Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Muscle weakness (HP:0001324)help
..Starting node
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Distal muscle weakness (HP:0002460)help
Term ID: 2460
Name: Distal muscle weakness
Synonym: Distal limb muscle weakness; Distal limb muscle weakness due to peripheral neuropathy; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles
Definition: Reduced strength of the musculature of the distal extremities.
Comments:
Reference: HP:0002460
Genes and Diseases:
 
       Child Nodes:
........expandParesis of extensor muscles of the big toe (HP:0002601) help
........expandFirst dorsal interossei muscle weakness (HP:0003392) help
........expandLate-onset distal muscle weakness (HP:0003810) help
........expandDistal upper limb muscle weakness (HP:0008959) help
........expandDistal lower limb muscle weakness (HP:0009053) help
................... HP:0008963 Tibialis muscle weakness
................... HP:0011727 Peroneal muscle weakness
........expandProgressive distal muscle weakness (HP:0009063) 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
..expandFacial palsy (HP:0010628) help
..expandFatigable weakness (HP:0003473) help
..expandGeneralized muscle weakness (HP:0003324) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandLimb muscle weakness (HP:0003690) 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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002460HP:0002460Distal muscle weakness0AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0002460HP:0002460Distal muscle weakness0ABCA1 CL E G H1931150ORPHA1128029600046
HP:0002460HP:0002460Distal muscle weakness0ACTA1 CL E G H5897240ORPHA1506129102610
HP:0002460HP:0002460Distal muscle weakness0AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002460HP:0002460Distal muscle weakness0AIFM1 CL E G H9131101078ORPHA15758768300169
HP:0002460HP:0002460Distal muscle weakness0ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0002460HP:0002460Distal muscle weakness0ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM1116227337608662
HP:0002460HP:0002460Distal muscle weakness0ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11751869300011
HP:0002460HP:0002460Distal muscle weakness0ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002460HP:0002460Distal muscle weakness0BICD2 CL E G H23299363454ORPHA174017208609797
HP:0002460HP:0002460Distal muscle weakness0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0002460HP:0002460Distal muscle weakness0BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0002460HP:0002460Distal muscle weakness0C19orf12 CL E G H83636320370ORPHA130725443614297
HP:0002460HP:0002460Distal muscle weakness0C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0002460HP:0002460Distal muscle weakness0C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002460HP:0002460Distal muscle weakness0CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002460HP:0002460Distal muscle weakness0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM117182211120220
HP:0002460HP:0002460Distal muscle weakness0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119282212120240
HP:0002460HP:0002460Distal muscle weakness0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119282212120240
HP:0002460HP:0002460Distal muscle weakness0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM130012213120250
HP:0002460HP:0002460Distal muscle weakness0COLQ CL E G H829298915ORPHA15422226603033
HP:0002460HP:0002460Distal muscle weakness0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0002460HP:0002460Distal muscle weakness0DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM14924891615820
HP:0002460HP:0002460Distal muscle weakness0DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM110842711601143
HP:0002460HP:0002460Distal muscle weakness0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM19762770125660
HP:0002460HP:0002460Distal muscle weakness0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0002460HP:0002460Distal muscle weakness0DHH CL E G H50846168563ORPHA11022865605423
HP:0002460HP:0002460Distal muscle weakness0DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM110882974602378
HP:0002460HP:0002460Distal muscle weakness0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM137872961600112
HP:0002460HP:0002460Distal muscle weakness0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM133553097603009
HP:0002460HP:0002460Distal muscle weakness0DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM133553097603009
HP:0002460HP:0002460Distal muscle weakness0EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0002460HP:0002460Distal muscle weakness0EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0002460HP:0002460Distal muscle weakness0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0002460HP:0002460Distal muscle weakness0FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM192616873609390
HP:0002460HP:0002460Distal muscle weakness0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM152924682609144
HP:0002460HP:0002460Distal muscle weakness0FUS CL E G H2521275872ORPHA14744010137070
HP:0002460HP:0002460Distal muscle weakness0GAN CL E G H8139643ORPHA17774137605379
HP:0002460HP:0002460Distal muscle weakness0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002460HP:0002460Distal muscle weakness0GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0002460HP:0002460Distal muscle weakness0GDAP1 CL E G H5433299944ORPHA153715968606598
HP:0002460HP:0002460Distal muscle weakness0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM153715968606598
HP:0002460HP:0002460Distal muscle weakness0GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM153715968606598
HP:0002460HP:0002460Distal muscle weakness0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM153715968606598
HP:0002460HP:0002460Distal muscle weakness0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002460HP:0002460Distal muscle weakness0GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM194723657603824
HP:0002460HP:0002460Distal muscle weakness0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0002460HP:0002460Distal muscle weakness0HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0002460HP:0002460Distal muscle weakness0HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002460HP:0002460Distal muscle weakness0HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002460HP:0002460Distal muscle weakness0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13665246602195
HP:0002460HP:0002460Distal muscle weakness0HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM122330171608014
HP:0002460HP:0002460Distal muscle weakness0IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM111385542600502
HP:0002460HP:0002460Distal muscle weakness0INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1132523791610982
HP:0002460HP:0002460Distal muscle weakness0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM15714201605266
HP:0002460HP:0002460Distal muscle weakness0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0002460HP:0002460Distal muscle weakness0LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002460HP:0002460Distal muscle weakness0LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM129016841603795
HP:0002460HP:0002460Distal muscle weakness0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM118146636150330
HP:0002460HP:0002460Distal muscle weakness0LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM179225135610933
HP:0002460HP:0002460Distal muscle weakness0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM136817797609479
HP:0002460HP:0002460Distal muscle weakness0MATR3 CL E G H9782600ORPHA14506912164015
HP:0002460HP:0002460Distal muscle weakness0MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002460HP:0002460Distal muscle weakness0MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM166628845610197
HP:0002460HP:0002460Distal muscle weakness0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0002460HP:0002460Distal muscle weakness0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1122216877608507
HP:0002460HP:0002460Distal muscle weakness0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM16077225159440
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM16077225159440
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0002460HP:0002460Distal muscle weakness0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM16077225159440
HP:0002460HP:0002460Distal muscle weakness0MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM15407450603557
HP:0002460HP:0002460Distal muscle weakness0MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0002460HP:0002460Distal muscle weakness0MYH7 CL E G H462559135ORPHA141067577160760
HP:0002460HP:0002460Distal muscle weakness0MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM141067577160760
HP:0002460HP:0002460Distal muscle weakness0MYOT CL E G H9499266ORPHA137212399604103
HP:0002460HP:0002460Distal muscle weakness0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002460HP:0002460Distal muscle weakness0NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0002460HP:0002460Distal muscle weakness0NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM17347679605262
HP:0002460HP:0002460Distal muscle weakness0NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM16147739162280
HP:0002460HP:0002460Distal muscle weakness0NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM16147739162280
HP:0002460HP:0002460Distal muscle weakness0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM16147739162280
HP:0002460HP:0002460Distal muscle weakness0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002460HP:0002460Distal muscle weakness0PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM1108029105611101
HP:0002460HP:0002460Distal muscle weakness0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM1108029105611101
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H5376101081ORPHA14929118601097
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0002460HP:0002460Distal muscle weakness0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14929118601097
HP:0002460HP:0002460Distal muscle weakness0PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM1121616268603197
HP:0002460HP:0002460Distal muscle weakness0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002460HP:0002460Distal muscle weakness0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002460HP:0002460Distal muscle weakness0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002460HP:0002460Distal muscle weakness0PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0002460HP:0002460Distal muscle weakness0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0002460HP:0002460Distal muscle weakness0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0002460HP:0002460Distal muscle weakness0RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11939788602298
HP:0002460HP:0002460Distal muscle weakness0REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM143425786609139
HP:0002460HP:0002460Distal muscle weakness0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002460HP:0002460Distal muscle weakness0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0002460HP:0002460Distal muscle weakness0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0002460HP:0002460Distal muscle weakness0SETX CL E G H23064357043ORPHA11556445608465
HP:0002460HP:0002460Distal muscle weakness0SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0002460HP:0002460Distal muscle weakness0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1167429427608206
HP:0002460HP:0002460Distal muscle weakness0SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12478157601978
HP:0002460HP:0002460Distal muscle weakness0SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0002460HP:0002460Distal muscle weakness0SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM137811190602229
HP:0002460HP:0002460Distal muscle weakness0SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0002460HP:0002460Distal muscle weakness0SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0002460HP:0002460Distal muscle weakness0SPTLC2 CL E G H9517613640Hereditary sensory and autonomic neuropathy type IC613640C3150896OMIM158211278605713
HP:0002460HP:0002460Distal muscle weakness0SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002460HP:0002460Distal muscle weakness0SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM123211510600104
HP:0002460HP:0002460Distal muscle weakness0TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002460HP:0002460Distal muscle weakness0TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002460HP:0002460Distal muscle weakness0TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM125011802603518
HP:0002460HP:0002460Distal muscle weakness0TK2 CL E G H7084254875ORPHA144211831188250
HP:0002460HP:0002460Distal muscle weakness0TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0002460HP:0002460Distal muscle weakness0TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM1101818083605427
HP:0002460HP:0002460Distal muscle weakness0TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM12750312403188840
HP:0002460HP:0002460Distal muscle weakness0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002460HP:0002460Distal muscle weakness0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002460HP:0002460Distal muscle weakness0VCP CL E G H7415329478ORPHA160712666601023
HP:0002460HP:0002460Distal muscle weakness0VCP CL E G H7415275872ORPHA160712666601023
HP:0002460HP:0002460Distal muscle weakness0VCP CL E G H741552430ORPHA160712666601023
HP:0002460HP:0002460Distal muscle weakness0VCP CL E G H7415435387ORPHA160712666601023
HP:0002460HP:0002460Distal muscle weakness0VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0002460HP:0002460Distal muscle weakness0YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0002460HP:0008959Distal upper limb muscle weakness1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0002460HP:0009063Progressive distal muscle weakness1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0002460HP:0003810Late-onset distal muscle weakness1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0002460HP:0009053Distal lower limb muscle weakness1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0002460HP:0003392First dorsal interossei muscle weakness1AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0002460HP:0009053Distal lower limb muscle weakness1ABCA1 CL E G H1931150ORPHA1128029600046
HP:0002460HP:0003392First dorsal interossei muscle weakness1ABCA1 CL E G H1931150ORPHA1128029600046
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1ABCA1 CL E G H1931150ORPHA1128029600046
HP:0002460HP:0008959Distal upper limb muscle weakness1ABCA1 CL E G H1931150ORPHA1128029600046
HP:0002460HP:0009063Progressive distal muscle weakness1ABCA1 CL E G H1931150ORPHA1128029600046
HP:0002460HP:0003810Late-onset distal muscle weakness1ABCA1 CL E G H1931150ORPHA1128029600046
HP:0002460HP:0008959Distal upper limb muscle weakness1ACTA1 CL E G H5897240ORPHA1506129102610
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1ACTA1 CL E G H5897240ORPHA1506129102610
HP:0002460HP:0009063Progressive distal muscle weakness1ACTA1 CL E G H5897240ORPHA1506129102610
HP:0002460HP:0003810Late-onset distal muscle weakness1ACTA1 CL E G H5897240ORPHA1506129102610
HP:0002460HP:0009053Distal lower limb muscle weakness1ACTA1 CL E G H5897240ORPHA1506129102610
HP:0002460HP:0003392First dorsal interossei muscle weakness1ACTA1 CL E G H5897240ORPHA1506129102610
HP:0002460HP:0003810Late-onset distal muscle weakness1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002460HP:0009053Distal lower limb muscle weakness1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002460HP:0003392First dorsal interossei muscle weakness1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002460HP:0008959Distal upper limb muscle weakness1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002460HP:0009063Progressive distal muscle weakness1AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002460HP:0008959Distal upper limb muscle weakness1AIFM1 CL E G H9131101078ORPHA15758768300169
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1AIFM1 CL E G H9131101078ORPHA15758768300169
HP:0002460HP:0009063Progressive distal muscle weakness1AIFM1 CL E G H9131101078ORPHA15758768300169
HP:0002460HP:0003810Late-onset distal muscle weakness1AIFM1 CL E G H9131101078ORPHA15758768300169
HP:0002460HP:0003392First dorsal interossei muscle weakness1AIFM1 CL E G H9131101078ORPHA15758768300169
HP:0002460HP:0009053Distal lower limb muscle weakness1AIFM1 CL E G H9131101078ORPHA15758768300169
HP:0002460HP:0009053Distal lower limb muscle weakness1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0002460HP:0003392First dorsal interossei muscle weakness1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0002460HP:0008959Distal upper limb muscle weakness1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0002460HP:0009063Progressive distal muscle weakness1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0002460HP:0003810Late-onset distal muscle weakness1ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0002460HP:0009063Progressive distal muscle weakness1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM1116227337608662
HP:0002460HP:0003810Late-onset distal muscle weakness1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM1116227337608662
HP:0002460HP:0003392First dorsal interossei muscle weakness1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM1116227337608662
HP:0002460HP:0009053Distal lower limb muscle weakness1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM1116227337608662
HP:0002460HP:0008959Distal upper limb muscle weakness1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM1116227337608662
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM1116227337608662
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11751869300011
HP:0002460HP:0008959Distal upper limb muscle weakness1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11751869300011
HP:0002460HP:0009063Progressive distal muscle weakness1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11751869300011
HP:0002460HP:0003810Late-onset distal muscle weakness1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11751869300011
HP:0002460HP:0009053Distal lower limb muscle weakness1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11751869300011
HP:0002460HP:0003392First dorsal interossei muscle weakness1ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11751869300011
HP:0002460HP:0009063Progressive distal muscle weakness1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002460HP:0003810Late-onset distal muscle weakness1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002460HP:0009053Distal lower limb muscle weakness1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002460HP:0003392First dorsal interossei muscle weakness1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002460HP:0008959Distal upper limb muscle weakness1ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002460HP:0009053Distal lower limb muscle weakness1BICD2 CL E G H23299363454ORPHA174017208609797
HP:0002460HP:0003392First dorsal interossei muscle weakness1BICD2 CL E G H23299363454ORPHA174017208609797
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1BICD2 CL E G H23299363454ORPHA174017208609797
HP:0002460HP:0008959Distal upper limb muscle weakness1BICD2 CL E G H23299363454ORPHA174017208609797
HP:0002460HP:0009063Progressive distal muscle weakness1BICD2 CL E G H23299363454ORPHA174017208609797
HP:0002460HP:0003810Late-onset distal muscle weakness1BICD2 CL E G H23299363454ORPHA174017208609797
HP:0002460HP:0009063Progressive distal muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0002460HP:0003810Late-onset distal muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0002460HP:0003392First dorsal interossei muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0002460HP:0009053Distal lower limb muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0002460HP:0008959Distal upper limb muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0002460HP:0009063Progressive distal muscle weakness1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0002460HP:0003810Late-onset distal muscle weakness1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0002460HP:0009053Distal lower limb muscle weakness1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0002460HP:0003392First dorsal interossei muscle weakness1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0002460HP:0008959Distal upper limb muscle weakness1BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0002460HP:0009053Distal lower limb muscle weakness1C19orf12 CL E G H83636320370ORPHA130725443614297
HP:0002460HP:0003392First dorsal interossei muscle weakness1C19orf12 CL E G H83636320370ORPHA130725443614297
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1C19orf12 CL E G H83636320370ORPHA130725443614297
HP:0002460HP:0008959Distal upper limb muscle weakness1C19orf12 CL E G H83636320370ORPHA130725443614297
HP:0002460HP:0009063Progressive distal muscle weakness1C19orf12 CL E G H83636320370ORPHA130725443614297
HP:0002460HP:0003810Late-onset distal muscle weakness1C19orf12 CL E G H83636320370ORPHA130725443614297
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0002460HP:0008959Distal upper limb muscle weakness1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0002460HP:0009063Progressive distal muscle weakness1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0002460HP:0003810Late-onset distal muscle weakness1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0002460HP:0009053Distal lower limb muscle weakness1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0002460HP:0003392First dorsal interossei muscle weakness1C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0002460HP:0003810Late-onset distal muscle weakness1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002460HP:0003392First dorsal interossei muscle weakness1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002460HP:0009053Distal lower limb muscle weakness1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002460HP:0008959Distal upper limb muscle weakness1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002460HP:0009063Progressive distal muscle weakness1C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002460HP:0009053Distal lower limb muscle weakness1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002460HP:0003392First dorsal interossei muscle weakness1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002460HP:0008959Distal upper limb muscle weakness1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002460HP:0009063Progressive distal muscle weakness1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002460HP:0003810Late-onset distal muscle weakness1CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002460HP:0003810Late-onset distal muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM117182211120220
HP:0002460HP:0009053Distal lower limb muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM117182211120220
HP:0002460HP:0003392First dorsal interossei muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM117182211120220
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM117182211120220
HP:0002460HP:0008959Distal upper limb muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM117182211120220
HP:0002460HP:0009063Progressive distal muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM117182211120220
HP:0002460HP:0003392First dorsal interossei muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119282212120240
HP:0002460HP:0009053Distal lower limb muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119282212120240
HP:0002460HP:0008959Distal upper limb muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119282212120240
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119282212120240
HP:0002460HP:0009063Progressive distal muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119282212120240
HP:0002460HP:0003810Late-onset distal muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119282212120240
HP:0002460HP:0003810Late-onset distal muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119282212120240
HP:0002460HP:0009053Distal lower limb muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119282212120240
HP:0002460HP:0003392First dorsal interossei muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119282212120240
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119282212120240
HP:0002460HP:0008959Distal upper limb muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119282212120240
HP:0002460HP:0009063Progressive distal muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119282212120240
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM130012213120250
HP:0002460HP:0008959Distal upper limb muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM130012213120250
HP:0002460HP:0009063Progressive distal muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM130012213120250
HP:0002460HP:0003810Late-onset distal muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM130012213120250
HP:0002460HP:0009053Distal lower limb muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM130012213120250
HP:0002460HP:0003392First dorsal interossei muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM130012213120250
HP:0002460HP:0009063Progressive distal muscle weakness1COLQ CL E G H829298915ORPHA15422226603033
HP:0002460HP:0003810Late-onset distal muscle weakness1COLQ CL E G H829298915ORPHA15422226603033
HP:0002460HP:0009053Distal lower limb muscle weakness1COLQ CL E G H829298915ORPHA15422226603033
HP:0002460HP:0003392First dorsal interossei muscle weakness1COLQ CL E G H829298915ORPHA15422226603033
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1COLQ CL E G H829298915ORPHA15422226603033
HP:0002460HP:0008959Distal upper limb muscle weakness1COLQ CL E G H829298915ORPHA15422226603033
HP:0002460HP:0003810Late-onset distal muscle weakness1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0002460HP:0009053Distal lower limb muscle weakness1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0002460HP:0003392First dorsal interossei muscle weakness1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0002460HP:0008959Distal upper limb muscle weakness1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0002460HP:0009063Progressive distal muscle weakness1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM14924891615820
HP:0002460HP:0008959Distal upper limb muscle weakness1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM14924891615820
HP:0002460HP:0009063Progressive distal muscle weakness1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM14924891615820
HP:0002460HP:0003810Late-onset distal muscle weakness1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM14924891615820
HP:0002460HP:0009053Distal lower limb muscle weakness1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM14924891615820
HP:0002460HP:0003392First dorsal interossei muscle weakness1DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM14924891615820
HP:0002460HP:0008959Distal upper limb muscle weakness1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM110842711601143
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM110842711601143
HP:0002460HP:0009063Progressive distal muscle weakness1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM110842711601143
HP:0002460HP:0003810Late-onset distal muscle weakness1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM110842711601143
HP:0002460HP:0003392First dorsal interossei muscle weakness1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM110842711601143
HP:0002460HP:0009053Distal lower limb muscle weakness1DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM110842711601143
HP:0002460HP:0009053Distal lower limb muscle weakness1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM19762770125660
HP:0002460HP:0003392First dorsal interossei muscle weakness1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM19762770125660
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM19762770125660
HP:0002460HP:0008959Distal upper limb muscle weakness1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM19762770125660
HP:0002460HP:0009063Progressive distal muscle weakness1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM19762770125660
HP:0002460HP:0003810Late-onset distal muscle weakness1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM19762770125660
HP:0002460HP:0009063Progressive distal muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0002460HP:0003810Late-onset distal muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0002460HP:0009053Distal lower limb muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0002460HP:0003392First dorsal interossei muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0002460HP:0008959Distal upper limb muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0002460HP:0003810Late-onset distal muscle weakness1DHH CL E G H50846168563ORPHA11022865605423
HP:0002460HP:0003392First dorsal interossei muscle weakness1DHH CL E G H50846168563ORPHA11022865605423
HP:0002460HP:0009053Distal lower limb muscle weakness1DHH CL E G H50846168563ORPHA11022865605423
HP:0002460HP:0008959Distal upper limb muscle weakness1DHH CL E G H50846168563ORPHA11022865605423
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1DHH CL E G H50846168563ORPHA11022865605423
HP:0002460HP:0009063Progressive distal muscle weakness1DHH CL E G H50846168563ORPHA11022865605423
HP:0002460HP:0008959Distal upper limb muscle weakness1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM110882974602378
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM110882974602378
HP:0002460HP:0009063Progressive distal muscle weakness1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM110882974602378
HP:0002460HP:0003810Late-onset distal muscle weakness1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM110882974602378
HP:0002460HP:0003392First dorsal interossei muscle weakness1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM110882974602378
HP:0002460HP:0009053Distal lower limb muscle weakness1DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM110882974602378
HP:0002460HP:0003392First dorsal interossei muscle weakness1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM137872961600112
HP:0002460HP:0009053Distal lower limb muscle weakness1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM137872961600112
HP:0002460HP:0008959Distal upper limb muscle weakness1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM137872961600112
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM137872961600112
HP:0002460HP:0009063Progressive distal muscle weakness1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM137872961600112
HP:0002460HP:0003810Late-onset distal muscle weakness1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM137872961600112
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM133553097603009
HP:0002460HP:0008959Distal upper limb muscle weakness1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM133553097603009
HP:0002460HP:0009063Progressive distal muscle weakness1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM133553097603009
HP:0002460HP:0003810Late-onset distal muscle weakness1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM133553097603009
HP:0002460HP:0009053Distal lower limb muscle weakness1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM133553097603009
HP:0002460HP:0003392First dorsal interossei muscle weakness1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM133553097603009
HP:0002460HP:0003810Late-onset distal muscle weakness1DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM133553097603009
HP:0002460HP:0003392First dorsal interossei muscle weakness1DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM133553097603009
HP:0002460HP:0009053Distal lower limb muscle weakness1DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM133553097603009
HP:0002460HP:0008959Distal upper limb muscle weakness1DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM133553097603009
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM133553097603009
HP:0002460HP:0009063Progressive distal muscle weakness1DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM133553097603009
HP:0002460HP:0003810Late-onset distal muscle weakness1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0002460HP:0003392First dorsal interossei muscle weakness1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0002460HP:0009053Distal lower limb muscle weakness1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0002460HP:0008959Distal upper limb muscle weakness1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0002460HP:0009063Progressive distal muscle weakness1EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0002460HP:0009063Progressive distal muscle weakness1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0002460HP:0003810Late-onset distal muscle weakness1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0002460HP:0009053Distal lower limb muscle weakness1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0002460HP:0003392First dorsal interossei muscle weakness1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0002460HP:0008959Distal upper limb muscle weakness1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0002460HP:0009063Progressive distal muscle weakness1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0002460HP:0003810Late-onset distal muscle weakness1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0002460HP:0009053Distal lower limb muscle weakness1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0002460HP:0003392First dorsal interossei muscle weakness1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0002460HP:0008959Distal upper limb muscle weakness1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0002460HP:0003810Late-onset distal muscle weakness1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM192616873609390
HP:0002460HP:0009053Distal lower limb muscle weakness1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM192616873609390
HP:0002460HP:0003392First dorsal interossei muscle weakness1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM192616873609390
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM192616873609390
HP:0002460HP:0008959Distal upper limb muscle weakness1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM192616873609390
HP:0002460HP:0009063Progressive distal muscle weakness1FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM192616873609390
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM152924682609144
HP:0002460HP:0008959Distal upper limb muscle weakness1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM152924682609144
HP:0002460HP:0009063Progressive distal muscle weakness1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM152924682609144
HP:0002460HP:0003810Late-onset distal muscle weakness1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM152924682609144
HP:0002460HP:0009053Distal lower limb muscle weakness1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM152924682609144
HP:0002460HP:0003392First dorsal interossei muscle weakness1FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM152924682609144
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1FUS CL E G H2521275872ORPHA14744010137070
HP:0002460HP:0008959Distal upper limb muscle weakness1FUS CL E G H2521275872ORPHA14744010137070
HP:0002460HP:0009063Progressive distal muscle weakness1FUS CL E G H2521275872ORPHA14744010137070
HP:0002460HP:0003810Late-onset distal muscle weakness1FUS CL E G H2521275872ORPHA14744010137070
HP:0002460HP:0003392First dorsal interossei muscle weakness1FUS CL E G H2521275872ORPHA14744010137070
HP:0002460HP:0009053Distal lower limb muscle weakness1FUS CL E G H2521275872ORPHA14744010137070
HP:0002460HP:0003810Late-onset distal muscle weakness1GAN CL E G H8139643ORPHA17774137605379
HP:0002460HP:0009053Distal lower limb muscle weakness1GAN CL E G H8139643ORPHA17774137605379
HP:0002460HP:0003392First dorsal interossei muscle weakness1GAN CL E G H8139643ORPHA17774137605379
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GAN CL E G H8139643ORPHA17774137605379
HP:0002460HP:0008959Distal upper limb muscle weakness1GAN CL E G H8139643ORPHA17774137605379
HP:0002460HP:0009063Progressive distal muscle weakness1GAN CL E G H8139643ORPHA17774137605379
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002460HP:0008959Distal upper limb muscle weakness1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002460HP:0009063Progressive distal muscle weakness1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002460HP:0003810Late-onset distal muscle weakness1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002460HP:0009053Distal lower limb muscle weakness1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002460HP:0003392First dorsal interossei muscle weakness1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002460HP:0003810Late-onset distal muscle weakness1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0002460HP:0009053Distal lower limb muscle weakness1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0002460HP:0003392First dorsal interossei muscle weakness1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0002460HP:0008959Distal upper limb muscle weakness1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0002460HP:0009063Progressive distal muscle weakness1GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0002460HP:0009053Distal lower limb muscle weakness1GDAP1 CL E G H5433299944ORPHA153715968606598
HP:0002460HP:0003392First dorsal interossei muscle weakness1GDAP1 CL E G H5433299944ORPHA153715968606598
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GDAP1 CL E G H5433299944ORPHA153715968606598
HP:0002460HP:0008959Distal upper limb muscle weakness1GDAP1 CL E G H5433299944ORPHA153715968606598
HP:0002460HP:0009063Progressive distal muscle weakness1GDAP1 CL E G H5433299944ORPHA153715968606598
HP:0002460HP:0003810Late-onset distal muscle weakness1GDAP1 CL E G H5433299944ORPHA153715968606598
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM153715968606598
HP:0002460HP:0008959Distal upper limb muscle weakness1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM153715968606598
HP:0002460HP:0009063Progressive distal muscle weakness1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM153715968606598
HP:0002460HP:0003810Late-onset distal muscle weakness1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM153715968606598
HP:0002460HP:0009053Distal lower limb muscle weakness1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM153715968606598
HP:0002460HP:0003392First dorsal interossei muscle weakness1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM153715968606598
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM153715968606598
HP:0002460HP:0008959Distal upper limb muscle weakness1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM153715968606598
HP:0002460HP:0009063Progressive distal muscle weakness1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM153715968606598
HP:0002460HP:0003810Late-onset distal muscle weakness1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM153715968606598
HP:0002460HP:0003392First dorsal interossei muscle weakness1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM153715968606598
HP:0002460HP:0009053Distal lower limb muscle weakness1GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM153715968606598
HP:0002460HP:0003392First dorsal interossei muscle weakness1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM153715968606598
HP:0002460HP:0009053Distal lower limb muscle weakness1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM153715968606598
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM153715968606598
HP:0002460HP:0008959Distal upper limb muscle weakness1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM153715968606598
HP:0002460HP:0009063Progressive distal muscle weakness1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM153715968606598
HP:0002460HP:0003810Late-onset distal muscle weakness1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM153715968606598
HP:0002460HP:0003810Late-onset distal muscle weakness1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002460HP:0009053Distal lower limb muscle weakness1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002460HP:0003392First dorsal interossei muscle weakness1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002460HP:0008959Distal upper limb muscle weakness1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002460HP:0009063Progressive distal muscle weakness1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002460HP:0008959Distal upper limb muscle weakness1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM194723657603824
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM194723657603824
HP:0002460HP:0009063Progressive distal muscle weakness1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM194723657603824
HP:0002460HP:0003810Late-onset distal muscle weakness1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM194723657603824
HP:0002460HP:0009053Distal lower limb muscle weakness1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM194723657603824
HP:0002460HP:0003392First dorsal interossei muscle weakness1GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM194723657603824
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0002460HP:0008959Distal upper limb muscle weakness1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0002460HP:0009063Progressive distal muscle weakness1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0002460HP:0003810Late-onset distal muscle weakness1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0002460HP:0009053Distal lower limb muscle weakness1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0002460HP:0003392First dorsal interossei muscle weakness1GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0002460HP:0003810Late-onset distal muscle weakness1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0002460HP:0003392First dorsal interossei muscle weakness1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0002460HP:0009053Distal lower limb muscle weakness1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0002460HP:0008959Distal upper limb muscle weakness1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0002460HP:0009063Progressive distal muscle weakness1HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002460HP:0008959Distal upper limb muscle weakness1HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002460HP:0009063Progressive distal muscle weakness1HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002460HP:0003810Late-onset distal muscle weakness1HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002460HP:0009053Distal lower limb muscle weakness1HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002460HP:0003392First dorsal interossei muscle weakness1HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002460HP:0009063Progressive distal muscle weakness1HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002460HP:0003810Late-onset distal muscle weakness1HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002460HP:0009053Distal lower limb muscle weakness1HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002460HP:0003392First dorsal interossei muscle weakness1HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002460HP:0008959Distal upper limb muscle weakness1HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002460HP:0009063Progressive distal muscle weakness1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13665246602195
HP:0002460HP:0003810Late-onset distal muscle weakness1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13665246602195
HP:0002460HP:0009053Distal lower limb muscle weakness1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13665246602195
HP:0002460HP:0003392First dorsal interossei muscle weakness1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13665246602195
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13665246602195
HP:0002460HP:0008959Distal upper limb muscle weakness1HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13665246602195
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM122330171608014
HP:0002460HP:0008959Distal upper limb muscle weakness1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM122330171608014
HP:0002460HP:0009063Progressive distal muscle weakness1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM122330171608014
HP:0002460HP:0003810Late-onset distal muscle weakness1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM122330171608014
HP:0002460HP:0009053Distal lower limb muscle weakness1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM122330171608014
HP:0002460HP:0003392First dorsal interossei muscle weakness1HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM122330171608014
HP:0002460HP:0003810Late-onset distal muscle weakness1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM111385542600502
HP:0002460HP:0003392First dorsal interossei muscle weakness1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM111385542600502
HP:0002460HP:0009053Distal lower limb muscle weakness1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM111385542600502
HP:0002460HP:0008959Distal upper limb muscle weakness1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM111385542600502
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM111385542600502
HP:0002460HP:0009063Progressive distal muscle weakness1IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM111385542600502
HP:0002460HP:0003392First dorsal interossei muscle weakness1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1132523791610982
HP:0002460HP:0009053Distal lower limb muscle weakness1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1132523791610982
HP:0002460HP:0008959Distal upper limb muscle weakness1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1132523791610982
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1132523791610982
HP:0002460HP:0009063Progressive distal muscle weakness1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1132523791610982
HP:0002460HP:0003810Late-onset distal muscle weakness1INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1132523791610982
HP:0002460HP:0009063Progressive distal muscle weakness1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM15714201605266
HP:0002460HP:0003810Late-onset distal muscle weakness1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM15714201605266
HP:0002460HP:0009053Distal lower limb muscle weakness1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM15714201605266
HP:0002460HP:0003392First dorsal interossei muscle weakness1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM15714201605266
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM15714201605266
HP:0002460HP:0008959Distal upper limb muscle weakness1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM15714201605266
HP:0002460HP:0003810Late-onset distal muscle weakness1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0002460HP:0009053Distal lower limb muscle weakness1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0002460HP:0003392First dorsal interossei muscle weakness1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0002460HP:0008959Distal upper limb muscle weakness1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0002460HP:0009063Progressive distal muscle weakness1KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0002460HP:0003810Late-onset distal muscle weakness1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002460HP:0009053Distal lower limb muscle weakness1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002460HP:0003392First dorsal interossei muscle weakness1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002460HP:0008959Distal upper limb muscle weakness1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002460HP:0009063Progressive distal muscle weakness1LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM129016841603795
HP:0002460HP:0008959Distal upper limb muscle weakness1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM129016841603795
HP:0002460HP:0009063Progressive distal muscle weakness1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM129016841603795
HP:0002460HP:0003810Late-onset distal muscle weakness1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM129016841603795
HP:0002460HP:0009053Distal lower limb muscle weakness1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM129016841603795
HP:0002460HP:0003392First dorsal interossei muscle weakness1LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM129016841603795
HP:0002460HP:0009053Distal lower limb muscle weakness1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM118146636150330
HP:0002460HP:0003392First dorsal interossei muscle weakness1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM118146636150330
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM118146636150330
HP:0002460HP:0008959Distal upper limb muscle weakness1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM118146636150330
HP:0002460HP:0009063Progressive distal muscle weakness1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM118146636150330
HP:0002460HP:0003810Late-onset distal muscle weakness1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM118146636150330
HP:0002460HP:0003810Late-onset distal muscle weakness1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM179225135610933
HP:0002460HP:0009053Distal lower limb muscle weakness1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM179225135610933
HP:0002460HP:0003392First dorsal interossei muscle weakness1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM179225135610933
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM179225135610933
HP:0002460HP:0008959Distal upper limb muscle weakness1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM179225135610933
HP:0002460HP:0009063Progressive distal muscle weakness1LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM179225135610933
HP:0002460HP:0003810Late-onset distal muscle weakness1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM136817797609479
HP:0002460HP:0009053Distal lower limb muscle weakness1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM136817797609479
HP:0002460HP:0003392First dorsal interossei muscle weakness1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM136817797609479
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM136817797609479
HP:0002460HP:0008959Distal upper limb muscle weakness1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM136817797609479
HP:0002460HP:0009063Progressive distal muscle weakness1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM136817797609479
HP:0002460HP:0009063Progressive distal muscle weakness1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002460HP:0003810Late-onset distal muscle weakness1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002460HP:0009053Distal lower limb muscle weakness1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002460HP:0003392First dorsal interossei muscle weakness1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002460HP:0008959Distal upper limb muscle weakness1MATR3 CL E G H9782600ORPHA14506912164015
HP:0002460HP:0003810Late-onset distal muscle weakness1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002460HP:0003392First dorsal interossei muscle weakness1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002460HP:0009053Distal lower limb muscle weakness1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002460HP:0008959Distal upper limb muscle weakness1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002460HP:0009063Progressive distal muscle weakness1MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM166628845610197
HP:0002460HP:0008959Distal upper limb muscle weakness1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM166628845610197
HP:0002460HP:0009063Progressive distal muscle weakness1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM166628845610197
HP:0002460HP:0003810Late-onset distal muscle weakness1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM166628845610197
HP:0002460HP:0003392First dorsal interossei muscle weakness1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM166628845610197
HP:0002460HP:0009053Distal lower limb muscle weakness1MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM166628845610197
HP:0002460HP:0009053Distal lower limb muscle weakness1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0002460HP:0003392First dorsal interossei muscle weakness1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0002460HP:0008959Distal upper limb muscle weakness1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0002460HP:0009063Progressive distal muscle weakness1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0002460HP:0003810Late-onset distal muscle weakness1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0002460HP:0009063Progressive distal muscle weakness1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1122216877608507
HP:0002460HP:0003810Late-onset distal muscle weakness1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1122216877608507
HP:0002460HP:0009053Distal lower limb muscle weakness1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1122216877608507
HP:0002460HP:0003392First dorsal interossei muscle weakness1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1122216877608507
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1122216877608507
HP:0002460HP:0008959Distal upper limb muscle weakness1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1122216877608507
HP:0002460HP:0009053Distal lower limb muscle weakness1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0002460HP:0003392First dorsal interossei muscle weakness1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0002460HP:0008959Distal upper limb muscle weakness1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0002460HP:0009063Progressive distal muscle weakness1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0002460HP:0003810Late-onset distal muscle weakness1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0002460HP:0009053Distal lower limb muscle weakness1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM16077225159440
HP:0002460HP:0003392First dorsal interossei muscle weakness1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM16077225159440
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM16077225159440
HP:0002460HP:0008959Distal upper limb muscle weakness1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM16077225159440
HP:0002460HP:0009063Progressive distal muscle weakness1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM16077225159440
HP:0002460HP:0003810Late-onset distal muscle weakness1MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM16077225159440
HP:0002460HP:0009063Progressive distal muscle weakness1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM16077225159440
HP:0002460HP:0003810Late-onset distal muscle weakness1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM16077225159440
HP:0002460HP:0009053Distal lower limb muscle weakness1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM16077225159440
HP:0002460HP:0003392First dorsal interossei muscle weakness1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM16077225159440
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM16077225159440
HP:0002460HP:0008959Distal upper limb muscle weakness1MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM16077225159440
HP:0002460HP:0003810Late-onset distal muscle weakness1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002460HP:0003392First dorsal interossei muscle weakness1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002460HP:0009053Distal lower limb muscle weakness1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002460HP:0008959Distal upper limb muscle weakness1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002460HP:0009063Progressive distal muscle weakness1MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002460HP:0009063Progressive distal muscle weakness1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0002460HP:0003810Late-onset distal muscle weakness1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0002460HP:0009053Distal lower limb muscle weakness1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0002460HP:0003392First dorsal interossei muscle weakness1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0002460HP:0008959Distal upper limb muscle weakness1MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0002460HP:0003810Late-onset distal muscle weakness1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0002460HP:0009053Distal lower limb muscle weakness1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0002460HP:0003392First dorsal interossei muscle weakness1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0002460HP:0008959Distal upper limb muscle weakness1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0002460HP:0009063Progressive distal muscle weakness1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM16077225159440
HP:0002460HP:0008959Distal upper limb muscle weakness1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM16077225159440
HP:0002460HP:0009063Progressive distal muscle weakness1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM16077225159440
HP:0002460HP:0003810Late-onset distal muscle weakness1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM16077225159440
HP:0002460HP:0009053Distal lower limb muscle weakness1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM16077225159440
HP:0002460HP:0003392First dorsal interossei muscle weakness1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM16077225159440
HP:0002460HP:0003810Late-onset distal muscle weakness1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM15407450603557
HP:0002460HP:0009053Distal lower limb muscle weakness1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM15407450603557
HP:0002460HP:0003392First dorsal interossei muscle weakness1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM15407450603557
HP:0002460HP:0008959Distal upper limb muscle weakness1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM15407450603557
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM15407450603557
HP:0002460HP:0009063Progressive distal muscle weakness1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM15407450603557
HP:0002460HP:0009063Progressive distal muscle weakness1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0002460HP:0003810Late-onset distal muscle weakness1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0002460HP:0003392First dorsal interossei muscle weakness1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0002460HP:0009053Distal lower limb muscle weakness1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0002460HP:0008959Distal upper limb muscle weakness1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0002460HP:0009053Distal lower limb muscle weakness1MYH7 CL E G H462559135ORPHA141067577160760
HP:0002460HP:0003392First dorsal interossei muscle weakness1MYH7 CL E G H462559135ORPHA141067577160760
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MYH7 CL E G H462559135ORPHA141067577160760
HP:0002460HP:0008959Distal upper limb muscle weakness1MYH7 CL E G H462559135ORPHA141067577160760
HP:0002460HP:0009063Progressive distal muscle weakness1MYH7 CL E G H462559135ORPHA141067577160760
HP:0002460HP:0003810Late-onset distal muscle weakness1MYH7 CL E G H462559135ORPHA141067577160760
HP:0002460HP:0009063Progressive distal muscle weakness1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM141067577160760
HP:0002460HP:0003810Late-onset distal muscle weakness1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM141067577160760
HP:0002460HP:0003392First dorsal interossei muscle weakness1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM141067577160760
HP:0002460HP:0009053Distal lower limb muscle weakness1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM141067577160760
HP:0002460HP:0008959Distal upper limb muscle weakness1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM141067577160760
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM141067577160760
HP:0002460HP:0009063Progressive distal muscle weakness1MYOT CL E G H9499266ORPHA137212399604103
HP:0002460HP:0003810Late-onset distal muscle weakness1MYOT CL E G H9499266ORPHA137212399604103
HP:0002460HP:0009053Distal lower limb muscle weakness1MYOT CL E G H9499266ORPHA137212399604103
HP:0002460HP:0003392First dorsal interossei muscle weakness1MYOT CL E G H9499266ORPHA137212399604103
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MYOT CL E G H9499266ORPHA137212399604103
HP:0002460HP:0008959Distal upper limb muscle weakness1MYOT CL E G H9499266ORPHA137212399604103
HP:0002460HP:0003810Late-onset distal muscle weakness1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002460HP:0009053Distal lower limb muscle weakness1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002460HP:0003392First dorsal interossei muscle weakness1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002460HP:0008959Distal upper limb muscle weakness1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002460HP:0009063Progressive distal muscle weakness1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002460HP:0003810Late-onset distal muscle weakness1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0002460HP:0009053Distal lower limb muscle weakness1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0002460HP:0003392First dorsal interossei muscle weakness1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0002460HP:0008959Distal upper limb muscle weakness1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0002460HP:0009063Progressive distal muscle weakness1NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0002460HP:0008959Distal upper limb muscle weakness1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM17347679605262
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM17347679605262
HP:0002460HP:0009063Progressive distal muscle weakness1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM17347679605262
HP:0002460HP:0003810Late-onset distal muscle weakness1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM17347679605262
HP:0002460HP:0003392First dorsal interossei muscle weakness1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM17347679605262
HP:0002460HP:0009053Distal lower limb muscle weakness1NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM17347679605262
HP:0002460HP:0009053Distal lower limb muscle weakness1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM16147739162280
HP:0002460HP:0003392First dorsal interossei muscle weakness1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM16147739162280
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM16147739162280
HP:0002460HP:0008959Distal upper limb muscle weakness1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM16147739162280
HP:0002460HP:0009063Progressive distal muscle weakness1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM16147739162280
HP:0002460HP:0003810Late-onset distal muscle weakness1NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM16147739162280
HP:0002460HP:0009063Progressive distal muscle weakness1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM16147739162280
HP:0002460HP:0003810Late-onset distal muscle weakness1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM16147739162280
HP:0002460HP:0009053Distal lower limb muscle weakness1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM16147739162280
HP:0002460HP:0003392First dorsal interossei muscle weakness1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM16147739162280
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM16147739162280
HP:0002460HP:0008959Distal upper limb muscle weakness1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM16147739162280
HP:0002460HP:0009053Distal lower limb muscle weakness1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM16147739162280
HP:0002460HP:0003392First dorsal interossei muscle weakness1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM16147739162280
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM16147739162280
HP:0002460HP:0008959Distal upper limb muscle weakness1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM16147739162280
HP:0002460HP:0009063Progressive distal muscle weakness1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM16147739162280
HP:0002460HP:0003810Late-onset distal muscle weakness1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM16147739162280
HP:0002460HP:0003392First dorsal interossei muscle weakness1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002460HP:0009053Distal lower limb muscle weakness1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002460HP:0008959Distal upper limb muscle weakness1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002460HP:0009063Progressive distal muscle weakness1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002460HP:0003810Late-onset distal muscle weakness1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002460HP:0009063Progressive distal muscle weakness1PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM1108029105611101
HP:0002460HP:0003810Late-onset distal muscle weakness1PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM1108029105611101
HP:0002460HP:0003392First dorsal interossei muscle weakness1PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM1108029105611101
HP:0002460HP:0009053Distal lower limb muscle weakness1PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM1108029105611101
HP:0002460HP:0008959Distal upper limb muscle weakness1PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM1108029105611101
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM1108029105611101
HP:0002460HP:0009063Progressive distal muscle weakness1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM1108029105611101
HP:0002460HP:0003810Late-onset distal muscle weakness1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM1108029105611101
HP:0002460HP:0009053Distal lower limb muscle weakness1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM1108029105611101
HP:0002460HP:0003392First dorsal interossei muscle weakness1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM1108029105611101
HP:0002460HP:0008959Distal upper limb muscle weakness1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM1108029105611101
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM1108029105611101
HP:0002460HP:0009063Progressive distal muscle weakness1PMP22 CL E G H5376101081ORPHA14929118601097
HP:0002460HP:0003810Late-onset distal muscle weakness1PMP22 CL E G H5376101081ORPHA14929118601097
HP:0002460HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H5376101081ORPHA14929118601097
HP:0002460HP:0003392First dorsal interossei muscle weakness1PMP22 CL E G H5376101081ORPHA14929118601097
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PMP22 CL E G H5376101081ORPHA14929118601097
HP:0002460HP:0008959Distal upper limb muscle weakness1PMP22 CL E G H5376101081ORPHA14929118601097
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0002460HP:0008959Distal upper limb muscle weakness1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0002460HP:0009063Progressive distal muscle weakness1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0002460HP:0003810Late-onset distal muscle weakness1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0002460HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0002460HP:0003392First dorsal interossei muscle weakness1PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0002460HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0002460HP:0003392First dorsal interossei muscle weakness1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0002460HP:0008959Distal upper limb muscle weakness1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0002460HP:0009063Progressive distal muscle weakness1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0002460HP:0003810Late-onset distal muscle weakness1PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0002460HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0002460HP:0003392First dorsal interossei muscle weakness1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0002460HP:0008959Distal upper limb muscle weakness1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0002460HP:0009063Progressive distal muscle weakness1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0002460HP:0003810Late-onset distal muscle weakness1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0002460HP:0009063Progressive distal muscle weakness1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14929118601097
HP:0002460HP:0003810Late-onset distal muscle weakness1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14929118601097
HP:0002460HP:0003392First dorsal interossei muscle weakness1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14929118601097
HP:0002460HP:0009053Distal lower limb muscle weakness1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14929118601097
HP:0002460HP:0008959Distal upper limb muscle weakness1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14929118601097
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14929118601097
HP:0002460HP:0009053Distal lower limb muscle weakness1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM1121616268603197
HP:0002460HP:0003392First dorsal interossei muscle weakness1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM1121616268603197
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM1121616268603197
HP:0002460HP:0008959Distal upper limb muscle weakness1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM1121616268603197
HP:0002460HP:0009063Progressive distal muscle weakness1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM1121616268603197
HP:0002460HP:0003810Late-onset distal muscle weakness1PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM1121616268603197
HP:0002460HP:0009063Progressive distal muscle weakness1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002460HP:0003810Late-onset distal muscle weakness1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002460HP:0009053Distal lower limb muscle weakness1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002460HP:0003392First dorsal interossei muscle weakness1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002460HP:0008959Distal upper limb muscle weakness1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002460HP:0008959Distal upper limb muscle weakness1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002460HP:0009063Progressive distal muscle weakness1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002460HP:0003810Late-onset distal muscle weakness1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002460HP:0003392First dorsal interossei muscle weakness1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002460HP:0009053Distal lower limb muscle weakness1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002460HP:0003810Late-onset distal muscle weakness1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002460HP:0009053Distal lower limb muscle weakness1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002460HP:0003392First dorsal interossei muscle weakness1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002460HP:0008959Distal upper limb muscle weakness1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002460HP:0009063Progressive distal muscle weakness1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002460HP:0009053Distal lower limb muscle weakness1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0002460HP:0003392First dorsal interossei muscle weakness1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0002460HP:0008959Distal upper limb muscle weakness1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0002460HP:0009063Progressive distal muscle weakness1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0002460HP:0003810Late-onset distal muscle weakness1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0002460HP:0008959Distal upper limb muscle weakness1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0002460HP:0009063Progressive distal muscle weakness1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0002460HP:0003810Late-onset distal muscle weakness1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0002460HP:0009053Distal lower limb muscle weakness1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0002460HP:0003392First dorsal interossei muscle weakness1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0002460HP:0008959Distal upper limb muscle weakness1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0002460HP:0009063Progressive distal muscle weakness1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0002460HP:0003810Late-onset distal muscle weakness1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0002460HP:0009053Distal lower limb muscle weakness1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0002460HP:0003392First dorsal interossei muscle weakness1PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0002460HP:0009053Distal lower limb muscle weakness1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11939788602298
HP:0002460HP:0003392First dorsal interossei muscle weakness1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11939788602298
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11939788602298
HP:0002460HP:0008959Distal upper limb muscle weakness1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11939788602298
HP:0002460HP:0009063Progressive distal muscle weakness1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11939788602298
HP:0002460HP:0003810Late-onset distal muscle weakness1RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11939788602298
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM143425786609139
HP:0002460HP:0008959Distal upper limb muscle weakness1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM143425786609139
HP:0002460HP:0009063Progressive distal muscle weakness1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM143425786609139
HP:0002460HP:0003810Late-onset distal muscle weakness1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM143425786609139
HP:0002460HP:0009053Distal lower limb muscle weakness1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM143425786609139
HP:0002460HP:0003392First dorsal interossei muscle weakness1REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM143425786609139
HP:0002460HP:0009053Distal lower limb muscle weakness1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002460HP:0003392First dorsal interossei muscle weakness1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002460HP:0008959Distal upper limb muscle weakness1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002460HP:0009063Progressive distal muscle weakness1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002460HP:0003810Late-onset distal muscle weakness1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002460HP:0003810Late-onset distal muscle weakness1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0002460HP:0009053Distal lower limb muscle weakness1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0002460HP:0003392First dorsal interossei muscle weakness1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0002460HP:0008959Distal upper limb muscle weakness1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0002460HP:0009063Progressive distal muscle weakness1SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0002460HP:0008959Distal upper limb muscle weakness1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0002460HP:0009063Progressive distal muscle weakness1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0002460HP:0003810Late-onset distal muscle weakness1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0002460HP:0003392First dorsal interossei muscle weakness1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0002460HP:0009053Distal lower limb muscle weakness1SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0002460HP:0003810Late-onset distal muscle weakness1SETX CL E G H23064357043ORPHA11556445608465
HP:0002460HP:0009053Distal lower limb muscle weakness1SETX CL E G H23064357043ORPHA11556445608465
HP:0002460HP:0003392First dorsal interossei muscle weakness1SETX CL E G H23064357043ORPHA11556445608465
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SETX CL E G H23064357043ORPHA11556445608465
HP:0002460HP:0008959Distal upper limb muscle weakness1SETX CL E G H23064357043ORPHA11556445608465
HP:0002460HP:0009063Progressive distal muscle weakness1SETX CL E G H23064357043ORPHA11556445608465
HP:0002460HP:0009053Distal lower limb muscle weakness1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0002460HP:0003392First dorsal interossei muscle weakness1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0002460HP:0008959Distal upper limb muscle weakness1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0002460HP:0009063Progressive distal muscle weakness1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0002460HP:0003810Late-onset distal muscle weakness1SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0002460HP:0009063Progressive distal muscle weakness1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1167429427608206
HP:0002460HP:0003810Late-onset distal muscle weakness1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1167429427608206
HP:0002460HP:0009053Distal lower limb muscle weakness1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1167429427608206
HP:0002460HP:0003392First dorsal interossei muscle weakness1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1167429427608206
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1167429427608206
HP:0002460HP:0008959Distal upper limb muscle weakness1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1167429427608206
HP:0002460HP:0009053Distal lower limb muscle weakness1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12478157601978
HP:0002460HP:0003392First dorsal interossei muscle weakness1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12478157601978
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12478157601978
HP:0002460HP:0008959Distal upper limb muscle weakness1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12478157601978
HP:0002460HP:0009063Progressive distal muscle weakness1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12478157601978
HP:0002460HP:0003810Late-onset distal muscle weakness1SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12478157601978
HP:0002460HP:0009063Progressive distal muscle weakness1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0002460HP:0003810Late-onset distal muscle weakness1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0002460HP:0009053Distal lower limb muscle weakness1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0002460HP:0003392First dorsal interossei muscle weakness1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0002460HP:0008959Distal upper limb muscle weakness1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0002460HP:0009063Progressive distal muscle weakness1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM137811190602229
HP:0002460HP:0003810Late-onset distal muscle weakness1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM137811190602229
HP:0002460HP:0009053Distal lower limb muscle weakness1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM137811190602229
HP:0002460HP:0003392First dorsal interossei muscle weakness1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM137811190602229
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM137811190602229
HP:0002460HP:0008959Distal upper limb muscle weakness1SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM137811190602229
HP:0002460HP:0003810Late-onset distal muscle weakness1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0002460HP:0003392First dorsal interossei muscle weakness1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0002460HP:0009053Distal lower limb muscle weakness1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0002460HP:0008959Distal upper limb muscle weakness1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0002460HP:0009063Progressive distal muscle weakness1SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0002460HP:0003810Late-onset distal muscle weakness1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0002460HP:0009053Distal lower limb muscle weakness1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0002460HP:0003392First dorsal interossei muscle weakness1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0002460HP:0008959Distal upper limb muscle weakness1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0002460HP:0009063Progressive distal muscle weakness1SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0002460HP:0003810Late-onset distal muscle weakness1SPTLC2 CL E G H9517613640Hereditary sensory and autonomic neuropathy type IC613640C3150896OMIM158211278605713
HP:0002460HP:0009053Distal lower limb muscle weakness1SPTLC2 CL E G H9517613640Hereditary sensory and autonomic neuropathy type IC613640C3150896OMIM158211278605713
HP:0002460HP:0003392First dorsal interossei muscle weakness1SPTLC2 CL E G H9517613640Hereditary sensory and autonomic neuropathy type IC613640C3150896OMIM158211278605713
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SPTLC2 CL E G H9517613640Hereditary sensory and autonomic neuropathy type IC613640C3150896OMIM158211278605713
HP:0002460HP:0008959Distal upper limb muscle weakness1SPTLC2 CL E G H9517613640Hereditary sensory and autonomic neuropathy type IC613640C3150896OMIM158211278605713
HP:0002460HP:0009063Progressive distal muscle weakness1SPTLC2 CL E G H9517613640Hereditary sensory and autonomic neuropathy type IC613640C3150896OMIM158211278605713
HP:0002460HP:0009063Progressive distal muscle weakness1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002460HP:0003810Late-onset distal muscle weakness1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002460HP:0009053Distal lower limb muscle weakness1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002460HP:0003392First dorsal interossei muscle weakness1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002460HP:0008959Distal upper limb muscle weakness1SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002460HP:0003810Late-onset distal muscle weakness1SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM123211510600104
HP:0002460HP:0009053Distal lower limb muscle weakness1SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM123211510600104
HP:0002460HP:0003392First dorsal interossei muscle weakness1SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM123211510600104
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM123211510600104
HP:0002460HP:0008959Distal upper limb muscle weakness1SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM123211510600104
HP:0002460HP:0009063Progressive distal muscle weakness1SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM123211510600104
HP:0002460HP:0003810Late-onset distal muscle weakness1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002460HP:0003392First dorsal interossei muscle weakness1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002460HP:0009053Distal lower limb muscle weakness1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002460HP:0008959Distal upper limb muscle weakness1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002460HP:0009063Progressive distal muscle weakness1TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002460HP:0009053Distal lower limb muscle weakness1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002460HP:0003392First dorsal interossei muscle weakness1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002460HP:0008959Distal upper limb muscle weakness1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002460HP:0009063Progressive distal muscle weakness1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002460HP:0003810Late-onset distal muscle weakness1TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002460HP:0009053Distal lower limb muscle weakness1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM125011802603518
HP:0002460HP:0003392First dorsal interossei muscle weakness1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM125011802603518
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM125011802603518
HP:0002460HP:0008959Distal upper limb muscle weakness1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM125011802603518
HP:0002460HP:0009063Progressive distal muscle weakness1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM125011802603518
HP:0002460HP:0003810Late-onset distal muscle weakness1TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM125011802603518
HP:0002460HP:0009063Progressive distal muscle weakness1TK2 CL E G H7084254875ORPHA144211831188250
HP:0002460HP:0003810Late-onset distal muscle weakness1TK2 CL E G H7084254875ORPHA144211831188250
HP:0002460HP:0009053Distal lower limb muscle weakness1TK2 CL E G H7084254875ORPHA144211831188250
HP:0002460HP:0003392First dorsal interossei muscle weakness1TK2 CL E G H7084254875ORPHA144211831188250
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1TK2 CL E G H7084254875ORPHA144211831188250
HP:0002460HP:0008959Distal upper limb muscle weakness1TK2 CL E G H7084254875ORPHA144211831188250
HP:0002460HP:0009053Distal lower limb muscle weakness1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0002460HP:0003392First dorsal interossei muscle weakness1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0002460HP:0008959Distal upper limb muscle weakness1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0002460HP:0009063Progressive distal muscle weakness1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0002460HP:0003810Late-onset distal muscle weakness1TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM1101818083605427
HP:0002460HP:0008959Distal upper limb muscle weakness1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM1101818083605427
HP:0002460HP:0009063Progressive distal muscle weakness1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM1101818083605427
HP:0002460HP:0003810Late-onset distal muscle weakness1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM1101818083605427
HP:0002460HP:0009053Distal lower limb muscle weakness1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM1101818083605427
HP:0002460HP:0003392First dorsal interossei muscle weakness1TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM1101818083605427
HP:0002460HP:0009063Progressive distal muscle weakness1TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM12750312403188840
HP:0002460HP:0003810Late-onset distal muscle weakness1TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM12750312403188840
HP:0002460HP:0009053Distal lower limb muscle weakness1TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM12750312403188840
HP:0002460HP:0003392First dorsal interossei muscle weakness1TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM12750312403188840
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM12750312403188840
HP:0002460HP:0008959Distal upper limb muscle weakness1TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM12750312403188840
HP:0002460HP:0009063Progressive distal muscle weakness1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002460HP:0003810Late-onset distal muscle weakness1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002460HP:0009053Distal lower limb muscle weakness1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002460HP:0003392First dorsal interossei muscle weakness1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002460HP:0008959Distal upper limb muscle weakness1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002460HP:0008959Distal upper limb muscle weakness1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002460HP:0009063Progressive distal muscle weakness1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002460HP:0003810Late-onset distal muscle weakness1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002460HP:0009053Distal lower limb muscle weakness1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002460HP:0003392First dorsal interossei muscle weakness1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002460HP:0003810Late-onset distal muscle weakness1VCP CL E G H741552430ORPHA160712666601023
HP:0002460HP:0009063Progressive distal muscle weakness1VCP CL E G H7415435387ORPHA160712666601023
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1VCP CL E G H7415329478ORPHA160712666601023
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1VCP CL E G H7415275872ORPHA160712666601023
HP:0002460HP:0008959Distal upper limb muscle weakness1VCP CL E G H7415329478ORPHA160712666601023
HP:0002460HP:0008959Distal upper limb muscle weakness1VCP CL E G H7415275872ORPHA160712666601023
HP:0002460HP:0009063Progressive distal muscle weakness1VCP CL E G H7415329478ORPHA160712666601023
HP:0002460HP:0009053Distal lower limb muscle weakness1VCP CL E G H741552430ORPHA160712666601023
HP:0002460HP:0009063Progressive distal muscle weakness1VCP CL E G H7415275872ORPHA160712666601023
HP:0002460HP:0003392First dorsal interossei muscle weakness1VCP CL E G H741552430ORPHA160712666601023
HP:0002460HP:0003810Late-onset distal muscle weakness1VCP CL E G H7415435387ORPHA160712666601023
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1VCP CL E G H741552430ORPHA160712666601023
HP:0002460HP:0003810Late-onset distal muscle weakness1VCP CL E G H7415275872ORPHA160712666601023
HP:0002460HP:0009053Distal lower limb muscle weakness1VCP CL E G H7415435387ORPHA160712666601023
HP:0002460HP:0008959Distal upper limb muscle weakness1VCP CL E G H741552430ORPHA160712666601023
HP:0002460HP:0003392First dorsal interossei muscle weakness1VCP CL E G H7415435387ORPHA160712666601023
HP:0002460HP:0003810Late-onset distal muscle weakness1VCP CL E G H7415329478ORPHA160712666601023
HP:0002460HP:0008959Distal upper limb muscle weakness1VCP CL E G H7415435387ORPHA160712666601023
HP:0002460HP:0009063Progressive distal muscle weakness1VCP CL E G H741552430ORPHA160712666601023
HP:0002460HP:0009053Distal lower limb muscle weakness1VCP CL E G H7415329478ORPHA160712666601023
HP:0002460HP:0009053Distal lower limb muscle weakness1VCP CL E G H7415275872ORPHA160712666601023
HP:0002460HP:0003392First dorsal interossei muscle weakness1VCP CL E G H7415329478ORPHA160712666601023
HP:0002460HP:0003392First dorsal interossei muscle weakness1VCP CL E G H7415275872ORPHA160712666601023
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1VCP CL E G H7415435387ORPHA160712666601023
HP:0002460HP:0009053Distal lower limb muscle weakness1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0002460HP:0003392First dorsal interossei muscle weakness1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0002460HP:0008959Distal upper limb muscle weakness1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0002460HP:0009063Progressive distal muscle weakness1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0002460HP:0003810Late-onset distal muscle weakness1VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0002460HP:0003810Late-onset distal muscle weakness1YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0002460HP:0009053Distal lower limb muscle weakness1YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0002460HP:0003392First dorsal interossei muscle weakness1YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0002460HP:0008959Distal upper limb muscle weakness1YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0002460HP:0009063Progressive distal muscle weakness1YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0002460HP:0008963Tibialis muscle weakness2AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0002460HP:0011727Peroneal muscle weakness2AARS CL E G H16613287Charcot-Marie-Tooth disease, type 2N613287C2750090OMIM120601065
HP:0002460HP:0008963Tibialis muscle weakness2ABCA1 CL E G H1931150ORPHA1128029600046
HP:0002460HP:0011727Peroneal muscle weakness2ABCA1 CL E G H1931150ORPHA1128029600046
HP:0002460HP:0008963Tibialis muscle weakness2ACTA1 CL E G H5897240ORPHA1506129102610
HP:0002460HP:0011727Peroneal muscle weakness2ACTA1 CL E G H5897240ORPHA1506129102610
HP:0002460HP:0011727Peroneal muscle weakness2AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002460HP:0008963Tibialis muscle weakness2AFG3L2 CL E G H10939313772ORPHA1480315604581
HP:0002460HP:0008963Tibialis muscle weakness2AIFM1 CL E G H9131101078ORPHA15758768300169
HP:0002460HP:0011727Peroneal muscle weakness2AIFM1 CL E G H9131101078ORPHA15758768300169
HP:0002460HP:0008963Tibialis muscle weakness2ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0002460HP:0011727Peroneal muscle weakness2ANG CL E G H283611895Amyotrophic lateral sclerosis type 9611895C2678468OMIM1114483105850
HP:0002460HP:0008963Tibialis muscle weakness2ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM1116227337608662
HP:0002460HP:0011727Peroneal muscle weakness2ANO5 CL E G H203859613319Miyoshi muscular dystrophy 3613319C2750076OMIM1116227337608662
HP:0002460HP:0008963Tibialis muscle weakness2ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11751869300011
HP:0002460HP:0011727Peroneal muscle weakness2ATP7A CL E G H538300489Distal spinal muscular atrophy, X-linked 3300489C1845359OMIM11751869300011
HP:0002460HP:0008963Tibialis muscle weakness2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002460HP:0011727Peroneal muscle weakness2ATXN3 CL E G H4287276244ORPHA1657106607047
HP:0002460HP:0008963Tibialis muscle weakness2BICD2 CL E G H23299363454ORPHA174017208609797
HP:0002460HP:0011727Peroneal muscle weakness2BICD2 CL E G H23299363454ORPHA174017208609797
HP:0002460HP:0008963Tibialis muscle weakness2BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0002460HP:0011727Peroneal muscle weakness2BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM16561052601248
HP:0002460HP:0008963Tibialis muscle weakness2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0002460HP:0011727Peroneal muscle weakness2BSCL2 CL E G H26580600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM151015832606158
HP:0002460HP:0008963Tibialis muscle weakness2C19orf12 CL E G H83636320370ORPHA130725443614297
HP:0002460HP:0011727Peroneal muscle weakness2C19orf12 CL E G H83636320370ORPHA130725443614297
HP:0002460HP:0008963Tibialis muscle weakness2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0002460HP:0011727Peroneal muscle weakness2C19orf12 CL E G H83636614298Neurodegeneration with brain iron accumulation 4614298C3280371OMIM130725443614297
HP:0002460HP:0011727Peroneal muscle weakness2C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002460HP:0008963Tibialis muscle weakness2C9orf72 CL E G H203228275872ORPHA117728337614260
HP:0002460HP:0008963Tibialis muscle weakness2CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002460HP:0011727Peroneal muscle weakness2CHCHD10 CL E G H400916275872ORPHA129715559615903
HP:0002460HP:0011727Peroneal muscle weakness2COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM117182211120220
HP:0002460HP:0008963Tibialis muscle weakness2COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM117182211120220
HP:0002460HP:0008963Tibialis muscle weakness2COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119282212120240
HP:0002460HP:0011727Peroneal muscle weakness2COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119282212120240
HP:0002460HP:0011727Peroneal muscle weakness2COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119282212120240
HP:0002460HP:0008963Tibialis muscle weakness2COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM119282212120240
HP:0002460HP:0008963Tibialis muscle weakness2COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM130012213120250
HP:0002460HP:0011727Peroneal muscle weakness2COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM130012213120250
HP:0002460HP:0008963Tibialis muscle weakness2COLQ CL E G H829298915ORPHA15422226603033
HP:0002460HP:0011727Peroneal muscle weakness2COLQ CL E G H829298915ORPHA15422226603033
HP:0002460HP:0011727Peroneal muscle weakness2CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0002460HP:0008963Tibialis muscle weakness2CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0002460HP:0008963Tibialis muscle weakness2DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM14924891615820
HP:0002460HP:0011727Peroneal muscle weakness2DCAF8 CL E G H50717610100Giant axonal neuropathy 2, autosomal dominant610100C1864695OMIM14924891615820
HP:0002460HP:0008963Tibialis muscle weakness2DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM110842711601143
HP:0002460HP:0011727Peroneal muscle weakness2DCTN1 CL E G H1639607641Distal hereditary motor neuronopathy type 7B607641C1843315OMIM110842711601143
HP:0002460HP:0008963Tibialis muscle weakness2DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM19762770125660
HP:0002460HP:0011727Peroneal muscle weakness2DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM19762770125660
HP:0002460HP:0008963Tibialis muscle weakness2DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0002460HP:0011727Peroneal muscle weakness2DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM12392858601465
HP:0002460HP:0011727Peroneal muscle weakness2DHH CL E G H50846168563ORPHA11022865605423
HP:0002460HP:0008963Tibialis muscle weakness2DHH CL E G H50846168563ORPHA11022865605423
HP:0002460HP:0008963Tibialis muscle weakness2DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM110882974602378
HP:0002460HP:0011727Peroneal muscle weakness2DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM110882974602378
HP:0002460HP:0008963Tibialis muscle weakness2DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM137872961600112
HP:0002460HP:0011727Peroneal muscle weakness2DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM137872961600112
HP:0002460HP:0008963Tibialis muscle weakness2DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM133553097603009
HP:0002460HP:0011727Peroneal muscle weakness2DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM133553097603009
HP:0002460HP:0011727Peroneal muscle weakness2DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM133553097603009
HP:0002460HP:0008963Tibialis muscle weakness2DYSF CL E G H8291606768Myopathy, distal, with anterior tibial onset606768C1847532OMIM133553097603009
HP:0002460HP:0011727Peroneal muscle weakness2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0002460HP:0008963Tibialis muscle weakness2EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM13733239129010
HP:0002460HP:0008963Tibialis muscle weakness2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0002460HP:0011727Peroneal muscle weakness2EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM13733239129010
HP:0002460HP:0008963Tibialis muscle weakness2EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0002460HP:0011727Peroneal muscle weakness2EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM13733239129010
HP:0002460HP:0011727Peroneal muscle weakness2FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM192616873609390
HP:0002460HP:0008963Tibialis muscle weakness2FIG4 CL E G H9896611228Charcot-Marie-Tooth disease, type 4J611228C1970011OMIM192616873609390
HP:0002460HP:0008963Tibialis muscle weakness2FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM152924682609144
HP:0002460HP:0011727Peroneal muscle weakness2FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM152924682609144
HP:0002460HP:0008963Tibialis muscle weakness2FUS CL E G H2521275872ORPHA14744010137070
HP:0002460HP:0011727Peroneal muscle weakness2FUS CL E G H2521275872ORPHA14744010137070
HP:0002460HP:0011727Peroneal muscle weakness2GAN CL E G H8139643ORPHA17774137605379
HP:0002460HP:0008963Tibialis muscle weakness2GAN CL E G H8139643ORPHA17774137605379
HP:0002460HP:0008963Tibialis muscle weakness2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002460HP:0011727Peroneal muscle weakness2GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM17774137605379
HP:0002460HP:0011727Peroneal muscle weakness2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0002460HP:0008963Tibialis muscle weakness2GARS CL E G H2617600794Distal hereditary motor neuronopathy type 5600794C1833308OMIM14162600287
HP:0002460HP:0008963Tibialis muscle weakness2GDAP1 CL E G H5433299944ORPHA153715968606598
HP:0002460HP:0011727Peroneal muscle weakness2GDAP1 CL E G H5433299944ORPHA153715968606598
HP:0002460HP:0008963Tibialis muscle weakness2GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM153715968606598
HP:0002460HP:0011727Peroneal muscle weakness2GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM153715968606598
HP:0002460HP:0008963Tibialis muscle weakness2GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM153715968606598
HP:0002460HP:0011727Peroneal muscle weakness2GDAP1 CL E G H54332607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive607706C1843183OMIM153715968606598
HP:0002460HP:0008963Tibialis muscle weakness2GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM153715968606598
HP:0002460HP:0011727Peroneal muscle weakness2GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM153715968606598
HP:0002460HP:0011727Peroneal muscle weakness2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002460HP:0008963Tibialis muscle weakness2GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM18604283304040
HP:0002460HP:0008963Tibialis muscle weakness2GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM194723657603824
HP:0002460HP:0011727Peroneal muscle weakness2GNE CL E G H10020605820Nonaka myopathy605820C1853926OMIM194723657603824
HP:0002460HP:0008963Tibialis muscle weakness2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0002460HP:0011727Peroneal muscle weakness2GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM11474670607434
HP:0002460HP:0011727Peroneal muscle weakness2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0002460HP:0008963Tibialis muscle weakness2HK1 CL E G H3098605285Neuropathy, hereditary motor and sensory, Russe type605285C1854449OMIM15594922142600
HP:0002460HP:0008963Tibialis muscle weakness2HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002460HP:0011727Peroneal muscle weakness2HNRNPA1 CL E G H317852430ORPHA1805031164017
HP:0002460HP:0008963Tibialis muscle weakness2HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002460HP:0011727Peroneal muscle weakness2HNRNPA2B1 CL E G H318152430ORPHA12955033600124
HP:0002460HP:0008963Tibialis muscle weakness2HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13665246602195
HP:0002460HP:0011727Peroneal muscle weakness2HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM13665246602195
HP:0002460HP:0008963Tibialis muscle weakness2HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM122330171608014
HP:0002460HP:0011727Peroneal muscle weakness2HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM122330171608014
HP:0002460HP:0011727Peroneal muscle weakness2IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM111385542600502
HP:0002460HP:0008963Tibialis muscle weakness2IGHMBP2 CL E G H3508604320Spinal muscular atrophy, distal, autosomal recessive, 1604320C1858517OMIM111385542600502
HP:0002460HP:0008963Tibialis muscle weakness2INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1132523791610982
HP:0002460HP:0011727Peroneal muscle weakness2INF2 CL E G H64423614455Charcot-Marie-Tooth disease, dominant intermediate E614455C3280845OMIM1132523791610982
HP:0002460HP:0008963Tibialis muscle weakness2JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM15714201605266
HP:0002460HP:0011727Peroneal muscle weakness2JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM15714201605266
HP:0002460HP:0011727Peroneal muscle weakness2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0002460HP:0008963Tibialis muscle weakness2KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM1259116636605995
HP:0002460HP:0011727Peroneal muscle weakness2LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002460HP:0008963Tibialis muscle weakness2LAMB2 CL E G H391398915ORPHA19156487150325
HP:0002460HP:0008963Tibialis muscle weakness2LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM129016841603795
HP:0002460HP:0011727Peroneal muscle weakness2LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM129016841603795
HP:0002460HP:0008963Tibialis muscle weakness2LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM118146636150330
HP:0002460HP:0011727Peroneal muscle weakness2LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM118146636150330
HP:0002460HP:0011727Peroneal muscle weakness2LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM179225135610933
HP:0002460HP:0008963Tibialis muscle weakness2LRSAM1 CL E G H90678614436Charcot-Marie-Tooth disease type 2P614436C3280797OMIM179225135610933
HP:0002460HP:0011727Peroneal muscle weakness2MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM136817797609479
HP:0002460HP:0008963Tibialis muscle weakness2MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM136817797609479
HP:0002460HP:0008963Tibialis muscle weakness2MATR3 CL E G H9782600ORPHA14506912164015
HP:0002460HP:0011727Peroneal muscle weakness2MATR3 CL E G H9782600ORPHA14506912164015
HP:0002460HP:0011727Peroneal muscle weakness2MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002460HP:0008963Tibialis muscle weakness2MATR3 CL E G H9782606070Amyotrophic lateral sclerosis 21606070C3807521OMIM14506912164015
HP:0002460HP:0008963Tibialis muscle weakness2MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM166628845610197
HP:0002460HP:0011727Peroneal muscle weakness2MED25 CL E G H81857605589Charcot-Marie-Tooth disease type 2B2605589C1854150OMIM166628845610197
HP:0002460HP:0008963Tibialis muscle weakness2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0002460HP:0011727Peroneal muscle weakness2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM1122216877608507
HP:0002460HP:0008963Tibialis muscle weakness2MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1122216877608507
HP:0002460HP:0011727Peroneal muscle weakness2MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1122216877608507
HP:0002460HP:0008963Tibialis muscle weakness2MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0002460HP:0011727Peroneal muscle weakness2MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM12647224137960
HP:0002460HP:0008963Tibialis muscle weakness2MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM16077225159440
HP:0002460HP:0011727Peroneal muscle weakness2MPZ CL E G H4359607791Charcot-Marie-Tooth disease dominant intermediate 3607791C1843075OMIM16077225159440
HP:0002460HP:0008963Tibialis muscle weakness2MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM16077225159440
HP:0002460HP:0011727Peroneal muscle weakness2MPZ CL E G H4359607677Charcot-Marie-Tooth disease type 2I607677C3888087OMIM16077225159440
HP:0002460HP:0011727Peroneal muscle weakness2MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002460HP:0008963Tibialis muscle weakness2MPZ CL E G H4359607736Charcot-Marie-Tooth disease type 2J607736C1843153OMIM16077225159440
HP:0002460HP:0008963Tibialis muscle weakness2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0002460HP:0011727Peroneal muscle weakness2MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM16077225159440
HP:0002460HP:0011727Peroneal muscle weakness2MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0002460HP:0008963Tibialis muscle weakness2MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM16077225159440
HP:0002460HP:0008963Tibialis muscle weakness2MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM16077225159440
HP:0002460HP:0011727Peroneal muscle weakness2MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM16077225159440
HP:0002460HP:0011727Peroneal muscle weakness2MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM15407450603557
HP:0002460HP:0008963Tibialis muscle weakness2MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM15407450603557
HP:0002460HP:0008963Tibialis muscle weakness2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0002460HP:0011727Peroneal muscle weakness2MYH14 CL E G H79784614369Peripheral neuropathy, myopathy, hoarseness, and hearing loss614369C3280556OMIM1106223212608568
HP:0002460HP:0008963Tibialis muscle weakness2MYH7 CL E G H462559135ORPHA141067577160760
HP:0002460HP:0011727Peroneal muscle weakness2MYH7 CL E G H462559135ORPHA141067577160760
HP:0002460HP:0008963Tibialis muscle weakness2MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM141067577160760
HP:0002460HP:0011727Peroneal muscle weakness2MYH7 CL E G H4625160500Myopathy, distal, 1160500CN074249OMIM141067577160760
HP:0002460HP:0008963Tibialis muscle weakness2MYOT CL E G H9499266ORPHA137212399604103
HP:0002460HP:0011727Peroneal muscle weakness2MYOT CL E G H9499266ORPHA137212399604103
HP:0002460HP:0011727Peroneal muscle weakness2MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002460HP:0008963Tibialis muscle weakness2MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM137212399604103
HP:0002460HP:0011727Peroneal muscle weakness2NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0002460HP:0008963Tibialis muscle weakness2NAGA CL E G H4668609242Kanzaki disease609242C1836522OMIM12307631104170
HP:0002460HP:0008963Tibialis muscle weakness2NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM17347679605262
HP:0002460HP:0011727Peroneal muscle weakness2NDRG1 CL E G H10397601455Charcot-Marie-Tooth disease, type 4D601455C1832334OMIM17347679605262
HP:0002460HP:0008963Tibialis muscle weakness2NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM16147739162280
HP:0002460HP:0011727Peroneal muscle weakness2NEFL CL E G H4747607684Charcot-Marie-Tooth disease type 2E607684C1843225OMIM16147739162280
HP:0002460HP:0008963Tibialis muscle weakness2NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM16147739162280
HP:0002460HP:0011727Peroneal muscle weakness2NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM16147739162280
HP:0002460HP:0008963Tibialis muscle weakness2NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM16147739162280
HP:0002460HP:0011727Peroneal muscle weakness2NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM16147739162280
HP:0002460HP:0008963Tibialis muscle weakness2PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002460HP:0011727Peroneal muscle weakness2PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1858565602279
HP:0002460HP:0008963Tibialis muscle weakness2PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM1108029105611101
HP:0002460HP:0011727Peroneal muscle weakness2PLEKHG5 CL E G H57449615376Charcot-Marie-Tooth disease, recessive intermediate c615376C3809309OMIM1108029105611101
HP:0002460HP:0008963Tibialis muscle weakness2PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM1108029105611101
HP:0002460HP:0011727Peroneal muscle weakness2PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM1108029105611101
HP:0002460HP:0008963Tibialis muscle weakness2PMP22 CL E G H5376101081ORPHA14929118601097
HP:0002460HP:0011727Peroneal muscle weakness2PMP22 CL E G H5376101081ORPHA14929118601097
HP:0002460HP:0008963Tibialis muscle weakness2PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0002460HP:0011727Peroneal muscle weakness2PMP22 CL E G H5376118300Charcot-Marie-Tooth disease and deafness118300C1861669OMIM14929118601097
HP:0002460HP:0008963Tibialis muscle weakness2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0002460HP:0011727Peroneal muscle weakness2PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM14929118601097
HP:0002460HP:0008963Tibialis muscle weakness2PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0002460HP:0011727Peroneal muscle weakness2PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM14929118601097
HP:0002460HP:0008963Tibialis muscle weakness2PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14929118601097
HP:0002460HP:0011727Peroneal muscle weakness2PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM14929118601097
HP:0002460HP:0008963Tibialis muscle weakness2PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM1121616268603197
HP:0002460HP:0011727Peroneal muscle weakness2PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM1121616268603197
HP:0002460HP:0008963Tibialis muscle weakness2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002460HP:0011727Peroneal muscle weakness2POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM123249179174763
HP:0002460HP:0008963Tibialis muscle weakness2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002460HP:0011727Peroneal muscle weakness2POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM123249179174763
HP:0002460HP:0011727Peroneal muscle weakness2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002460HP:0008963Tibialis muscle weakness2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA123249179174763
HP:0002460HP:0008963Tibialis muscle weakness2PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0002460HP:0011727Peroneal muscle weakness2PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM14159462311850
HP:0002460HP:0008963Tibialis muscle weakness2PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0002460HP:0011727Peroneal muscle weakness2PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM1124313797605725
HP:0002460HP:0008963Tibialis muscle weakness2PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0002460HP:0011727Peroneal muscle weakness2PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14924265608625
HP:0002460HP:0008963Tibialis muscle weakness2RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11939788602298
HP:0002460HP:0011727Peroneal muscle weakness2RAB7A CL E G H7879600882Charcot-Marie-Tooth disease, axonal, type 2b600882C1833219OMIM11939788602298
HP:0002460HP:0008963Tibialis muscle weakness2REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM143425786609139
HP:0002460HP:0011727Peroneal muscle weakness2REEP1 CL E G H65055614751Distal hereditary motor neuronopathy type 5B614751C3553656OMIM143425786609139
HP:0002460HP:0008963Tibialis muscle weakness2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002460HP:0011727Peroneal muscle weakness2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA135417296604712
HP:0002460HP:0011727Peroneal muscle weakness2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0002460HP:0008963Tibialis muscle weakness2SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1337710519604490
HP:0002460HP:0008963Tibialis muscle weakness2SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0002460HP:0011727Peroneal muscle weakness2SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM114562135607697
HP:0002460HP:0011727Peroneal muscle weakness2SETX CL E G H23064357043ORPHA11556445608465
HP:0002460HP:0008963Tibialis muscle weakness2SETX CL E G H23064357043ORPHA11556445608465
HP:0002460HP:0008963Tibialis muscle weakness2SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0002460HP:0011727Peroneal muscle weakness2SETX CL E G H23064602433Amyotrophic lateral sclerosis type 4602433C1865409OMIM11556445608465
HP:0002460HP:0008963Tibialis muscle weakness2SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1167429427608206
HP:0002460HP:0011727Peroneal muscle weakness2SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1167429427608206
HP:0002460HP:0008963Tibialis muscle weakness2SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12478157601978
HP:0002460HP:0011727Peroneal muscle weakness2SIGMAR1 CL E G H10280605726Distal spinal muscular atrophy, autosomal recessive 2605726C1854023OMIM12478157601978
HP:0002460HP:0008963Tibialis muscle weakness2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0002460HP:0011727Peroneal muscle weakness2SLC5A7 CL E G H60482158580Neuronopathy, distal hereditary motor, type viia158580C1834703OMIM145514025608761
HP:0002460HP:0008963Tibialis muscle weakness2SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM137811190602229
HP:0002460HP:0011727Peroneal muscle weakness2SOX10 CL E G H6663609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease609136C1836727OMIM137811190602229
HP:0002460HP:0011727Peroneal muscle weakness2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0002460HP:0008963Tibialis muscle weakness2SPG11 CL E G H80208602099Amyotrophic lateral sclerosis type 5602099C1865864OMIM1262511226610844
HP:0002460HP:0011727Peroneal muscle weakness2SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0002460HP:0008963Tibialis muscle weakness2SPTLC1 CL E G H10558162400Neuropathy hereditary sensory and autonomic type 1162400C0020071OMIM139111277605712
HP:0002460HP:0011727Peroneal muscle weakness2SPTLC2 CL E G H9517613640Hereditary sensory and autonomic neuropathy type IC613640C3150896OMIM158211278605713
HP:0002460HP:0008963Tibialis muscle weakness2SPTLC2 CL E G H9517613640Hereditary sensory and autonomic neuropathy type IC613640C3150896OMIM158211278605713
HP:0002460HP:0008963Tibialis muscle weakness2SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002460HP:0011727Peroneal muscle weakness2SQSTM1 CL E G H8878275872ORPHA167711280601530
HP:0002460HP:0011727Peroneal muscle weakness2SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM123211510600104
HP:0002460HP:0008963Tibialis muscle weakness2SYT2 CL E G H127833616040Myasthenic syndrome, congenital, 7, presynaptic616040C4015038OMIM123211510600104
HP:0002460HP:0011727Peroneal muscle weakness2TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002460HP:0008963Tibialis muscle weakness2TARDBP CL E G H23435275872ORPHA130911571605078
HP:0002460HP:0008963Tibialis muscle weakness2TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002460HP:0011727Peroneal muscle weakness2TBK1 CL E G H29110275872ORPHA138211584604834
HP:0002460HP:0008963Tibialis muscle weakness2TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM125011802603518
HP:0002460HP:0011727Peroneal muscle weakness2TIA1 CL E G H7072604454Welander distal myopathy604454C0221054OMIM125011802603518
HP:0002460HP:0008963Tibialis muscle weakness2TK2 CL E G H7084254875ORPHA144211831188250
HP:0002460HP:0011727Peroneal muscle weakness2TK2 CL E G H7084254875ORPHA144211831188250
HP:0002460HP:0008963Tibialis muscle weakness2TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0002460HP:0011727Peroneal muscle weakness2TRPV4 CL E G H59341606071Charcot-Marie-Tooth disease type 2C606071C2079540OMIM1101818083605427
HP:0002460HP:0008963Tibialis muscle weakness2TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM1101818083605427
HP:0002460HP:0011727Peroneal muscle weakness2TRPV4 CL E G H59341600175Distal spinal muscular atrophy, congenital nonprogressive600175C1838492OMIM1101818083605427
HP:0002460HP:0008963Tibialis muscle weakness2TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM12750312403188840
HP:0002460HP:0011727Peroneal muscle weakness2TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM12750312403188840
HP:0002460HP:0008963Tibialis muscle weakness2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002460HP:0011727Peroneal muscle weakness2TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM18953148131222
HP:0002460HP:0008963Tibialis muscle weakness2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002460HP:0011727Peroneal muscle weakness2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA18953148131222
HP:0002460HP:0011727Peroneal muscle weakness2VCP CL E G H741552430ORPHA160712666601023
HP:0002460HP:0008963Tibialis muscle weakness2VCP CL E G H7415435387ORPHA160712666601023
HP:0002460HP:0011727Peroneal muscle weakness2VCP CL E G H7415435387ORPHA160712666601023
HP:0002460HP:0008963Tibialis muscle weakness2VCP CL E G H7415329478ORPHA160712666601023
HP:0002460HP:0008963Tibialis muscle weakness2VCP CL E G H7415275872ORPHA160712666601023
HP:0002460HP:0011727Peroneal muscle weakness2VCP CL E G H7415329478ORPHA160712666601023
HP:0002460HP:0011727Peroneal muscle weakness2VCP CL E G H7415275872ORPHA160712666601023
HP:0002460HP:0008963Tibialis muscle weakness2VCP CL E G H741552430ORPHA160712666601023
HP:0002460HP:0008963Tibialis muscle weakness2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0002460HP:0011727Peroneal muscle weakness2VPS13D CL E G H55187607317Spinocerebellar ataxia autosomal recessive 4607317C1846492OMIM1103423595608877
HP:0002460HP:0011727Peroneal muscle weakness2YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
HP:0002460HP:0008963Tibialis muscle weakness2YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM112840603623
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002460HP:0002460Distal muscle weakness0ALG14 CL E G H199857353327ORPHA014428287612866
HP:0002460HP:0002460Distal muscle weakness0ALG2 CL E G H85365353327ORPHA033523159607905
HP:0002460HP:0002460Distal muscle weakness0C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002460HP:0002460Distal muscle weakness0DPAGT1 CL E G H1798353327ORPHA03122995191350
HP:0002460HP:0002460Distal muscle weakness0ELOVL5 CL E G H60481423296ORPHA010521308611805
HP:0002460HP:0002460Distal muscle weakness0FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM04543602604580
HP:0002460HP:0002460Distal muscle weakness0GFPT1 CL E G H2673353327ORPHA05244241138292
HP:0002460HP:0002460Distal muscle weakness0GMPPB CL E G H29925353327ORPHA036422932615320
HP:0002460HP:0002460Distal muscle weakness0GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0002460HP:0002460Distal muscle weakness0GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM02734699603942
HP:0002460HP:0002460Distal muscle weakness0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM011617572160740
HP:0002460HP:0002460Distal muscle weakness0RELA CL E G H5970251636ORPHA02759955164014
HP:0002460HP:0002460Distal muscle weakness0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002460HP:0002460Distal muscle weakness0VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002460HP:0009063Progressive distal muscle weakness1ALG14 CL E G H199857353327ORPHA014428287612866
HP:0002460HP:0003810Late-onset distal muscle weakness1ALG14 CL E G H199857353327ORPHA014428287612866
HP:0002460HP:0009053Distal lower limb muscle weakness1ALG14 CL E G H199857353327ORPHA014428287612866
HP:0002460HP:0003392First dorsal interossei muscle weakness1ALG14 CL E G H199857353327ORPHA014428287612866
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1ALG14 CL E G H199857353327ORPHA014428287612866
HP:0002460HP:0008959Distal upper limb muscle weakness1ALG14 CL E G H199857353327ORPHA014428287612866
HP:0002460HP:0003810Late-onset distal muscle weakness1ALG2 CL E G H85365353327ORPHA033523159607905
HP:0002460HP:0009053Distal lower limb muscle weakness1ALG2 CL E G H85365353327ORPHA033523159607905
HP:0002460HP:0003392First dorsal interossei muscle weakness1ALG2 CL E G H85365353327ORPHA033523159607905
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1ALG2 CL E G H85365353327ORPHA033523159607905
HP:0002460HP:0008959Distal upper limb muscle weakness1ALG2 CL E G H85365353327ORPHA033523159607905
HP:0002460HP:0009063Progressive distal muscle weakness1ALG2 CL E G H85365353327ORPHA033523159607905
HP:0002460HP:0009053Distal lower limb muscle weakness1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002460HP:0003392First dorsal interossei muscle weakness1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002460HP:0008959Distal upper limb muscle weakness1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002460HP:0009063Progressive distal muscle weakness1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002460HP:0003810Late-onset distal muscle weakness1C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002460HP:0009053Distal lower limb muscle weakness1DPAGT1 CL E G H1798353327ORPHA03122995191350
HP:0002460HP:0003392First dorsal interossei muscle weakness1DPAGT1 CL E G H1798353327ORPHA03122995191350
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1DPAGT1 CL E G H1798353327ORPHA03122995191350
HP:0002460HP:0008959Distal upper limb muscle weakness1DPAGT1 CL E G H1798353327ORPHA03122995191350
HP:0002460HP:0009063Progressive distal muscle weakness1DPAGT1 CL E G H1798353327ORPHA03122995191350
HP:0002460HP:0003810Late-onset distal muscle weakness1DPAGT1 CL E G H1798353327ORPHA03122995191350
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1ELOVL5 CL E G H60481423296ORPHA010521308611805
HP:0002460HP:0008959Distal upper limb muscle weakness1ELOVL5 CL E G H60481423296ORPHA010521308611805
HP:0002460HP:0009063Progressive distal muscle weakness1ELOVL5 CL E G H60481423296ORPHA010521308611805
HP:0002460HP:0003810Late-onset distal muscle weakness1ELOVL5 CL E G H60481423296ORPHA010521308611805
HP:0002460HP:0009053Distal lower limb muscle weakness1ELOVL5 CL E G H60481423296ORPHA010521308611805
HP:0002460HP:0003392First dorsal interossei muscle weakness1ELOVL5 CL E G H60481423296ORPHA010521308611805
HP:0002460HP:0009053Distal lower limb muscle weakness1FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM04543602604580
HP:0002460HP:0003392First dorsal interossei muscle weakness1FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM04543602604580
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM04543602604580
HP:0002460HP:0008959Distal upper limb muscle weakness1FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM04543602604580
HP:0002460HP:0009063Progressive distal muscle weakness1FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM04543602604580
HP:0002460HP:0003810Late-onset distal muscle weakness1FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM04543602604580
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GFPT1 CL E G H2673353327ORPHA05244241138292
HP:0002460HP:0008959Distal upper limb muscle weakness1GFPT1 CL E G H2673353327ORPHA05244241138292
HP:0002460HP:0009063Progressive distal muscle weakness1GFPT1 CL E G H2673353327ORPHA05244241138292
HP:0002460HP:0003810Late-onset distal muscle weakness1GFPT1 CL E G H2673353327ORPHA05244241138292
HP:0002460HP:0009053Distal lower limb muscle weakness1GFPT1 CL E G H2673353327ORPHA05244241138292
HP:0002460HP:0003392First dorsal interossei muscle weakness1GFPT1 CL E G H2673353327ORPHA05244241138292
HP:0002460HP:0009063Progressive distal muscle weakness1GMPPB CL E G H29925353327ORPHA036422932615320
HP:0002460HP:0003810Late-onset distal muscle weakness1GMPPB CL E G H29925353327ORPHA036422932615320
HP:0002460HP:0009053Distal lower limb muscle weakness1GMPPB CL E G H29925353327ORPHA036422932615320
HP:0002460HP:0003392First dorsal interossei muscle weakness1GMPPB CL E G H29925353327ORPHA036422932615320
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GMPPB CL E G H29925353327ORPHA036422932615320
HP:0002460HP:0008959Distal upper limb muscle weakness1GMPPB CL E G H29925353327ORPHA036422932615320
HP:0002460HP:0009063Progressive distal muscle weakness1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0002460HP:0003810Late-onset distal muscle weakness1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0002460HP:0009053Distal lower limb muscle weakness1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0002460HP:0003392First dorsal interossei muscle weakness1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0002460HP:0008959Distal upper limb muscle weakness1GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0002460HP:0003392First dorsal interossei muscle weakness1GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM02734699603942
HP:0002460HP:0009053Distal lower limb muscle weakness1GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM02734699603942
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM02734699603942
HP:0002460HP:0008959Distal upper limb muscle weakness1GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM02734699603942
HP:0002460HP:0009063Progressive distal muscle weakness1GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM02734699603942
HP:0002460HP:0003810Late-onset distal muscle weakness1GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM02734699603942
HP:0002460HP:0003810Late-onset distal muscle weakness1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM011617572160740
HP:0002460HP:0003392First dorsal interossei muscle weakness1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM011617572160740
HP:0002460HP:0009053Distal lower limb muscle weakness1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM011617572160740
HP:0002460HP:0009063Progressive distal muscle weakness1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM011617572160740
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM011617572160740
HP:0002460HP:0008959Distal upper limb muscle weakness1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM011617572160740
HP:0002460HP:0008959Distal upper limb muscle weakness1RELA CL E G H5970251636ORPHA02759955164014
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1RELA CL E G H5970251636ORPHA02759955164014
HP:0002460HP:0009063Progressive distal muscle weakness1RELA CL E G H5970251636ORPHA02759955164014
HP:0002460HP:0003810Late-onset distal muscle weakness1RELA CL E G H5970251636ORPHA02759955164014
HP:0002460HP:0003392First dorsal interossei muscle weakness1RELA CL E G H5970251636ORPHA02759955164014
HP:0002460HP:0009053Distal lower limb muscle weakness1RELA CL E G H5970251636ORPHA02759955164014
HP:0002460HP:0009063Progressive distal muscle weakness1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002460HP:0003810Late-onset distal muscle weakness1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002460HP:0009053Distal lower limb muscle weakness1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002460HP:0003392First dorsal interossei muscle weakness1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002460HP:0008959Distal upper limb muscle weakness1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002460HP:0009053Distal lower limb muscle weakness1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002460HP:0003392First dorsal interossei muscle weakness1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002460HP:0002601Paresis of extensor muscles of the big toe1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002460HP:0008959Distal upper limb muscle weakness1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002460HP:0009063Progressive distal muscle weakness1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002460HP:0003810Late-onset distal muscle weakness1VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002460HP:0008963Tibialis muscle weakness2ALG14 CL E G H199857353327ORPHA014428287612866
HP:0002460HP:0011727Peroneal muscle weakness2ALG14 CL E G H199857353327ORPHA014428287612866
HP:0002460HP:0011727Peroneal muscle weakness2ALG2 CL E G H85365353327ORPHA033523159607905
HP:0002460HP:0008963Tibialis muscle weakness2ALG2 CL E G H85365353327ORPHA033523159607905
HP:0002460HP:0008963Tibialis muscle weakness2C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002460HP:0011727Peroneal muscle weakness2C11orf95 CL E G H65998251636ORPHA028449615699
HP:0002460HP:0008963Tibialis muscle weakness2DPAGT1 CL E G H1798353327ORPHA03122995191350
HP:0002460HP:0011727Peroneal muscle weakness2DPAGT1 CL E G H1798353327ORPHA03122995191350
HP:0002460HP:0008963Tibialis muscle weakness2ELOVL5 CL E G H60481423296ORPHA010521308611805
HP:0002460HP:0011727Peroneal muscle weakness2ELOVL5 CL E G H60481423296ORPHA010521308611805
HP:0002460HP:0008963Tibialis muscle weakness2FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM04543602604580
HP:0002460HP:0011727Peroneal muscle weakness2FBLN5 CL E G H10516608895Age-related macular degeneration 3608895C1837187OMIM04543602604580
HP:0002460HP:0008963Tibialis muscle weakness2GFPT1 CL E G H2673353327ORPHA05244241138292
HP:0002460HP:0011727Peroneal muscle weakness2GFPT1 CL E G H2673353327ORPHA05244241138292
HP:0002460HP:0008963Tibialis muscle weakness2GMPPB CL E G H29925353327ORPHA036422932615320
HP:0002460HP:0011727Peroneal muscle weakness2GMPPB CL E G H29925353327ORPHA036422932615320
HP:0002460HP:0008963Tibialis muscle weakness2GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0002460HP:0011727Peroneal muscle weakness2GRIA3 CL E G H2892300699Mental retardation, X-linked, syndromic, wu type300699C2678051OMIM05604573305915
HP:0002460HP:0008963Tibialis muscle weakness2GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM02734699603942
HP:0002460HP:0011727Peroneal muscle weakness2GYG1 CL E G H2992616199Polyglucosan body myopathy 2616199C4015452OMIM02734699603942
HP:0002460HP:0008963Tibialis muscle weakness2MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM011617572160740
HP:0002460HP:0011727Peroneal muscle weakness2MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM011617572160740
HP:0002460HP:0008963Tibialis muscle weakness2RELA CL E G H5970251636ORPHA02759955164014
HP:0002460HP:0011727Peroneal muscle weakness2RELA CL E G H5970251636ORPHA02759955164014
HP:0002460HP:0008963Tibialis muscle weakness2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002460HP:0011727Peroneal muscle weakness2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01556445608465
HP:0002460HP:0008963Tibialis muscle weakness2VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704
HP:0002460HP:0011727Peroneal muscle weakness2VAPB CL E G H9217608627Amyotrophic lateral sclerosis type 8608627C1837728OMIM035912649605704


Genes (146) :AARS ABCA1 ACTA1 AFG3L2 AGRN AIFM1 ALG14 ALG2 ANG ANO5 ATL1 ATP6 ATP7A ATXN3 BICD2 BIN1 BSCL2 C11ORF95 C12ORF65 C19ORF12 C19orf12 C9ORF72 C9orf72 CAV3 CHAT CHCHD10 COL13A1 COL6A1 COL6A2 COL6A3 COLQ CPT1C CRYAB DCAF8 DCTN1 DES DGUOK DHH DNM2 DPAGT1 DYNC1H1 DYSF EGR2 ELOVL5 FBLN5 FGD4 FIG4 FLVCR1 FUS GAN GARS GCH1 GDAP1 GFPT1 GJB1 GMPPB GNE GRIA3 GTPBP2 GYG1 HADHA HADHB HARS HINT1 HK1 HNRNPA1 HNRNPA2B1 HSPB1 HSPB3 HSPB8 IBA57 IGHMBP2 INF2 JPH1 KIF1B KLHL9 LAMB2 LDB3 LITAF LMNA LRSAM1 MAP3K20 MATR3 MED25 MFN2 MME MPV17 MPZ MTMR2 MYH14 MYH2 MYH7 MYO9A MYOT NAGA NDRG1 NEB NEFL PABPN1 PLEC PLEKHG5 PMP22 PNPLA2 PNPLA6 POLG PRPS1 PRX PTRH2 RAB7A REEP1 RELA RRM2B RYR1 SACS SBF2 SCYL1 SETX SH3TC2 SIGMAR1 SLC18A3 SLC25A1 SLC5A7 SNAP25 SOX10 SPG11 SPTLC1 SPTLC2 SQSTM1 SYT2 TARDBP TBK1 TCAP TDP1 TIA1 TK2 TNPO3 TPM3 TRPV4 TTN TYMP VAMP1 VAPB VCP VPS13A VPS13D YARS

Diseases (170) :613287 31150 97240 313772 101078 353327 611895 613319 300489 276244 363454 255200 600794 251636 320370 614298 275872 158810 255600 98915 608810 610100 607641 601419 617070 168563 606482 614228 254130 606768 607678 605253 145900 423296 608895 611228 609033 643 256850 99944 607831 607706 214400 302800 605820 300699 617988 616199 605285 52430 606595 608673 604320 614455 118210 601098 605588 614436 617760 600 606070 605589 609260 601152 256810 607791 607677 607736 118200 180800 601382 614369 605637 59135 160500 266 182920 609242 601455 607684 607734 617882 164300 615376 611067 101081 118300 118220 275400 258450 603041 298 311070 616263 600882 614751 270550 604563 357043 602433 606002 601596 605726 158580 609136 602099 162400 613640 616040 604454 254875 606071 600175 608807 608627 329478 435387 607317 608323 161800 98914 399096 206549 100984 320360 139536 270685 488650 457050 444099 399058 609311 601472 98808 363623 746 488333 324442 608634 613376 158590 468661 399081 609452 99947 497764 397744 98911 609200 399103 256030 254361 98916 98908 612020 178145 466794 601954 94124 608423 609284 181405 609 2388 320375 178400 602 181350 437572 178464
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.