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 disproportion255310C0546264OMIM1392129102610
HP:0003701HP:0003701Proximal muscle weakness0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0003701HP:0003701Proximal muscle weakness0AGRN CL E G H37579098914ORPHA11782329103320
HP:0003701HP:0003701Proximal muscle weakness0AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0003701HP:0003701Proximal muscle weakness0ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0003701HP:0003701Proximal muscle weakness0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0003701HP:0003701Proximal muscle weakness0BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1741152604577
HP:0003701HP:0003701Proximal muscle weakness0C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0003701HP:0003701Proximal muscle weakness0CAPN3 CL E G H825267ORPHA112881480114240
HP:0003701HP:0003701Proximal muscle weakness0CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM112881480114240
HP:0003701HP:0003701Proximal muscle weakness0CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM11661512114250
HP:0003701HP:0003701Proximal muscle weakness0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003701HP:0003701Proximal muscle weakness0CHAT CL E G H110398914ORPHA17711912118490
HP:0003701HP:0003701Proximal muscle weakness0CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0003701HP:0003701Proximal muscle weakness0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11813164116955
HP:0003701HP:0003701Proximal muscle weakness0COL13A1 CL E G H130598914ORPHA13972190120350
HP:0003701HP:0003701Proximal muscle weakness0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM114702211120220
HP:0003701HP:0003701Proximal muscle weakness0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM116442212120240
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0003701HP:0003701Proximal muscle weakness0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM124142213120250
HP:0003701HP:0003701Proximal muscle weakness0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0003701HP:0003701Proximal muscle weakness0COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM19072219120270
HP:0003701HP:0003701Proximal muscle weakness0COLQ CL E G H829298915ORPHA14652226603033
HP:0003701HP:0003701Proximal muscle weakness0COQ8A CL E G H56997139485ORPHA150416812606980
HP:0003701HP:0003701Proximal muscle weakness0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM150416812606980
HP:0003701HP:0003701Proximal muscle weakness0CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM113318540608846
HP:0003701HP:0003701Proximal muscle weakness0DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0003701HP:0003701Proximal muscle weakness0DMD CL E G H175698896ORPHA173702928300377
HP:0003701HP:0003701Proximal muscle weakness0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0003701HP:0003701Proximal muscle weakness0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12582995191350
HP:0003701HP:0003701Proximal muscle weakness0DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM127363097603009
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15173702300163
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H7914734515ORPHA178717997606596
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0003701HP:0003701Proximal muscle weakness0FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM17833622607440
HP:0003701HP:0003701Proximal muscle weakness0FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM112124671610595
HP:0003701HP:0003701Proximal muscle weakness0FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0003701HP:0003701Proximal muscle weakness0FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM134553756102565
HP:0003701HP:0003701Proximal muscle weakness0FUS CL E G H2521275872ORPHA14094010137070
HP:0003701HP:0003701Proximal muscle weakness0GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0003701HP:0003701Proximal muscle weakness0GAN CL E G H8139643ORPHA16614137605379
HP:0003701HP:0003701Proximal muscle weakness0GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H5433299944ORPHA147715968606598
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003701HP:0003701Proximal muscle weakness0GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM127322932615320
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA1 CL E G H317852430ORPHA1615031164017
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA1 CL E G H3178615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3615424C3809469OMIM1615031164017
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA2B1 CL E G H318152430ORPHA12045033600124
HP:0003701HP:0003701Proximal muscle weakness0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003701HP:0003701Proximal muscle weakness0LAMB2 CL E G H391398915ORPHA16776487150325
HP:0003701HP:0003701Proximal muscle weakness0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17596501309060
HP:0003701HP:0003701Proximal muscle weakness0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0003701HP:0003701Proximal muscle weakness0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003701HP:0003701Proximal muscle weakness0LTBP4 CL E G H842598896ORPHA15406717604710
HP:0003701HP:0003701Proximal muscle weakness0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM124317797609479
HP:0003701HP:0003701Proximal muscle weakness0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0003701HP:0003701Proximal muscle weakness0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003701HP:0003701Proximal muscle weakness0MICU1 CL E G H10367401768ORPHA11661530605084
HP:0003701HP:0003701Proximal muscle weakness0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM158523573616661
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 histiocytoma112250C1862177OMIM12397413156540
HP:0003701HP:0003701Proximal muscle weakness0MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003701HP:0003701Proximal muscle weakness0MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM19147572160740
HP:0003701HP:0003701Proximal muscle weakness0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0003701HP:0003701Proximal muscle weakness0MYO9A CL E G H464998914ORPHA11727608604875
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H9499266ORPHA129512399604103
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM129512399604103
HP:0003701HP:0003701Proximal muscle weakness0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0003701HP:0003701Proximal muscle weakness0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0003701HP:0003701Proximal muscle weakness0OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM14968091613349
HP:0003701HP:0003701Proximal muscle weakness0ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM125525896610277
HP:0003701HP:0003701Proximal muscle weakness0PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003701HP:0003701Proximal muscle weakness0PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003701HP:0003701Proximal muscle weakness0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H542870595ORPHA119179179174763
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0003701HP:0003701Proximal muscle weakness0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0003701HP:0003701Proximal muscle weakness0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
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 immunodeficiency615895C4014605OMIM136415864610924
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H626198905ORPHA1506210483180901
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H6261424107ORPHA1506210483180901
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0003701HP:0003701Proximal muscle weakness0SDHA CL E G H63893208ORPHA1218610680600857
HP:0003701HP:0003701Proximal muscle weakness0SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003701HP:0003701Proximal muscle weakness0SDHB CL E G H63903208ORPHA1109910681185470
HP:0003701HP:0003701Proximal muscle weakness0SDHD CL E G H63923208ORPHA160710683602690
HP:0003701HP:0003701Proximal muscle weakness0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0003701HP:0003701Proximal muscle weakness0SLC18A3 CL E G H657298914ORPHA121510936600336
HP:0003701HP:0003701Proximal muscle weakness0SLC25A1 CL E G H657698914ORPHA150510979190315
HP:0003701HP:0003701Proximal muscle weakness0SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0003701HP:0003701Proximal muscle weakness0SLC5A7 CL E G H6048298914ORPHA137514025608761
HP:0003701HP:0003701Proximal muscle weakness0SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0003701HP:0003701Proximal muscle weakness0SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120811117600354
HP:0003701HP:0003701Proximal muscle weakness0SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0003701HP:0003701Proximal muscle weakness0SNAP25 CL E G H661698914ORPHA119111132600322
HP:0003701HP:0003701Proximal muscle weakness0SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0003701HP:0003701Proximal muscle weakness0STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0003701HP:0003701Proximal muscle weakness0STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM152211386605921
HP:0003701HP:0003701Proximal muscle weakness0SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1459817089608441
HP:0003701HP:0003701Proximal muscle weakness0SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1249717084608442
HP:0003701HP:0003701Proximal muscle weakness0SYT2 CL E G H12783398914ORPHA116011510600104
HP:0003701HP:0003701Proximal muscle weakness0TARDBP CL E G H23435275872ORPHA125911571605078
HP:0003701HP:0003701Proximal muscle weakness0TBK1 CL E G H29110275872ORPHA129411584604834
HP:0003701HP:0003701Proximal muscle weakness0TFG CL E G H10342604484Neuropathy, hereditary motor and sensory, Okinawa type604484C1858338OMIM130711758602498
HP:0003701HP:0003701Proximal muscle weakness0TK2 CL E G H7084617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3617069C4310734OMIM135611831188250
HP:0003701HP:0003701Proximal muscle weakness0TMEM43 CL E G H79188614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant614302C3553060OMIM174028472612048
HP:0003701HP:0003701Proximal muscle weakness0TNXB CL E G H7148230839ORPHA1168811976600985
HP:0003701HP:0003701Proximal muscle weakness0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM119911992601243
HP:0003701HP:0003701Proximal muscle weakness0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM128012011190990
HP:0003701HP:0003701Proximal muscle weakness0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM130012012191030
HP:0003701HP:0003701Proximal muscle weakness0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM130012012191030
HP:0003701HP:0003701Proximal muscle weakness0TRAPPC11 CL E G H60684369840ORPHA177425751614138
HP:0003701HP:0003701Proximal muscle weakness0TRDN CL E G H10345615441Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441C3809536OMIM194212261603283
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H7273603689Hereditary myopathy with early respiratory failure603689C1863599OMIM12285912403188840
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H7273608807Limb-girdle muscular dystrophy, type 2J608807C1837342OMIM12285912403188840
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H5665270595ORPHA13081160606075
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM13081160606075
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H56652607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM13081160606075
HP:0003701HP:0003701Proximal muscle weakness0VAMP1 CL E G H684398914ORPHA111812642185880
HP:0003701HP:0003701Proximal muscle weakness0VAPB CL E G H9217182980Adult proximal spinal muscular atrophy, autosomal dominant182980C1866777OMIM131912649605704
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H741552430ORPHA147312666601023
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H7415275872ORPHA147312666601023
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H7415167320Inclusion body myopathy with early-onset paget disease and frontotemporal dementia167320C1833662OMIM147312666601023
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0003701HP:0003694Late-onset proximal muscle weakness1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0003701HP:0003391Gowers sign1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0003701HP:0009073Progressive proximal muscle weakness1ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1392129102610
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0003701HP:0003694Late-onset proximal muscle weakness1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0003701HP:0003391Gowers sign1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0003701HP:0009073Progressive proximal muscle weakness1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1392129102610
HP:0003701HP:0003391Gowers sign1AGRN CL E G H37579098914ORPHA11782329103320
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1AGRN CL E G H37579098914ORPHA11782329103320
HP:0003701HP:0009073Progressive proximal muscle weakness1AGRN CL E G H37579098914ORPHA11782329103320
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1AGRN CL E G H37579098914ORPHA11782329103320
HP:0003701HP:0003694Late-onset proximal muscle weakness1AGRN CL E G H37579098914ORPHA11782329103320
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0003701HP:0009073Progressive proximal muscle weakness1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0003701HP:0003694Late-onset proximal muscle weakness1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0003701HP:0003391Gowers sign1AGRN CL E G H375790615120Myasthenic syndrome, congenital, 8615120C3808739OMIM11782329103320
HP:0003701HP:0009073Progressive proximal muscle weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0003701HP:0003694Late-onset proximal muscle weakness1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0003701HP:0003391Gowers sign1ANO5 CL E G H203859611307Limb-girdle muscular dystrophy, type 2L611307C1969785OMIM197227337608662
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0003701HP:0003694Late-onset proximal muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0003701HP:0003391Gowers sign1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0003701HP:0009073Progressive proximal muscle weakness1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM15521052601248
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1741152604577
HP:0003701HP:0009073Progressive proximal muscle weakness1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1741152604577
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1741152604577
HP:0003701HP:0003694Late-onset proximal muscle weakness1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1741152604577
HP:0003701HP:0003391Gowers sign1BVES CL E G H11149616812Muscular dystrophy, limb-girdle, type 2X616812C4225199OMIM1741152604577
HP:0003701HP:0003391Gowers sign1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0003701HP:0009073Progressive proximal muscle weakness1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0003701HP:0003694Late-onset proximal muscle weakness1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1C9orf72 CL E G H203228275872ORPHA117328337614260
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CAPN3 CL E G H825267ORPHA112881480114240
HP:0003701HP:0009073Progressive proximal muscle weakness1CAPN3 CL E G H825267ORPHA112881480114240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CAPN3 CL E G H825267ORPHA112881480114240
HP:0003701HP:0003694Late-onset proximal muscle weakness1CAPN3 CL E G H825267ORPHA112881480114240
HP:0003701HP:0003391Gowers sign1CAPN3 CL E G H825267ORPHA112881480114240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM112881480114240
HP:0003701HP:0009073Progressive proximal muscle weakness1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM112881480114240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM112881480114240
HP:0003701HP:0003694Late-onset proximal muscle weakness1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM112881480114240
HP:0003701HP:0003391Gowers sign1CAPN3 CL E G H825618129MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4618129CN253839OMIM112881480114240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM11661512114250
HP:0003701HP:0009073Progressive proximal muscle weakness1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM11661512114250
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM11661512114250
HP:0003701HP:0003694Late-onset proximal muscle weakness1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM11661512114250
HP:0003701HP:0003391Gowers sign1CASQ1 CL E G H844616231Myopathy, vacuolar, with casq1 aggregates616231C4015624OMIM11661512114250
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003701HP:0009073Progressive proximal muscle weakness1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003701HP:0003694Late-onset proximal muscle weakness1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003701HP:0003391Gowers sign1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0003701HP:0003391Gowers sign1CHAT CL E G H110398914ORPHA17711912118490
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHAT CL E G H110398914ORPHA17711912118490
HP:0003701HP:0009073Progressive proximal muscle weakness1CHAT CL E G H110398914ORPHA17711912118490
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CHAT CL E G H110398914ORPHA17711912118490
HP:0003701HP:0003694Late-onset proximal muscle weakness1CHAT CL E G H110398914ORPHA17711912118490
HP:0003701HP:0003391Gowers sign1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0003701HP:0009073Progressive proximal muscle weakness1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0003701HP:0003694Late-onset proximal muscle weakness1CHCHD10 CL E G H400916275872ORPHA124815559615903
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11813164116955
HP:0003701HP:0003694Late-onset proximal muscle weakness1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11813164116955
HP:0003701HP:0003391Gowers sign1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11813164116955
HP:0003701HP:0009073Progressive proximal muscle weakness1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11813164116955
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM11813164116955
HP:0003701HP:0003391Gowers sign1COL13A1 CL E G H130598914ORPHA13972190120350
HP:0003701HP:0009073Progressive proximal muscle weakness1COL13A1 CL E G H130598914ORPHA13972190120350
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL13A1 CL E G H130598914ORPHA13972190120350
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL13A1 CL E G H130598914ORPHA13972190120350
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL13A1 CL E G H130598914ORPHA13972190120350
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM114702211120220
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM114702211120220
HP:0003701HP:0003391Gowers sign1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM114702211120220
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM114702211120220
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM114702211120220
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0003701HP:0003391Gowers sign1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114702211120220
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM116442212120240
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM116442212120240
HP:0003701HP:0003391Gowers sign1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM116442212120240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM116442212120240
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM116442212120240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0003701HP:0003391Gowers sign1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H1292255600Myosclerosis, autosomal recessive255600C1850671OMIM116442212120240
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0003701HP:0003391Gowers sign1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM116442212120240
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM124142213120250
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM124142213120250
HP:0003701HP:0003391Gowers sign1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM124142213120250
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM124142213120250
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM124142213120250
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0003701HP:0003391Gowers sign1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM124142213120250
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM19072219120270
HP:0003701HP:0003694Late-onset proximal muscle weakness1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM19072219120270
HP:0003701HP:0003391Gowers sign1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM19072219120270
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM19072219120270
HP:0003701HP:0009073Progressive proximal muscle weakness1COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM19072219120270
HP:0003701HP:0003391Gowers sign1COLQ CL E G H829298915ORPHA14652226603033
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COLQ CL E G H829298915ORPHA14652226603033
HP:0003701HP:0009073Progressive proximal muscle weakness1COLQ CL E G H829298915ORPHA14652226603033
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COLQ CL E G H829298915ORPHA14652226603033
HP:0003701HP:0003694Late-onset proximal muscle weakness1COLQ CL E G H829298915ORPHA14652226603033
HP:0003701HP:0003391Gowers sign1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0003701HP:0009073Progressive proximal muscle weakness1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0003701HP:0003694Late-onset proximal muscle weakness1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0003701HP:0009073Progressive proximal muscle weakness1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM150416812606980
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM150416812606980
HP:0003701HP:0003694Late-onset proximal muscle weakness1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM150416812606980
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM150416812606980
HP:0003701HP:0003391Gowers sign1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM150416812606980
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM113318540608846
HP:0003701HP:0009073Progressive proximal muscle weakness1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM113318540608846
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM113318540608846
HP:0003701HP:0003694Late-onset proximal muscle weakness1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM113318540608846
HP:0003701HP:0003391Gowers sign1CPT1C CL E G H126129616282Spastic paraplegia 73, autosomal dominant616282C4225387OMIM113318540608846
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0003701HP:0009073Progressive proximal muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0003701HP:0003694Late-onset proximal muscle weakness1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0003701HP:0003391Gowers sign1DGUOK CL E G H1716617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4617070C4310733OMIM11672858601465
HP:0003701HP:0003391Gowers sign1DMD CL E G H175698896ORPHA173702928300377
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DMD CL E G H175698896ORPHA173702928300377
HP:0003701HP:0009073Progressive proximal muscle weakness1DMD CL E G H175698896ORPHA173702928300377
HP:0003701HP:0003694Late-onset proximal muscle weakness1DMD CL E G H175698896ORPHA173702928300377
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DMD CL E G H175698896ORPHA173702928300377
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0003701HP:0003694Late-onset proximal muscle weakness1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0003701HP:0003391Gowers sign1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0003701HP:0009073Progressive proximal muscle weakness1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM18852974602378
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12582995191350
HP:0003701HP:0009073Progressive proximal muscle weakness1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12582995191350
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12582995191350
HP:0003701HP:0003694Late-onset proximal muscle weakness1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12582995191350
HP:0003701HP:0003391Gowers sign1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM12582995191350
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM127363097603009
HP:0003701HP:0003694Late-onset proximal muscle weakness1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM127363097603009
HP:0003701HP:0003391Gowers sign1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM127363097603009
HP:0003701HP:0009073Progressive proximal muscle weakness1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM127363097603009
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DYSF CL E G H8291253601Limb-girdle muscular dystrophy, type 2B253601C1850889OMIM127363097603009
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15173702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15173702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15173702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15173702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15173702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300718Myopathy, reducing body, X-linked, childhood-onset300718C2678015OMIM15173702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300717Myopathy, reducing body, X-linked, early-onset, severe300717C2678027OMIM15173702300163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0003701HP:0003694Late-onset proximal muscle weakness1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0003701HP:0003391Gowers sign1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0003701HP:0009073Progressive proximal muscle weakness1FHL1 CL E G H2273300695Scapuloperoneal myopathy, X-linked dominant300695C2678061OMIM15173702300163
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKRP CL E G H7914734515ORPHA178717997606596
HP:0003701HP:0009073Progressive proximal muscle weakness1FKRP CL E G H7914734515ORPHA178717997606596
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKRP CL E G H7914734515ORPHA178717997606596
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKRP CL E G H7914734515ORPHA178717997606596
HP:0003701HP:0003391Gowers sign1FKRP CL E G H7914734515ORPHA178717997606596
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0003701HP:0003391Gowers sign1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0003701HP:0009073Progressive proximal muscle weakness1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0003701HP:0003391Gowers sign1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0003701HP:0009073Progressive proximal muscle weakness1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKRP CL E G H79147607155Limb-girdle muscular dystrophy-dystroglycanopathy, type C5607155C1846672OMIM178717997606596
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM17833622607440
HP:0003701HP:0009073Progressive proximal muscle weakness1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM17833622607440
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM17833622607440
HP:0003701HP:0003694Late-onset proximal muscle weakness1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM17833622607440
HP:0003701HP:0003391Gowers sign1FKTN CL E G H2218611615Dilated cardiomyopathy 1X611615C1969024OMIM17833622607440
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM112124671610595
HP:0003701HP:0003694Late-onset proximal muscle weakness1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM112124671610595
HP:0003701HP:0003391Gowers sign1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM112124671610595
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM112124671610595
HP:0003701HP:0009073Progressive proximal muscle weakness1FLAD1 CL E G H80308255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency255100C4310822OMIM112124671610595
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0003701HP:0009073Progressive proximal muscle weakness1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0003701HP:0003694Late-onset proximal muscle weakness1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0003701HP:0003391Gowers sign1FLNC CL E G H2318609524Myofibrillar myopathy, filamin C-related609524C1836050OMIM134553756102565
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM134553756102565
HP:0003701HP:0009073Progressive proximal muscle weakness1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM134553756102565
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM134553756102565
HP:0003701HP:0003694Late-onset proximal muscle weakness1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM134553756102565
HP:0003701HP:0003391Gowers sign1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM134553756102565
HP:0003701HP:0003391Gowers sign1FUS CL E G H2521275872ORPHA14094010137070
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FUS CL E G H2521275872ORPHA14094010137070
HP:0003701HP:0009073Progressive proximal muscle weakness1FUS CL E G H2521275872ORPHA14094010137070
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FUS CL E G H2521275872ORPHA14094010137070
HP:0003701HP:0003694Late-onset proximal muscle weakness1FUS CL E G H2521275872ORPHA14094010137070
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0003701HP:0003694Late-onset proximal muscle weakness1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0003701HP:0003391Gowers sign1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0003701HP:0009073Progressive proximal muscle weakness1GAA CL E G H2548232300Glycogen storage disease, type II232300C0017921OMIM120684065606800
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1GAN CL E G H8139643ORPHA16614137605379
HP:0003701HP:0009073Progressive proximal muscle weakness1GAN CL E G H8139643ORPHA16614137605379
HP:0003701HP:0003694Late-onset proximal muscle weakness1GAN CL E G H8139643ORPHA16614137605379
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1GAN CL E G H8139643ORPHA16614137605379
HP:0003701HP:0003391Gowers sign1GAN CL E G H8139643ORPHA16614137605379
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003701HP:0003694Late-onset proximal muscle weakness1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003701HP:0003391Gowers sign1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003701HP:0009073Progressive proximal muscle weakness1GAN CL E G H8139256850Giant axonal neuropathy256850C1850386OMIM16614137605379
HP:0003701HP:0003391Gowers sign1GDAP1 CL E G H5433299944ORPHA147715968606598
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1GDAP1 CL E G H5433299944ORPHA147715968606598
HP:0003701HP:0009073Progressive proximal muscle weakness1GDAP1 CL E G H5433299944ORPHA147715968606598
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1GDAP1 CL E G H5433299944ORPHA147715968606598
HP:0003701HP:0003694Late-onset proximal muscle weakness1GDAP1 CL E G H5433299944ORPHA147715968606598
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003701HP:0003694Late-onset proximal muscle weakness1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003701HP:0003391Gowers sign1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003701HP:0009073Progressive proximal muscle weakness1GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM147715968606598
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM127322932615320
HP:0003701HP:0009073Progressive proximal muscle weakness1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM127322932615320
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM127322932615320
HP:0003701HP:0003694Late-onset proximal muscle weakness1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM127322932615320
HP:0003701HP:0003391Gowers sign1GMPPB CL E G H29925615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14615352C3714932OMIM127322932615320
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1HNRNPA1 CL E G H317852430ORPHA1615031164017
HP:0003701HP:0009073Progressive proximal muscle weakness1HNRNPA1 CL E G H317852430ORPHA1615031164017
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1HNRNPA1 CL E G H317852430ORPHA1615031164017
HP:0003701HP:0003694Late-onset proximal muscle weakness1HNRNPA1 CL E G H317852430ORPHA1615031164017
HP:0003701HP:0003391Gowers sign1HNRNPA1 CL E G H317852430ORPHA1615031164017
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1HNRNPA1 CL E G H3178615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3615424C3809469OMIM1615031164017
HP:0003701HP:0009073Progressive proximal muscle weakness1HNRNPA1 CL E G H3178615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3615424C3809469OMIM1615031164017
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1HNRNPA1 CL E G H3178615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3615424C3809469OMIM1615031164017
HP:0003701HP:0003694Late-onset proximal muscle weakness1HNRNPA1 CL E G H3178615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3615424C3809469OMIM1615031164017
HP:0003701HP:0003391Gowers sign1HNRNPA1 CL E G H3178615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3615424C3809469OMIM1615031164017
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1HNRNPA2B1 CL E G H318152430ORPHA12045033600124
HP:0003701HP:0009073Progressive proximal muscle weakness1HNRNPA2B1 CL E G H318152430ORPHA12045033600124
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1HNRNPA2B1 CL E G H318152430ORPHA12045033600124
HP:0003701HP:0003694Late-onset proximal muscle weakness1HNRNPA2B1 CL E G H318152430ORPHA12045033600124
HP:0003701HP:0003391Gowers sign1HNRNPA2B1 CL E G H318152430ORPHA12045033600124
HP:0003701HP:0003694Late-onset proximal muscle weakness1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003701HP:0003391Gowers sign1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003701HP:0009073Progressive proximal muscle weakness1JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM14114201605266
HP:0003701HP:0003391Gowers sign1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0003701HP:0009073Progressive proximal muscle weakness1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0003701HP:0003694Late-onset proximal muscle weakness1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1LAMB2 CL E G H391398915ORPHA16776487150325
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17596501309060
HP:0003701HP:0003694Late-onset proximal muscle weakness1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17596501309060
HP:0003701HP:0003391Gowers sign1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17596501309060
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17596501309060
HP:0003701HP:0009073Progressive proximal muscle weakness1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM17596501309060
HP:0003701HP:0009073Progressive proximal muscle weakness1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0003701HP:0003694Late-onset proximal muscle weakness1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0003701HP:0003391Gowers sign1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM16586511603590
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003701HP:0003694Late-onset proximal muscle weakness1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003701HP:0003391Gowers sign1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003701HP:0009073Progressive proximal muscle weakness1LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM116226636150330
HP:0003701HP:0003391Gowers sign1LTBP4 CL E G H842598896ORPHA15406717604710
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LTBP4 CL E G H842598896ORPHA15406717604710
HP:0003701HP:0009073Progressive proximal muscle weakness1LTBP4 CL E G H842598896ORPHA15406717604710
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1LTBP4 CL E G H842598896ORPHA15406717604710
HP:0003701HP:0003694Late-onset proximal muscle weakness1LTBP4 CL E G H842598896ORPHA15406717604710
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM124317797609479
HP:0003701HP:0009073Progressive proximal muscle weakness1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM124317797609479
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM124317797609479
HP:0003701HP:0003694Late-onset proximal muscle weakness1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM124317797609479
HP:0003701HP:0003391Gowers sign1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM124317797609479
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0003701HP:0009073Progressive proximal muscle weakness1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0003701HP:0003694Late-onset proximal muscle weakness1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0003701HP:0003391Gowers sign1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003701HP:0003694Late-onset proximal muscle weakness1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003701HP:0003391Gowers sign1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003701HP:0009073Progressive proximal muscle weakness1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM1106316877608507
HP:0003701HP:0003391Gowers sign1MICU1 CL E G H10367401768ORPHA11661530605084
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MICU1 CL E G H10367401768ORPHA11661530605084
HP:0003701HP:0009073Progressive proximal muscle weakness1MICU1 CL E G H10367401768ORPHA11661530605084
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MICU1 CL E G H10367401768ORPHA11661530605084
HP:0003701HP:0003694Late-onset proximal muscle weakness1MICU1 CL E G H10367401768ORPHA11661530605084
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM158523573616661
HP:0003701HP:0009073Progressive proximal muscle weakness1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM158523573616661
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM158523573616661
HP:0003701HP:0003694Late-onset proximal muscle weakness1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM158523573616661
HP:0003701HP:0003391Gowers sign1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM158523573616661
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003701HP:0009073Progressive proximal muscle weakness1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003701HP:0003694Late-onset proximal muscle weakness1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003701HP:0003391Gowers sign1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0003701HP:0003694Late-onset proximal muscle weakness1MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0003701HP:0003391Gowers sign1MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0003701HP:0009073Progressive proximal muscle weakness1MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM12397413156540
HP:0003701HP:0003694Late-onset proximal muscle weakness1MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM12397413156540
HP:0003701HP:0003391Gowers sign1MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM12397413156540
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM12397413156540
HP:0003701HP:0009073Progressive proximal muscle weakness1MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM12397413156540
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003701HP:0003694Late-onset proximal muscle weakness1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003701HP:0003391Gowers sign1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003701HP:0009073Progressive proximal muscle weakness1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM14607450603557
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM19147572160740
HP:0003701HP:0003694Late-onset proximal muscle weakness1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM19147572160740
HP:0003701HP:0003391Gowers sign1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM19147572160740
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM19147572160740
HP:0003701HP:0009073Progressive proximal muscle weakness1MYH2 CL E G H4620605637Inclusion body myopathy 3605637C1854106OMIM19147572160740
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0003701HP:0003694Late-onset proximal muscle weakness1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0003701HP:0003391Gowers sign1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0003701HP:0009073Progressive proximal muscle weakness1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM136127577160760
HP:0003701HP:0003391Gowers sign1MYO9A CL E G H464998914ORPHA11727608604875
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MYO9A CL E G H464998914ORPHA11727608604875
HP:0003701HP:0009073Progressive proximal muscle weakness1MYO9A CL E G H464998914ORPHA11727608604875
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MYO9A CL E G H464998914ORPHA11727608604875
HP:0003701HP:0003694Late-onset proximal muscle weakness1MYO9A CL E G H464998914ORPHA11727608604875
HP:0003701HP:0009073Progressive proximal muscle weakness1MYOT CL E G H9499266ORPHA129512399604103
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MYOT CL E G H9499266ORPHA129512399604103
HP:0003701HP:0003694Late-onset proximal muscle weakness1MYOT CL E G H9499266ORPHA129512399604103
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MYOT CL E G H9499266ORPHA129512399604103
HP:0003701HP:0003391Gowers sign1MYOT CL E G H9499266ORPHA129512399604103
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003701HP:0009073Progressive proximal muscle weakness1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003701HP:0003694Late-onset proximal muscle weakness1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003701HP:0003391Gowers sign1MYOT CL E G H9499609200Myotilinopathy609200C1836607OMIM129512399604103
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM129512399604103
HP:0003701HP:0003694Late-onset proximal muscle weakness1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM129512399604103
HP:0003701HP:0003391Gowers sign1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM129512399604103
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM129512399604103
HP:0003701HP:0009073Progressive proximal muscle weakness1MYOT CL E G H9499182920Spheroid body myopathy182920C1866785OMIM129512399604103
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0003701HP:0009073Progressive proximal muscle weakness1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0003701HP:0003694Late-onset proximal muscle weakness1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0003701HP:0003391Gowers sign1NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0003701HP:0003694Late-onset proximal muscle weakness1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0003701HP:0003391Gowers sign1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0003701HP:0009073Progressive proximal muscle weakness1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM164447720161650
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM14968091613349
HP:0003701HP:0003694Late-onset proximal muscle weakness1OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM14968091613349
HP:0003701HP:0003391Gowers sign1OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM14968091613349
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM14968091613349
HP:0003701HP:0009073Progressive proximal muscle weakness1OAT CL E G H4942258870Ornithine aminotransferase deficiency258870C0599035OMIM14968091613349
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM125525896610277
HP:0003701HP:0009073Progressive proximal muscle weakness1ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM125525896610277
HP:0003701HP:0003694Late-onset proximal muscle weakness1ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM125525896610277
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM125525896610277
HP:0003701HP:0003391Gowers sign1ORAI1 CL E G H84876615883Myopathy, tubular aggregate, 2615883C4014557OMIM125525896610277
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003701HP:0003694Late-onset proximal muscle weakness1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003701HP:0003391Gowers sign1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003701HP:0009073Progressive proximal muscle weakness1PABPN1 CL E G H8106164300Oculopharyngeal muscular dystrophy164300C0270952OMIM1638565602279
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003701HP:0009073Progressive proximal muscle weakness1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003701HP:0003694Late-onset proximal muscle weakness1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003701HP:0003391Gowers sign1PLEKHG5 CL E G H57449611067Distal spinal muscular atrophy, autosomal recessive 4611067C1970211OMIM193429105611101
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0003701HP:0009073Progressive proximal muscle weakness1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0003701HP:0003694Late-onset proximal muscle weakness1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0003701HP:0003391Gowers sign1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM144330802609059
HP:0003701HP:0009073Progressive proximal muscle weakness1POLG CL E G H542870595ORPHA119179179174763
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1POLG CL E G H542870595ORPHA119179179174763
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1POLG CL E G H542870595ORPHA119179179174763
HP:0003701HP:0003694Late-onset proximal muscle weakness1POLG CL E G H542870595ORPHA119179179174763
HP:0003701HP:0003391Gowers sign1POLG CL E G H542870595ORPHA119179179174763
HP:0003701HP:0003694Late-onset proximal muscle weakness1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0003701HP:0003391Gowers sign1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0003701HP:0009073Progressive proximal muscle weakness1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1POLG CL E G H5428258450Cerebellar ataxia infantile with progressive external ophthalmoplegia258450C1850303OMIM119179179174763
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0003701HP:0003694Late-onset proximal muscle weakness1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0003701HP:0003391Gowers sign1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0003701HP:0009073Progressive proximal muscle weakness1POLG CL E G H5428607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis607459C1843851OMIM119179179174763
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0003701HP:0009073Progressive proximal muscle weakness1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0003701HP:0003694Late-onset proximal muscle weakness1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0003701HP:0003391Gowers sign1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM176619743607439
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003701HP:0009073Progressive proximal muscle weakness1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003701HP:0003694Late-onset proximal muscle weakness1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003701HP:0003391Gowers sign1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM176619743607439
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0003701HP:0009073Progressive proximal muscle weakness1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0003701HP:0003694Late-onset proximal muscle weakness1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0003701HP:0003391Gowers sign1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM136415864610924
HP:0003701HP:0009073Progressive proximal muscle weakness1RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM136415864610924
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM136415864610924
HP:0003701HP:0003694Late-onset proximal muscle weakness1RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM136415864610924
HP:0003701HP:0003391Gowers sign1RBCK1 CL E G H10616615895Polyglucosan body myopathy 1 with or without immunodeficiency615895C4014605OMIM136415864610924
HP:0003701HP:0003391Gowers sign1RYR1 CL E G H6261424107ORPHA1506210483180901
HP:0003701HP:0003391Gowers sign1RYR1 CL E G H626198905ORPHA1506210483180901
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1RYR1 CL E G H6261424107ORPHA1506210483180901
HP:0003701HP:0009073Progressive proximal muscle weakness1RYR1 CL E G H6261424107ORPHA1506210483180901
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1RYR1 CL E G H626198905ORPHA1506210483180901
HP:0003701HP:0009073Progressive proximal muscle weakness1RYR1 CL E G H626198905ORPHA1506210483180901
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1RYR1 CL E G H6261424107ORPHA1506210483180901
HP:0003701HP:0003694Late-onset proximal muscle weakness1RYR1 CL E G H6261424107ORPHA1506210483180901
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1RYR1 CL E G H626198905ORPHA1506210483180901
HP:0003701HP:0003694Late-onset proximal muscle weakness1RYR1 CL E G H626198905ORPHA1506210483180901
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0003701HP:0003694Late-onset proximal muscle weakness1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0003701HP:0003391Gowers sign1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0003701HP:0009073Progressive proximal muscle weakness1RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1506210483180901
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0003701HP:0003694Late-onset proximal muscle weakness1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0003701HP:0003391Gowers sign1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0003701HP:0009073Progressive proximal muscle weakness1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1506210483180901
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SDHA CL E G H63893208ORPHA1218610680600857
HP:0003701HP:0009073Progressive proximal muscle weakness1SDHA CL E G H63893208ORPHA1218610680600857
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SDHA CL E G H63893208ORPHA1218610680600857
HP:0003701HP:0003694Late-onset proximal muscle weakness1SDHA CL E G H63893208ORPHA1218610680600857
HP:0003701HP:0003391Gowers sign1SDHA CL E G H63893208ORPHA1218610680600857
HP:0003701HP:0009073Progressive proximal muscle weakness1SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003701HP:0003694Late-onset proximal muscle weakness1SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003701HP:0003391Gowers sign1SDHAF1 CL E G H6440963208ORPHA16033867612848
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SDHB CL E G H63903208ORPHA1109910681185470
HP:0003701HP:0009073Progressive proximal muscle weakness1SDHB CL E G H63903208ORPHA1109910681185470
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SDHB CL E G H63903208ORPHA1109910681185470
HP:0003701HP:0003694Late-onset proximal muscle weakness1SDHB CL E G H63903208ORPHA1109910681185470
HP:0003701HP:0003391Gowers sign1SDHB CL E G H63903208ORPHA1109910681185470
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SDHD CL E G H63923208ORPHA160710683602690
HP:0003701HP:0009073Progressive proximal muscle weakness1SDHD CL E G H63923208ORPHA160710683602690
HP:0003701HP:0003694Late-onset proximal muscle weakness1SDHD CL E G H63923208ORPHA160710683602690
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SDHD CL E G H63923208ORPHA160710683602690
HP:0003701HP:0003391Gowers sign1SDHD CL E G H63923208ORPHA160710683602690
HP:0003701HP:0003694Late-onset proximal muscle weakness1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0003701HP:0003391Gowers sign1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0003701HP:0009073Progressive proximal muscle weakness1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM153715999606210
HP:0003701HP:0003391Gowers sign1SLC18A3 CL E G H657298914ORPHA121510936600336
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SLC18A3 CL E G H657298914ORPHA121510936600336
HP:0003701HP:0009073Progressive proximal muscle weakness1SLC18A3 CL E G H657298914ORPHA121510936600336
HP:0003701HP:0003694Late-onset proximal muscle weakness1SLC18A3 CL E G H657298914ORPHA121510936600336
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SLC18A3 CL E G H657298914ORPHA121510936600336
HP:0003701HP:0003391Gowers sign1SLC25A1 CL E G H657698914ORPHA150510979190315
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SLC25A1 CL E G H657698914ORPHA150510979190315
HP:0003701HP:0009073Progressive proximal muscle weakness1SLC25A1 CL E G H657698914ORPHA150510979190315
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SLC25A1 CL E G H657698914ORPHA150510979190315
HP:0003701HP:0003694Late-onset proximal muscle weakness1SLC25A1 CL E G H657698914ORPHA150510979190315
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0003701HP:0003694Late-onset proximal muscle weakness1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0003701HP:0003391Gowers sign1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0003701HP:0009073Progressive proximal muscle weakness1SLC52A3 CL E G H113278211530Brown-Vialetto-Van Laere syndrome 1211530CN029849OMIM139916187613350
HP:0003701HP:0003391Gowers sign1SLC5A7 CL E G H6048298914ORPHA137514025608761
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SLC5A7 CL E G H6048298914ORPHA137514025608761
HP:0003701HP:0009073Progressive proximal muscle weakness1SLC5A7 CL E G H6048298914ORPHA137514025608761
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SLC5A7 CL E G H6048298914ORPHA137514025608761
HP:0003701HP:0003694Late-onset proximal muscle weakness1SLC5A7 CL E G H6048298914ORPHA137514025608761
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0003701HP:0009073Progressive proximal muscle weakness1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0003701HP:0003694Late-onset proximal muscle weakness1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0003701HP:0003391Gowers sign1SLC5A7 CL E G H60482617143Myasthenic syndrome, congenital, 20, presynaptic617143C4310694OMIM137514025608761
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120811117600354
HP:0003701HP:0003694Late-onset proximal muscle weakness1SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120811117600354
HP:0003701HP:0003391Gowers sign1SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120811117600354
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120811117600354
HP:0003701HP:0009073Progressive proximal muscle weakness1SMN1 CL E G H6606253400Kugelberg-Welander disease253400C0152109OMIM120811117600354
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0003701HP:0003694Late-onset proximal muscle weakness1SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0003701HP:0003391Gowers sign1SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0003701HP:0009073Progressive proximal muscle weakness1SMN1 CL E G H6606271150Spinal muscular atrophy type 4271150C1838230OMIM120811117600354
HP:0003701HP:0003391Gowers sign1SNAP25 CL E G H661698914ORPHA119111132600322
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SNAP25 CL E G H661698914ORPHA119111132600322
HP:0003701HP:0009073Progressive proximal muscle weakness1SNAP25 CL E G H661698914ORPHA119111132600322
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SNAP25 CL E G H661698914ORPHA119111132600322
HP:0003701HP:0003694Late-onset proximal muscle weakness1SNAP25 CL E G H661698914ORPHA119111132600322
HP:0003701HP:0003391Gowers sign1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0003701HP:0009073Progressive proximal muscle weakness1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0003701HP:0003694Late-onset proximal muscle weakness1SQSTM1 CL E G H8878275872ORPHA154211280601530
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0003701HP:0003694Late-onset proximal muscle weakness1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0003701HP:0003391Gowers sign1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0003701HP:0009073Progressive proximal muscle weakness1STIM1 CL E G H6786160565Myopathy with tubular aggregates160565C0410207OMIM152211386605921
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM152211386605921
HP:0003701HP:0003694Late-onset proximal muscle weakness1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM152211386605921
HP:0003701HP:0003391Gowers sign1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM152211386605921
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM152211386605921
HP:0003701HP:0009073Progressive proximal muscle weakness1STIM1 CL E G H6786185070Stormorken syndrome185070C1861451OMIM152211386605921
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1459817089608441
HP:0003701HP:0009073Progressive proximal muscle weakness1SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1459817089608441
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1459817089608441
HP:0003701HP:0003694Late-onset proximal muscle weakness1SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1459817089608441
HP:0003701HP:0003391Gowers sign1SYNE1 CL E G H23345612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant612998C2751807OMIM1459817089608441
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1249717084608442
HP:0003701HP:0009073Progressive proximal muscle weakness1SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1249717084608442
HP:0003701HP:0003694Late-onset proximal muscle weakness1SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1249717084608442
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1249717084608442
HP:0003701HP:0003391Gowers sign1SYNE2 CL E G H23224612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant612999C2751805OMIM1249717084608442
HP:0003701HP:0003391Gowers sign1SYT2 CL E G H12783398914ORPHA116011510600104
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SYT2 CL E G H12783398914ORPHA116011510600104
HP:0003701HP:0009073Progressive proximal muscle weakness1SYT2 CL E G H12783398914ORPHA116011510600104
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SYT2 CL E G H12783398914