340HP:0009053Distal lower limb muscle weakness1CPT1C CL E G H12612918540ORPHA:444099Autosomal dominant spastic paraplegia type 73HP:0040282 - Frequent1
HP:0007340HP:0009053Distal lower limb muscle weakness1DDHD2 CL E G H2325929106OMIM:615033Spastic paraplegia 54, autosomal recessive29
HP:0007340HP:0009053Distal lower limb muscle weakness1DES CL E G H16742770ORPHA:98909DesminopathyHP:0040281 - Very frequent263
HP:0007340HP:0009053Distal lower limb muscle weakness1DHTKD1 CL E G H5552623537OMIM:615025Charcot-Marie-Tooth disease, axonal, type 2Q12
HP:0007340HP:0009053Distal lower limb muscle weakness1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0007340HP:0009053Distal lower limb muscle weakness1DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0007340HP:0009053Distal lower limb muscle weakness1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0007340HP:0009053Distal lower limb muscle weakness1EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0007340HP:0009053Distal lower limb muscle weakness1EMILIN1 CL E G H1111719880OMIM:6200802
HP:0007340HP:0009053Distal lower limb muscle weakness1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0007340HP:0009053Distal lower limb muscle weakness1FBLN5 CL E G H105163602OMIM:619764CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H63
HP:0007340HP:0009053Distal lower limb muscle weakness1FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0007340HP:0009053Distal lower limb muscle weakness1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040282 - Frequent197
HP:0007340HP:0009053Distal lower limb muscle weakness1GARS1 CL E G H26174162ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent
HP:0007340HP:0009053Distal lower limb muscle weakness1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0007340HP:0009053Distal lower limb muscle weakness1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0007340HP:0009053Distal lower limb muscle weakness1GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0007340HP:0009053Distal lower limb muscle weakness1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0007340HP:0009053Distal lower limb muscle weakness1GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0007340HP:0009053Distal lower limb muscle weakness1GNE CL E G H1002023657OMIM:605820Nonaka myopathy173
HP:0007340HP:0009053Distal lower limb muscle weakness1GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0007340HP:0009053Distal lower limb muscle weakness1HARS1 CL E G H30354816ORPHA:488333Autosomal dominant Charcot-Marie-Tooth disease type 2WHP:0040281 - Very frequent
HP:0007340HP:0009053Distal lower limb muscle weakness1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040281 - Very frequent12
HP:0007340HP:0009053Distal lower limb muscle weakness1HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040281 - Very frequent11
HP:0007340HP:0009053Distal lower limb muscle weakness1HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB.47
HP:0007340HP:0009053Distal lower limb muscle weakness1HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0007340HP:0009053Distal lower limb muscle weakness1HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA.38
HP:0007340HP:0009053Distal lower limb muscle weakness1IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0007340HP:0009053Distal lower limb muscle weakness1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0007340HP:0009053Distal lower limb muscle weakness1KIF1A CL E G H547888OMIM:614213Neuropathy, hereditary sensory, type IIC276
HP:0007340HP:0009053Distal lower limb muscle weakness1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0007340HP:0009053Distal lower limb muscle weakness1LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0007340HP:0009053Distal lower limb muscle weakness1MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040283 - Occasional140
HP:0007340HP:0009053Distal lower limb muscle weakness1MATR3 CL E G H97826912OMIM:606070Amyotrophic lateral sclerosis 2180
HP:0007340HP:0009053Distal lower limb muscle weakness1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040282 - Frequent203
HP:0007340HP:0009053Distal lower limb muscle weakness1MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040281 - Very frequent18
HP:0007340HP:0009053Distal lower limb muscle weakness1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040281 - Very frequent8
HP:0007340HP:0009053Distal lower limb muscle weakness1MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0007340HP:0009053Distal lower limb muscle weakness1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0007340HP:0009053Distal lower limb muscle weakness1MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55
HP:0007340HP:0009053Distal lower limb muscle weakness1MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040283 - Occasional81
HP:0007340HP:0009053Distal lower limb muscle weakness1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0007340HP:0009053Distal lower limb muscle weakness1MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 11269
HP:0007340HP:0009053Distal lower limb muscle weakness1MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0007340HP:0009053Distal lower limb muscle weakness1NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040281 - Very frequent82
HP:0007340HP:0009053Distal lower limb muscle weakness1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0007340HP:0009053Distal lower limb muscle weakness1NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2E118
HP:0007340HP:0009053Distal lower limb muscle weakness1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040282 - Frequent
HP:0007340HP:0009053Distal lower limb muscle weakness1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0007340HP:0009053Distal lower limb muscle weakness1PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0007340HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0007340HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040281 - Very frequent79
HP:0007340HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0007340HP:0009053Distal lower limb muscle weakness1PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4HP:0040283 - Occasional244
HP:0007340HP:0009053Distal lower limb muscle weakness1PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessive103
HP:0007340HP:0009053Distal lower limb muscle weakness1PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0007340HP:0009053Distal lower limb muscle weakness1RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0007340HP:0009053Distal lower limb muscle weakness1REEP1 CL E G H6505525786ORPHA:139536Distal hereditary motor neuropathy type 5HP:0040282 - Frequent87
HP:0007340HP:0009053Distal lower limb muscle weakness1SARDH CL E G H175710536ORPHA:3129Sarcosinemia4
HP:0007340HP:0009053Distal lower limb muscle weakness1SBF1 CL E G H630510542OMIM:615284Charcot-Marie-Tooth disease, type 4B316
HP:0007340HP:0009053Distal lower limb muscle weakness1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0007340HP:0009053Distal lower limb muscle weakness1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0007340HP:0009053Distal lower limb muscle weakness1SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0007340HP:0009053Distal lower limb muscle weakness1SLC12A6 CL E G H999010914OMIM:620068163
HP:0007340HP:0009053Distal lower limb muscle weakness1SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0007340HP:0009053Distal lower limb muscle weakness1SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional28
HP:0007340HP:0009053Distal lower limb muscle weakness1SLC5A6 CL E G H888411041OMIM:619903
HP:0007340HP:0009053Distal lower limb muscle weakness1SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional9
HP:0007340HP:0009053Distal lower limb muscle weakness1SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0007340HP:0009053Distal lower limb muscle weakness1SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0007340HP:0009053Distal lower limb muscle weakness1SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0007340HP:0009053Distal lower limb muscle weakness1SPTLC2 CL E G H951711278OMIM:613640Neuropathy, hereditary sensory and autonomic, type IC149
HP:0007340HP:0009053Distal lower limb muscle weakness1SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional4
HP:0007340HP:0009053Distal lower limb muscle weakness1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0007340HP:0009053Distal lower limb muscle weakness1TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0007340HP:0009053Distal lower limb muscle weakness1TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0007340HP:0009053Distal lower limb muscle weakness1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0007340HP:0009053Distal lower limb muscle weakness1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0007340HP:0009053Distal lower limb muscle weakness1TRPV4 CL E G H5934118083OMIM:600175Spinal muscular atrophy, distal, congenital nonprogressive214
HP:0007340HP:0009053Distal lower limb muscle weakness1TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failure7128
HP:0007340HP:0009053Distal lower limb muscle weakness1VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional2
HP:0007340HP:0009053Distal lower limb muscle weakness1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0007340HP:0009053Distal lower limb muscle weakness1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0007340HP:0009053Distal lower limb muscle weakness1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0007340HP:0008963Tibialis muscle weakness2DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onsetHP:0040282 - Frequent600
HP:0007340HP:0008963Tibialis muscle weakness2DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0007340HP:0011727Peroneal muscle weakness2GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0007340HP:0008963Tibialis muscle weakness2GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0007340HP:0008963Tibialis muscle weakness2GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040281 - Very frequent173
HP:0007340HP:0011727Peroneal muscle weakness2GYG1 CL E G H29924699OMIM:616199Polyglucosan body myopathy 218
HP:0007340HP:0011727Peroneal muscle weakness2LMNA CL E G H40006636OMIM:181350Emery-Dreifuss muscular dystrophy 2, autosomal dominant.645
HP:0007340HP:0008963Tibialis muscle weakness2MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0007340HP:0008963Tibialis muscle weakness2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040281 - Very frequent1269
HP:0007340HP:0008963Tibialis muscle weakness2NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0007340HP:0011727Peroneal muscle weakness2PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0007340HP:0011727Peroneal muscle weakness2SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0007340HP:0011727Peroneal muscle weakness2TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0007340HP:0008963Tibialis muscle weakness2TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040283 - Occasional7128


Genes (173) :AARS1 ABCD1 ADAR ADSS1 AFG3L2 AGRN AKT1 ANO5 AP5Z1 ASAH1 ATL1 ATP5MC3 ATP6 BAP1 BICD2 BSCL2 CACNA1S CAPN1 CAPN3 CAV1 CCND1 CHAT CHCHD10 CHRNA1 COL13A1 COL25A1 COX1 COX3 CPT1C CYP27A1 CYP7B1 DCTN1 DDHD1 DDHD2 DES DGUOK DHTKD1 DNM2 DSTYK DYSF EGR2 EMILIN1 ERGIC1 ERLIN2 EXTL3 FBLN5 FBXO38 FGD4 FHL1 FLI1 FLNC GABRA3 GALC GARS1 GBA2 GDAP1 GIPC1 GJB1 GMPPB GNB1 GNE GYG1 HADHA HADHB HARS1 HINT1 HK1 HSPB1 HSPB3 HSPB8 HSPD1 HYCC1 IBA57 JAG2 KCNJ10 KCNJ18 KIF1A KIF5A KPNA3 L1CAM LIPE LMNA LPIN1 MAPT MATR3 MFN2 MME MORC2 MPZ MRPS2 MTHFR MTMR14 MTRFR MTTP MYH14 MYH7 MYO9A MYPN NDRG1 NEFH NEFL NF1 NF2 NIPA1 NOTCH2NLC NUP62 PDGFB PDK3 PHKA1 PI4KA PIEZO2 PIK3CA PLEC PLP1 PMP2 PMP22 PNKP PNPLA6 PRNP PRORP PRX RAB7A RASA1 REEP1 RNF170 RTN2 SARDH SBF1 SBF2 SCO2 SCYL1 SCYL2 SECISBP2 SLC12A6 SLC18A3 SLC25A1 SLC33A1 SLC5A6 SLC5A7 SMARCB1 SMARCE1 SMN1 SMN2 SMO SMPX SNAP25 SORD SPART SPAST SPG11 SPG21 SPG7 SPTLC2 SUFU SYNE1 SYT2 TCAP TDP1 TERT TFG TPM2 TPM3 TRAF7 TRPV4 TTN UBAP1 VAMP1 VCP VHL VWA1 WASHC5 ZFYVE26 ZFYVE27

Diseases (175) :OMIM:613287 OMIM:300100 ORPHA:139399 ORPHA:225154 ORPHA:482601 ORPHA:313772 ORPHA:98914 ORPHA:2495 ORPHA:206549 ORPHA:399096 ORPHA:306511 OMIM:613647 ORPHA:2590 ORPHA:100984 OMIM:182600 OMIM:619681 ORPHA:320360 OMIM:615290 ORPHA:139536 OMIM:619112 OMIM:270685 ORPHA:79102 ORPHA:488594 OMIM:616907 ORPHA:267 OMIM:253600 OMIM:606721 ORPHA:892 ORPHA:457050 ORPHA:276435 OMIM:601462 ORPHA:1143 ORPHA:99845 ORPHA:444099 OMIM:213700 ORPHA:100986 OMIM:270800 OMIM:607641 ORPHA:101008 OMIM:609340 OMIM:615033 ORPHA:98909 ORPHA:329314 OMIM:615025 OMIM:160150 OMIM:270750 ORPHA:178400 ORPHA:268 OMIM:254130 ORPHA:45448 OMIM:145900 OMIM:620080 OMIM:611225 ORPHA:508533 OMIM:619764 OMIM:615575 OMIM:609311 OMIM:300695 ORPHA:370348 ORPHA:63273 ORPHA:206448 OMIM:619042 OMIM:614409 ORPHA:101097 ORPHA:98897 OMIM:302800 ORPHA:363623 OMIM:616973 ORPHA:602 OMIM:605820 OMIM:616199 ORPHA:746 ORPHA:488333 ORPHA:324442 ORPHA:99953 ORPHA:99940 OMIM:608634 OMIM:613376 OMIM:158590 ORPHA:100994 OMIM:605280 OMIM:610532 ORPHA:468661 OMIM:619566 ORPHA:199343 OMIM:614213 OMIM:610357 ORPHA:100991 OMIM:604187 ORPHA:171612 ORPHA:306617 OMIM:615980 ORPHA:98856 OMIM:181350 ORPHA:240094 OMIM:606070 ORPHA:99947 ORPHA:497764 ORPHA:466768 ORPHA:3115 OMIM:617950 ORPHA:395 ORPHA:320375 ORPHA:254930 OMIM:615035 ORPHA:14 ORPHA:397744 ORPHA:437572 OMIM:160500 ORPHA:171881 ORPHA:99950 OMIM:616924 ORPHA:99939 ORPHA:101085 OMIM:607684 OMIM:162210 OMIM:600363 ORPHA:352675 OMIM:300559 OMIM:619621 OMIM:617146 ORPHA:254361 OMIM:312920 OMIM:618279 ORPHA:98916 ORPHA:90658 ORPHA:459033 OMIM:612020 OMIM:137440 ORPHA:356 OMIM:619737 OMIM:600882 ORPHA:90307 OMIM:610250 OMIM:619686 ORPHA:100993 OMIM:604805 ORPHA:3129 OMIM:615284 ORPHA:99956 ORPHA:521411 ORPHA:466794 ORPHA:171706 OMIM:620068 ORPHA:171863 OMIM:619903 OMIM:253400 OMIM:301075 OMIM:618912 OMIM:275900 ORPHA:100985 OMIM:182601 ORPHA:2822 OMIM:604360 ORPHA:101001 OMIM:248900 OMIM:607259 ORPHA:99013 OMIM:613640 ORPHA:88644 OMIM:601954 ORPHA:94124 ORPHA:90117 OMIM:609284 OMIM:606071 OMIM:181405 OMIM:600175 ORPHA:178464 OMIM:613954 ORPHA:435387 OMIM:619216 ORPHA:100989 OMIM:603563 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.