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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Proximal muscle weakness (HP:0003701)help
Term ID: 3701
Name: Proximal muscle weakness
Synonym: Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Proximal neurogenic muscle weakness; Weakness in muscles of upper arms and upper legs
Definition: A lack of strength of the proximal muscles.
Comments:
Reference: HP:0003701
Genes and Diseases:
 
       Child Nodes:
........expandGowers sign (HP:0003391) help
........expandLate-onset proximal muscle weakness (HP:0003694) help
........expandProximal muscle weakness in lower limbs (HP:0008994) help
................... HP:0003731 Quadriceps muscle weakness
........expandProximal muscle weakness in upper limbs (HP:0008997) help
................... HP:0031108 Triceps weakness
........expandProgressive proximal muscle weakness (HP:0009073) help

 Sister Nodes: 
..expandAbdominal wall muscle weakness (HP:0009023) help
..expandAnkle weakness (HP:0031374) help
..expandAxial muscle weakness (HP:0003327) help
..expandBulbar palsy (HP:0001283) help
..expandCold paresis (HP:0031372) help
..expandDiaphragmatic weakness (HP:0009113) help
..expandDistal muscle weakness (HP:0002460) help
..expandFacial palsy (HP:0010628) help
..expandFatigable weakness (HP:0003473) help
..expandGeneralized muscle weakness (HP:0003324) help
..expandIntercostal muscle weakness (HP:0004878) help
..expandLimb 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
..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:0003701HP:0003701Proximal muscle weakness0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0003701HP:0003701Proximal muscle weakness0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0003701HP:0003701Proximal muscle weakness0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0003701HP:0003701Proximal muscle weakness0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0003701HP:0003701Proximal muscle weakness0AGRN CL E G H37579098914ORPHA11579329103320
HP:0003701HP:0003701Proximal muscle weakness0AGRN CL E G H37579098914ORPHA11309329103320
HP:0003701HP:0003701Proximal muscle weakness0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11579329103320
HP:0003701HP:0003701Proximal muscle weakness0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11309329103320
HP:0003701HP:0003701Proximal muscle weakness0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003701HP:0003701Proximal muscle weakness0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003701HP:0003701Proximal muscle weakness0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0003701HP:0003701Proximal muscle weakness0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0003701HP:0003701Proximal muscle weakness0BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003701HP:0003701Proximal muscle weakness0C9orf72 CL E G H203228275872ORPHA116528337614260
HP:0003701HP:0003701Proximal muscle weakness0C9orf72 CL E G H203228275872ORPHA116128337614260
HP:0003701HP:0003701Proximal muscle weakness0CAPN3 CL E G H825267ORPHA111421480114240
HP:0003701HP:0003701Proximal muscle weakness0CAPN3 CL E G H825267ORPHA110471480114240
HP:0003701HP:0003701Proximal muscle weakness0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003701HP:0003701Proximal muscle weakness0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003701HP:0003701Proximal muscle weakness0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003701HP:0003701Proximal muscle weakness0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003701HP:0003701Proximal muscle weakness0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003701HP:0003701Proximal muscle weakness0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003701HP:0003701Proximal muscle weakness0CHAT CL E G H110398914ORPHA16521912118490
HP:0003701HP:0003701Proximal muscle weakness0CHAT CL E G H110398914ORPHA15111912118490
HP:0003701HP:0003701Proximal muscle weakness0CHCHD10 CL E G H400916275872ORPHA123015559615903
HP:0003701HP:0003701Proximal muscle weakness0CHCHD10 CL E G H400916275872ORPHA120515559615903
HP:0003701HP:0003701Proximal muscle weakness0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0003701HP:0003701Proximal muscle weakness0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0003701HP:0003701Proximal muscle weakness0COL13A1 CL E G H130598914ORPHA12942190120350
HP:0003701HP:0003701Proximal muscle weakness0COL13A1 CL E G H130598914ORPHA11792190120350
HP:0003701HP:0003701Proximal muscle weakness0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113422211120220
HP:0003701HP:0003701Proximal muscle weakness0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM112192211120220
HP:0003701HP:0003701Proximal muscle weakness0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0003701HP:0003701Proximal muscle weakness0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM115122212120240
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM113702212120240
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM115122212120240
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM113702212120240
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0003701HP:0003701Proximal muscle weakness0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM122332213120250
HP:0003701HP:0003701Proximal muscle weakness0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM119712213120250
HP:0003701HP:0003701Proximal muscle weakness0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0003701HP:0003701Proximal muscle weakness0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0003701HP:0003701Proximal muscle weakness0COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM17032219120270
HP:0003701HP:0003701Proximal muscle weakness0COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM14642219120270
HP:0003701HP:0003701Proximal muscle weakness0COLQ CL E G H829298915ORPHA14182226603033
HP:0003701HP:0003701Proximal muscle weakness0COLQ CL E G H829298915ORPHA13642226603033
HP:0003701HP:0003701Proximal muscle weakness0COQ8A CL E G H56997139485ORPHA143516812606980
HP:0003701HP:0003701Proximal muscle weakness0COQ8A CL E G H56997139485ORPHA136716812606980
HP:0003701HP:0003701Proximal muscle weakness0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0003701HP:0003701Proximal muscle weakness0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0003701HP:0003701Proximal muscle weakness0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM111618540608846
HP:0003701HP:0003701Proximal muscle weakness0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM19918540608846
HP:0003701HP:0003701Proximal muscle weakness0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11562858601465
HP:0003701HP:0003701Proximal muscle weakness0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11402858601465
HP:0003701HP:0003701Proximal muscle weakness0DMD CL E G H175698896ORPHA163952928300377
HP:0003701HP:0003701Proximal muscle weakness0DMD CL E G H175698896ORPHA156012928300377
HP:0003701HP:0003701Proximal muscle weakness0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0003701HP:0003701Proximal muscle weakness0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0003701HP:0003701Proximal muscle weakness0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12332995191350
HP:0003701HP:0003701Proximal muscle weakness0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM11992995191350
HP:0003701HP:0003701Proximal muscle weakness0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003701HP:0003701Proximal muscle weakness0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14863702300163
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14373702300163
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14863702300163
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14373702300163
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H7914734515ORPHA167117997606596
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H7914734515ORPHA157217997606596
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003701HP:0003701Proximal muscle weakness0FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM16793622607440
HP:0003701HP:0003701Proximal muscle weakness0FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM15993622607440
HP:0003701HP:0003701Proximal muscle weakness0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM110124671610595
HP:0003701HP:0003701Proximal muscle weakness0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM17524671610595
HP:0003701HP:0003701Proximal muscle weakness0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM128343756102565
HP:0003701HP:0003701Proximal muscle weakness0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM123763756102565
HP:0003701HP:0003701Proximal muscle weakness0FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM128343756102565
HP:0003701HP:0003701Proximal muscle weakness0FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM123763756102565
HP:0003701HP:0003701Proximal muscle weakness0FUS CL E G H2521275872ORPHA13394010137070
HP:0003701HP:0003701Proximal muscle weakness0FUS CL E G H2521275872ORPHA13234010137070
HP:0003701HP:0003701Proximal muscle weakness0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM117844065606800
HP:0003701HP:0003701Proximal muscle weakness0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM115924065606800
HP:0003701HP:0003701Proximal muscle weakness0GAN CL E G H8139643ORPHA15944137605379
HP:0003701HP:0003701Proximal muscle weakness0GAN CL E G H8139643ORPHA15334137605379
HP:0003701HP:0003701Proximal muscle weakness0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15944137605379
HP:0003701HP:0003701Proximal muscle weakness0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM15334137605379
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H5433299944ORPHA144415968606598
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H5433299944ORPHA142315968606598
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM144415968606598
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM142315968606598
HP:0003701HP:0003701Proximal muscle weakness0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM123422932615320
HP:0003701HP:0003701Proximal muscle weakness0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM120322932615320
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA1 CL E G H317852430ORPHA1605031164017
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA1 CL E G H317852430ORPHA1595031164017
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA1 CL E G H3178615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3615424C3809469OMIM1605031164017
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA1 CL E G H3178615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3615424C3809469OMIM1595031164017
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA2B1 CL E G H318152430ORPHA11555033600124
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA2B1 CL E G H318152430ORPHA11265033600124
HP:0003701HP:0003701Proximal muscle weakness0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13814201605266
HP:0003701HP:0003701Proximal muscle weakness0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM13714201605266
HP:0003701HP:0003701Proximal muscle weakness0LAMB2 CL E G H391398915ORPHA16006487150325
HP:0003701HP:0003701Proximal muscle weakness0LAMB2 CL E G H391398915ORPHA14706487150325
HP:0003701HP:0003701Proximal muscle weakness0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17266501309060
HP:0003701HP:0003701Proximal muscle weakness0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM16726501309060
HP:0003701HP:0003701Proximal muscle weakness0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15976511603590
HP:0003701HP:0003701Proximal muscle weakness0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM15166511603590
HP:0003701HP:0003701Proximal muscle weakness0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM114866636150330
HP:0003701HP:0003701Proximal muscle weakness0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM113476636150330
HP:0003701HP:0003701Proximal muscle weakness0LTBP4 CL E G H842598896ORPHA14746717604710
HP:0003701HP:0003701Proximal muscle weakness0LTBP4 CL E G H842598896ORPHA14056717604710
HP:0003701HP:0003701Proximal muscle weakness0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM116217797609479
HP:0003701HP:0003701Proximal muscle weakness0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM17617797609479
HP:0003701HP:0003701Proximal muscle weakness0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM194416877608507
HP:0003701HP:0003701Proximal muscle weakness0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM182416877608507
HP:0003701HP:0003701Proximal muscle weakness0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM194416877608507
HP:0003701HP:0003701Proximal muscle weakness0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM182416877608507
HP:0003701HP:0003701Proximal muscle weakness0MICU1 CL E G H10367401768ORPHA11351530605084
HP:0003701HP:0003701Proximal muscle weakness0MICU1 CL E G H10367401768ORPHA11011530605084
HP:0003701HP:0003701Proximal muscle weakness0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0003701HP:0003701Proximal muscle weakness0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0003701HP:0003701Proximal muscle weakness0MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003701HP:0003701Proximal muscle weakness0MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0003701HP:0003701Proximal muscle weakness0MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM12357413156540
HP:0003701HP:0003701Proximal muscle weakness0MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14107450603557
HP:0003701HP:0003701Proximal muscle weakness0MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM13597450603557
HP:0003701HP:0003701Proximal muscle weakness0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM18017572160740
HP:0003701HP:0003701Proximal muscle weakness0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM16477572160740
HP:0003701HP:0003701Proximal muscle weakness0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM132927577160760
HP:0003701HP:0003701Proximal muscle weakness0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM129607577160760
HP:0003701HP:0003701Proximal muscle weakness0MYO9A CL E G H464998914ORPHA11687608604875
HP:0003701HP:0003701Proximal muscle weakness0MYO9A CL E G H464998914ORPHA11647608604875
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H9499266ORPHA126712399604103
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H9499266ORPHA124612399604103
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM126712399604103
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM124612399604103
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM126712399604103
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM124612399604103
HP:0003701HP:0003701Proximal muscle weakness0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM118126274612803
HP:0003701HP:0003701Proximal muscle weakness0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM116326274612803
HP:0003701HP:0003701Proximal muscle weakness0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM153137720161650
HP:0003701HP:0003701Proximal muscle weakness0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM146747720161650
HP:0003701HP:0003701Proximal muscle weakness0OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM14328091613349
HP:0003701HP:0003701Proximal muscle weakness0OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM13658091613349
HP:0003701HP:0003701Proximal muscle weakness0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM122825896610277
HP:0003701HP:0003701Proximal muscle weakness0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM116225896610277
HP:0003701HP:0003701Proximal muscle weakness0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1618565602279
HP:0003701HP:0003701Proximal muscle weakness0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM183229105611101
HP:0003701HP:0003701Proximal muscle weakness0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM174129105611101
HP:0003701HP:0003701Proximal muscle weakness0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM139130802609059
HP:0003701HP:0003701Proximal muscle weakness0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM133430802609059
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H542870595ORPHA117129179174763
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H542870595ORPHA114709179174763
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM117129179174763
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM114709179174763
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM117129179174763
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM114709179174763
HP:0003701HP:0003701Proximal muscle weakness0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM169119743607439
HP:0003701HP:0003701Proximal muscle weakness0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM160419743607439
HP:0003701HP:0003701Proximal muscle weakness0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM169119743607439
HP:0003701HP:0003701Proximal muscle weakness0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM160419743607439
HP:0003701HP:0003701Proximal muscle weakness0PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0003701HP:0003701Proximal muscle weakness0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM131215864610924
HP:0003701HP:0003701Proximal muscle weakness0RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM126315864610924
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H6261424107ORPHA1460410483180901
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H626198905ORPHA1460410483180901
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H6261424107ORPHA1410110483180901
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H626198905ORPHA1410110483180901
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1460410483180901
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1410110483180901
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1460410483180901
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1410110483180901
HP:0003701HP:0003701Proximal muscle weakness0SDHA CL E G H63893208ORPHA1177810680600857
HP:0003701HP:0003701Proximal muscle weakness0SDHA CL E G H63893208ORPHA1154510680600857
HP:0003701HP:0003701Proximal muscle weakness0SDHAF1 CL E G H6440963208ORPHA15433867612848
HP:0003701HP:0003701Proximal muscle weakness0SDHAF1 CL E G H6440963208ORPHA14633867612848
HP:0003701HP:0003701Proximal muscle weakness0SDHB CL E G H63903208ORPHA192610681185470
HP:0003701HP:0003701Proximal muscle weakness0SDHB CL E G H63903208ORPHA182410681185470
HP:0003701HP:0003701Proximal muscle weakness0SDHD CL E G H63923208ORPHA150710683602690
HP:0003701HP:0003701Proximal muscle weakness0SDHD CL E G H63923208ORPHA144210683602690
HP:0003701HP:0003701Proximal muscle weakness0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM150515999606210
HP:0003701HP:0003701Proximal muscle weakness0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM145415999606210
HP:0003701HP:0003701Proximal muscle weakness0SLC18A3 CL E G H657298914ORPHA116510936600336
HP:0003701HP:0003701Proximal muscle weakness0SLC18A3 CL E G H657298914ORPHA110210936600336
HP:0003701HP:0003701Proximal muscle weakness0SLC25A1 CL E G H657698914ORPHA149810979190315
HP:0003701HP:0003701Proximal muscle weakness0SLC25A1 CL E G H657698914ORPHA147010979190315
HP:0003701HP:0003701Proximal muscle weakness0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM136316187613350
HP:0003701HP:0003701Proximal muscle weakness0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM131416187613350
HP:0003701HP:0003701Proximal muscle weakness0SLC5A7 CL E G H6048298914ORPHA131514025608761
HP:0003701HP:0003701Proximal muscle weakness0SLC5A7 CL E G H6048298914ORPHA125914025608761
HP:0003701HP:0003701Proximal muscle weakness0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM131514025608761
HP:0003701HP:0003701Proximal muscle weakness0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM125914025608761
HP:0003701HP:0003701Proximal muscle weakness0SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120311117600354
HP:0003701HP:0003701Proximal muscle weakness0SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120111117600354
HP:0003701HP:0003701Proximal muscle weakness0SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120311117600354
HP:0003701HP:0003701Proximal muscle weakness0SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120111117600354
HP:0003701HP:0003701Proximal muscle weakness0SNAP25 CL E G H661698914ORPHA114811132600322
HP:0003701HP:0003701Proximal muscle weakness0SNAP25 CL E G H661698914ORPHA112711132600322
HP:0003701HP:0003701Proximal muscle weakness0SQSTM1 CL E G H8878275872ORPHA147311280601530
HP:0003701HP:0003701Proximal muscle weakness0SQSTM1 CL E G H8878275872ORPHA138311280601530
HP:0003701HP:0003701Proximal muscle weakness0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM145211386605921
HP:0003701HP:0003701Proximal muscle weakness0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM137911386605921
HP:0003701HP:0003701Proximal muscle weakness0STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM145211386605921
HP:0003701HP:0003701Proximal muscle weakness0STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM137911386605921
HP:0003701HP:0003701Proximal muscle weakness0SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1417017089608441
HP:0003701HP:0003701Proximal muscle weakness0SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1364117089608441
HP:0003701HP:0003701Proximal muscle weakness0SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1222217084608442
HP:0003701HP:0003701Proximal muscle weakness0SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1187517084608442
HP:0003701HP:0003701Proximal muscle weakness0SYT2 CL E G H12783398914ORPHA112311510600104
HP:0003701HP:0003701Proximal muscle weakness0SYT2 CL E G H12783398914ORPHA17911510600104
HP:0003701HP:0003701Proximal muscle weakness0TARDBP CL E G H23435275872ORPHA122511571605078
HP:0003701HP:0003701Proximal muscle weakness0TARDBP CL E G H23435275872ORPHA121411571605078
HP:0003701HP:0003701Proximal muscle weakness0TBK1 CL E G H29110275872ORPHA126911584604834
HP:0003701HP:0003701Proximal muscle weakness0TBK1 CL E G H29110275872ORPHA120611584604834
HP:0003701HP:0003701Proximal muscle weakness0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM126311758602498
HP:0003701HP:0003701Proximal muscle weakness0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM123711758602498
HP:0003701HP:0003701Proximal muscle weakness0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM129911831188250
HP:0003701HP:0003701Proximal muscle weakness0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM123011831188250
HP:0003701HP:0003701Proximal muscle weakness0TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM165328472612048
HP:0003701HP:0003701Proximal muscle weakness0TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM158528472612048
HP:0003701HP:0003701Proximal muscle weakness0TNXB CL E G H7148230839ORPHA175211976600985
HP:0003701HP:0003701Proximal muscle weakness0TNXB CL E G H7148230839ORPHA173911976600985
HP:0003701HP:0003701Proximal muscle weakness0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM116711992601243
HP:0003701HP:0003701Proximal muscle weakness0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM114511992601243
HP:0003701HP:0003701Proximal muscle weakness0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM124212011190990
HP:0003701HP:0003701Proximal muscle weakness0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM123412011190990
HP:0003701HP:0003701Proximal muscle weakness0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128312012191030
HP:0003701HP:0003701Proximal muscle weakness0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM126112012191030
HP:0003701HP:0003701Proximal muscle weakness0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM128312012191030
HP:0003701HP:0003701Proximal muscle weakness0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM126112012191030
HP:0003701HP:0003701Proximal muscle weakness0TRAPPC11 CL E G H60684369840ORPHA167325751614138
HP:0003701HP:0003701Proximal muscle weakness0TRAPPC11 CL E G H60684369840ORPHA157325751614138
HP:0003701HP:0003701Proximal muscle weakness0TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM174212261603283
HP:0003701HP:0003701Proximal muscle weakness0TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM161912261603283
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H7273603689Hereditary myopathy with early respiratory failure603689C1863599OMIM11902812403188840
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H7273603689Hereditary myopathy with early respiratory failure603689C1863599OMIM11798412403188840
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM11902812403188840
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM11798412403188840
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H5665270595ORPHA12701160606075
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H5665270595ORPHA12341160606075
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM12701160606075
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM12341160606075
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM12701160606075
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM12341160606075
HP:0003701HP:0003701Proximal muscle weakness0VAMP1 CL E G H684398914ORPHA19912642185880
HP:0003701HP:0003701Proximal muscle weakness0VAMP1 CL E G H684398914ORPHA18312642185880
HP:0003701HP:0003701Proximal muscle weakness0VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM129012649605704
HP:0003701HP:0003701Proximal muscle weakness0VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM127512649605704
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H7415275872ORPHA139512666601023
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H741552430ORPHA139512666601023
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H7415275872ORPHA135612666601023
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H741552430ORPHA135612666601023
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM139512666601023
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM135612666601023
HP:0003701HP:0003391Gowers sign1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0003701HP:0003391Gowers sign1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0003701HP:0009073Progressive proximal muscle weakness1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0003701HP:0003694Late-onset proximal muscle weakness1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1362129102610
HP:0003701HP:0003694Late-onset proximal muscle weakness1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0003701HP:0009073Progressive proximal muscle weakness1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1325129102610
HP:0003701HP:0003391Gowers sign1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0003701HP:0003391Gowers sign1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0003701HP:0009073Progressive proximal muscle weakness1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0003701HP:0003694Late-onset proximal muscle weakness1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1362129102610
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0003701HP:0009073Progressive proximal muscle weakness1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0003701HP:0003694Late-onset proximal muscle weakness1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1325129102610
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1AGRN CL E G H37579098914ORPHA11579329103320
HP:0003701HP:0009073Progressive proximal muscle weakness1AGRN CL E G H37579098914ORPHA11579329103320
HP:0003701HP:0003694Late-onset proximal muscle weakness1AGRN CL E G H37579098914ORPHA11579329103320
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1AGRN CL E G H37579098914ORPHA11579329103320
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1AGRN CL E G H37579098914ORPHA11309329103320
HP:0003701HP:0009073Progressive proximal muscle weakness1AGRN CL E G H37579098914ORPHA11309329103320
HP:0003701HP:0003694Late-onset proximal muscle weakness1AGRN CL E G H37579098914ORPHA11309329103320
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1AGRN CL E G H37579098914ORPHA11309329103320
HP:0003701HP:0003391Gowers sign1AGRN CL E G H37579098914ORPHA11579329103320
HP:0003701HP:0003391Gowers sign1AGRN CL E G H37579098914ORPHA11309329103320
HP:0003701HP:0003694Late-onset proximal muscle weakness1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11309329103320
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11309329103320
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11309329103320
HP:0003701HP:0009073Progressive proximal muscle weakness1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11309329103320
HP:0003701HP:0003391Gowers sign1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11579329103320
HP:0003701HP:0003391Gowers sign1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11309329103320
HP:0003701HP:0009073Progressive proximal muscle weakness1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11579329103320
HP:0003701HP:0003694Late-onset proximal muscle weakness1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11579329103320
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11579329103320
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11579329103320
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003701HP:0009073Progressive proximal muscle weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003701HP:0003694Late-onset proximal muscle weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003701HP:0003391Gowers sign1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003701HP:0003391Gowers sign1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM178627337608662
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003701HP:0009073Progressive proximal muscle weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003701HP:0003694Late-onset proximal muscle weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM190027337608662
HP:0003701HP:0003391Gowers sign1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0003701HP:0003391Gowers sign1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0003701HP:0009073Progressive proximal muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0003701HP:0003694Late-onset proximal muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14871052601248
HP:0003701HP:0009073Progressive proximal muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0003701HP:0003694Late-onset proximal muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM14311052601248
HP:0003701HP:0003391Gowers sign1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003701HP:0009073Progressive proximal muscle weakness1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003701HP:0003694Late-onset proximal muscle weakness1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1661152604577
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1C9orf72 CL E G H203228275872ORPHA116528337614260
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1C9orf72 CL E G H203228275872ORPHA116528337614260
HP:0003701HP:0009073Progressive proximal muscle weakness1C9orf72 CL E G H203228275872ORPHA116528337614260
HP:0003701HP:0003694Late-onset proximal muscle weakness1C9orf72 CL E G H203228275872ORPHA116528337614260
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1C9orf72 CL E G H203228275872ORPHA116128337614260
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1C9orf72 CL E G H203228275872ORPHA116128337614260
HP:0003701HP:0009073Progressive proximal muscle weakness1C9orf72 CL E G H203228275872ORPHA116128337614260
HP:0003701HP:0003694Late-onset proximal muscle weakness1C9orf72 CL E G H203228275872ORPHA116128337614260
HP:0003701HP:0003391Gowers sign1C9orf72 CL E G H203228275872ORPHA116528337614260
HP:0003701HP:0003391Gowers sign1C9orf72 CL E G H203228275872ORPHA116128337614260
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003701HP:0009073Progressive proximal muscle weakness1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003701HP:0003694Late-onset proximal muscle weakness1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003701HP:0009073Progressive proximal muscle weakness1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003701HP:0003694Late-onset proximal muscle weakness1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003701HP:0003391Gowers sign1CAPN3 CL E G H825267ORPHA111421480114240
HP:0003701HP:0003391Gowers sign1CAPN3 CL E G H825267ORPHA110471480114240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003701HP:0009073Progressive proximal muscle weakness1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003701HP:0003694Late-onset proximal muscle weakness1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003701HP:0009073Progressive proximal muscle weakness1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003701HP:0003694Late-onset proximal muscle weakness1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003701HP:0003391Gowers sign1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM111421480114240
HP:0003701HP:0003391Gowers sign1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM110471480114240
HP:0003701HP:0003694Late-onset proximal muscle weakness1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003701HP:0009073Progressive proximal muscle weakness1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003701HP:0003694Late-onset proximal muscle weakness1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003701HP:0003391Gowers sign1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003701HP:0003391Gowers sign1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1471512114250
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003701HP:0009073Progressive proximal muscle weakness1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM1951512114250
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003701HP:0009073Progressive proximal muscle weakness1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003701HP:0003694Late-onset proximal muscle weakness1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003701HP:0003391Gowers sign1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003701HP:0003391Gowers sign1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003701HP:0009073Progressive proximal muscle weakness1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003701HP:0003694Late-onset proximal muscle weakness1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0003701HP:0009073Progressive proximal muscle weakness1CHAT CL E G H110398914ORPHA16521912118490
HP:0003701HP:0003694Late-onset proximal muscle weakness1CHAT CL E G H110398914ORPHA16521912118490
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHAT CL E G H110398914ORPHA16521912118490
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CHAT CL E G H110398914ORPHA16521912118490
HP:0003701HP:0009073Progressive proximal muscle weakness1CHAT CL E G H110398914ORPHA15111912118490
HP:0003701HP:0003694Late-onset proximal muscle weakness1CHAT CL E G H110398914ORPHA15111912118490
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHAT CL E G H110398914ORPHA15111912118490
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CHAT CL E G H110398914ORPHA15111912118490
HP:0003701HP:0003391Gowers sign1CHAT CL E G H110398914ORPHA16521912118490
HP:0003701HP:0003391Gowers sign1CHAT CL E G H110398914ORPHA15111912118490
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHCHD10 CL E G H400916275872ORPHA123015559615903
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CHCHD10 CL E G H400916275872ORPHA123015559615903
HP:0003701HP:0009073Progressive proximal muscle weakness1CHCHD10 CL E G H400916275872ORPHA123015559615903
HP:0003701HP:0003694Late-onset proximal muscle weakness1CHCHD10 CL E G H400916275872ORPHA123015559615903
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHCHD10 CL E G H400916275872ORPHA120515559615903
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CHCHD10 CL E G H400916275872ORPHA120515559615903
HP:0003701HP:0009073Progressive proximal muscle weakness1CHCHD10 CL E G H400916275872ORPHA120515559615903
HP:0003701HP:0003694Late-onset proximal muscle weakness1CHCHD10 CL E G H400916275872ORPHA120515559615903
HP:0003701HP:0003391Gowers sign1CHCHD10 CL E G H400916275872ORPHA123015559615903
HP:0003701HP:0003391Gowers sign1CHCHD10 CL E G H400916275872ORPHA120515559615903
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0003701HP:0009073Progressive proximal muscle weakness1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0003701HP:0003694Late-onset proximal muscle weakness1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0003701HP:0003391Gowers sign1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0003701HP:0003391Gowers sign1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11613164116955
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0003701HP:0009073Progressive proximal muscle weakness1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0003701HP:0003694Late-onset proximal muscle weakness1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11713164116955
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL13A1 CL E G H130598914ORPHA12942190120350
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL13A1 CL E G H130598914ORPHA12942190120350
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL13A1 CL E G H130598914ORPHA12942190120350
HP:0003701HP:0009073Progressive proximal muscle weakness1COL13A1 CL E G H130598914ORPHA12942190120350
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL13A1 CL E G H130598914ORPHA11792190120350
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL13A1 CL E G H130598914ORPHA11792190120350
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL13A1 CL E G H130598914ORPHA11792190120350
HP:0003701HP:0009073Progressive proximal muscle weakness1COL13A1 CL E G H130598914ORPHA11792190120350
HP:0003701HP:0003391Gowers sign1COL13A1 CL E G H130598914ORPHA12942190120350
HP:0003701HP:0003391Gowers sign1COL13A1 CL E G H130598914ORPHA11792190120350
HP:0003701HP:0003391Gowers sign1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113422211120220
HP:0003701HP:0003391Gowers sign1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM112192211120220
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113422211120220
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113422211120220
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113422211120220
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113422211120220
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM112192211120220
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM112192211120220
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM112192211120220
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM112192211120220
HP:0003701HP:0003391Gowers sign1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0003701HP:0003391Gowers sign1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113422211120220
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM112192211120220
HP:0003701HP:0003391Gowers sign1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM115122212120240
HP:0003701HP:0003391Gowers sign1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM113702212120240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM115122212120240
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM115122212120240
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM115122212120240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM115122212120240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM113702212120240
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM113702212120240
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM113702212120240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM113702212120240
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM113702212120240
HP:0003701HP:0003391Gowers sign1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM115122212120240
HP:0003701HP:0003391Gowers sign1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM113702212120240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM115122212120240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM115122212120240
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM115122212120240
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM115122212120240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM113702212120240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM113702212120240
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM113702212120240
HP:0003701HP:0003391Gowers sign1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0003701HP:0003391Gowers sign1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM115122212120240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113702212120240
HP:0003701HP:0003391Gowers sign1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM122332213120250
HP:0003701HP:0003391Gowers sign1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM119712213120250
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM122332213120250
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM122332213120250
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM122332213120250
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM122332213120250
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM119712213120250
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM119712213120250
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM119712213120250
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM119712213120250
HP:0003701HP:0003391Gowers sign1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0003701HP:0003391Gowers sign1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM122332213120250
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119712213120250
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM14642219120270
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM14642219120270
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM14642219120270
HP:0003701HP:0009073Progressive proximal muscle weakness1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM14642219120270
HP:0003701HP:0003391Gowers sign1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM17032219120270
HP:0003701HP:0003391Gowers sign1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM14642219120270
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM17032219120270
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM17032219120270
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM17032219120270
HP:0003701HP:0009073Progressive proximal muscle weakness1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM17032219120270
HP:0003701HP:0003694Late-onset proximal muscle weakness1COLQ CL E G H829298915ORPHA14182226603033
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COLQ CL E G H829298915ORPHA14182226603033
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COLQ CL E G H829298915ORPHA14182226603033
HP:0003701HP:0009073Progressive proximal muscle weakness1COLQ CL E G H829298915ORPHA14182226603033
HP:0003701HP:0003694Late-onset proximal muscle weakness1COLQ CL E G H829298915ORPHA13642226603033
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COLQ CL E G H829298915ORPHA13642226603033
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COLQ CL E G H829298915ORPHA13642226603033
HP:0003701HP:0009073Progressive proximal muscle weakness1COLQ CL E G H829298915ORPHA13642226603033
HP:0003701HP:0003391Gowers sign1COLQ CL E G H829298915ORPHA14182226603033
HP:0003701HP:0003391Gowers sign1COLQ CL E G H829298915ORPHA13642226603033
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COQ8A CL E G H56997139485ORPHA143516812606980
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COQ8A CL E G H56997139485ORPHA143516812606980
HP:0003701HP:0009073Progressive proximal muscle weakness1COQ8A CL E G H56997139485ORPHA143516812606980
HP:0003701HP:0003694Late-onset proximal muscle weakness1COQ8A CL E G H56997139485ORPHA143516812606980
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COQ8A CL E G H56997139485ORPHA136716812606980
HP:0003701HP:0009073Progressive proximal muscle weakness1COQ8A CL E G H56997139485ORPHA136716812606980
HP:0003701HP:0003694Late-onset proximal muscle weakness1COQ8A CL E G H56997139485ORPHA136716812606980
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COQ8A CL E G H56997139485ORPHA136716812606980
HP:0003701HP:0003391Gowers sign1COQ8A CL E G H56997139485ORPHA143516812606980
HP:0003701HP:0003391Gowers sign1COQ8A CL E G H56997139485ORPHA136716812606980
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0003701HP:0009073Progressive proximal muscle weakness1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0003701HP:0003694Late-onset proximal muscle weakness1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0003701HP:0003391Gowers sign1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0003701HP:0003391Gowers sign1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0003701HP:0009073Progressive proximal muscle weakness1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0003701HP:0003694Late-onset proximal muscle weakness1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM111618540608846
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM111618540608846
HP:0003701HP:0009073Progressive proximal muscle weakness1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM111618540608846
HP:0003701HP:0003694Late-onset proximal muscle weakness1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM111618540608846
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM19918540608846
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM19918540608846
HP:0003701HP:0009073Progressive proximal muscle weakness1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM19918540608846
HP:0003701HP:0003694Late-onset proximal muscle weakness1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM19918540608846
HP:0003701HP:0003391Gowers sign1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM111618540608846
HP:0003701HP:0003391Gowers sign1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM19918540608846
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11562858601465
HP:0003701HP:0009073Progressive proximal muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11562858601465
HP:0003701HP:0003694Late-onset proximal muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11562858601465
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11562858601465
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11402858601465
HP:0003701HP:0009073Progressive proximal muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11402858601465
HP:0003701HP:0003694Late-onset proximal muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11402858601465
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11402858601465
HP:0003701HP:0003391Gowers sign1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11562858601465
HP:0003701HP:0003391Gowers sign1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11402858601465
HP:0003701HP:0003694Late-onset proximal muscle weakness1DMD CL E G H175698896ORPHA163952928300377
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DMD CL E G H175698896ORPHA163952928300377
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DMD CL E G H175698896ORPHA163952928300377
HP:0003701HP:0009073Progressive proximal muscle weakness1DMD CL E G H175698896ORPHA163952928300377
HP:0003701HP:0003694Late-onset proximal muscle weakness1DMD CL E G H175698896ORPHA156012928300377
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DMD CL E G H175698896ORPHA156012928300377
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DMD CL E G H175698896ORPHA156012928300377
HP:0003701HP:0009073Progressive proximal muscle weakness1DMD CL E G H175698896ORPHA156012928300377
HP:0003701HP:0003391Gowers sign1DMD CL E G H175698896ORPHA163952928300377
HP:0003701HP:0003391Gowers sign1DMD CL E G H175698896ORPHA156012928300377
HP:0003701HP:0003391Gowers sign1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0003701HP:0003391Gowers sign1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0003701HP:0009073Progressive proximal muscle weakness1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0003701HP:0003694Late-onset proximal muscle weakness1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM17662974602378
HP:0003701HP:0009073Progressive proximal muscle weakness1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0003701HP:0003694Late-onset proximal muscle weakness1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM16752974602378
HP:0003701HP:0009073Progressive proximal muscle weakness1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM11992995191350
HP:0003701HP:0003694Late-onset proximal muscle weakness1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM11992995191350
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM11992995191350
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM11992995191350
HP:0003701HP:0003391Gowers sign1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12332995191350
HP:0003701HP:0003391Gowers sign1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM11992995191350
HP:0003701HP:0009073Progressive proximal muscle weakness1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12332995191350
HP:0003701HP:0003694Late-onset proximal muscle weakness1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12332995191350
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12332995191350
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12332995191350
HP:0003701HP:0003391Gowers sign1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003701HP:0003391Gowers sign1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003701HP:0003694Late-onset proximal muscle weakness1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003701HP:0009073Progressive proximal muscle weakness1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM123583097603009
HP:0003701HP:0003694Late-onset proximal muscle weakness1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003701HP:0009073Progressive proximal muscle weakness1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM121293097603009
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14373702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM14863702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14373702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM14863702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14373702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14373702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14373702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14373702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14863702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14373702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14863702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14863702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14863702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM14863702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14373702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14373702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14373702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14373702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14863702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14373702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14863702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14863702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14863702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM14863702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003701HP:0009073Progressive proximal muscle weakness1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003701HP:0009073Progressive proximal muscle weakness1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003701HP:0003391Gowers sign1FKRP CL E G H7914734515ORPHA167117997606596
HP:0003701HP:0003391Gowers sign1FKRP CL E G H7914734515ORPHA157217997606596
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003701HP:0009073Progressive proximal muscle weakness1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003701HP:0003391Gowers sign1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003701HP:0003391Gowers sign1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003701HP:0009073Progressive proximal muscle weakness1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003701HP:0009073Progressive proximal muscle weakness1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003701HP:0003391Gowers sign1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003701HP:0003391Gowers sign1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM157217997606596
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003701HP:0009073Progressive proximal muscle weakness1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM167117997606596
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM15993622607440
HP:0003701HP:0009073Progressive proximal muscle weakness1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM15993622607440
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM15993622607440
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM15993622607440
HP:0003701HP:0003391Gowers sign1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM16793622607440
HP:0003701HP:0003391Gowers sign1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM15993622607440
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM16793622607440
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM16793622607440
HP:0003701HP:0009073Progressive proximal muscle weakness1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM16793622607440
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM16793622607440
HP:0003701HP:0003391Gowers sign1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM110124671610595
HP:0003701HP:0003391Gowers sign1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM17524671610595
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM110124671610595
HP:0003701HP:0009073Progressive proximal muscle weakness1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM110124671610595
HP:0003701HP:0003694Late-onset proximal muscle weakness1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM110124671610595
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM110124671610595
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM17524671610595
HP:0003701HP:0009073Progressive proximal muscle weakness1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM17524671610595
HP:0003701HP:0003694Late-onset proximal muscle weakness1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM17524671610595
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM17524671610595
HP:0003701HP:0003694Late-onset proximal muscle weakness1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM123763756102565
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM123763756102565
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM123763756102565
HP:0003701HP:0009073Progressive proximal muscle weakness1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM123763756102565
HP:0003701HP:0003391Gowers sign1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM128343756102565
HP:0003701HP:0003391Gowers sign1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM123763756102565
HP:0003701HP:0003694Late-onset proximal muscle weakness1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM128343756102565
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM128343756102565
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM128343756102565
HP:0003701HP:0009073Progressive proximal muscle weakness1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM128343756102565
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM123763756102565
HP:0003701HP:0009073Progressive proximal muscle weakness1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM123763756102565
HP:0003701HP:0003694Late-onset proximal muscle weakness1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM123763756102565
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM123763756102565
HP:0003701HP:0003391Gowers sign1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM128343756102565
HP:0003701HP:0003391Gowers sign1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM123763756102565
HP:0003701HP:0008997