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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003701HP:0003701Proximal muscle weakness0ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosis90
HP:0003701HP:0003701Proximal muscle weakness0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent197
HP:0003701HP:0003701Proximal muscle weakness0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0003701HP:0003701Proximal muscle weakness0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0003701HP:0003701Proximal muscle weakness0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0003701HP:0003701Proximal muscle weakness0ACTA1 CL E G H58129ORPHA:97244Rigid spine syndrome96
HP:0003701HP:0003701Proximal muscle weakness0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0003701HP:0003701Proximal muscle weakness0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0003701HP:0003701Proximal muscle weakness0ACTN2 CL E G H88164OMIM:618655MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6307
HP:0003701HP:0003701Proximal muscle weakness0ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0003701HP:0003701Proximal muscle weakness0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8.127
HP:0003701HP:0003701Proximal muscle weakness0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0003701HP:0003701Proximal muscle weakness0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent127
HP:0003701HP:0003701Proximal muscle weakness0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0003701HP:0003701Proximal muscle weakness0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent12
HP:0003701HP:0003701Proximal muscle weakness0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent46
HP:0003701HP:0003701Proximal muscle weakness0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 1446
HP:0003701HP:0003701Proximal muscle weakness0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0003701HP:0003701Proximal muscle weakness0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0003701HP:0003701Proximal muscle weakness0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12304
HP:0003701HP:0003701Proximal muscle weakness0ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathy304
HP:0003701HP:0003701Proximal muscle weakness0ANO5 CL E G H20385927337OMIM:611307Muscular dystrophy, limb-girdle, type 2L.304
HP:0003701HP:0003701Proximal muscle weakness0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003701HP:0003701Proximal muscle weakness0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0003701HP:0003701Proximal muscle weakness0ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0003701HP:0003701Proximal muscle weakness0ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0003701HP:0003701Proximal muscle weakness0ATP6 CL E G H45087414OMIM:551500Neuropathy, ataxia, and retinitis pigmentosa.
HP:0003701HP:0003701Proximal muscle weakness0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0003701HP:0003701Proximal muscle weakness0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0003701HP:0003701Proximal muscle weakness0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040282 - Frequent46
HP:0003701HP:0003701Proximal muscle weakness0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0003701HP:0003701Proximal muscle weakness0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0003701HP:0003701Proximal muscle weakness0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0003701HP:0003701Proximal muscle weakness0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0003701HP:0003701Proximal muscle weakness0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0003701HP:0003701Proximal muscle weakness0BVES CL E G H111491152OMIM:616812Muscular dystrophy, limb-girdle, autosomal recessive 25.2
HP:0003701HP:0003701Proximal muscle weakness0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent56
HP:0003701HP:0003701Proximal muscle weakness0CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysis247
HP:0003701HP:0003701Proximal muscle weakness0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0003701HP:0003701Proximal muscle weakness0CAPN3 CL E G H8251480ORPHA:267Calpain-3-related limb-girdle muscular dystrophy R1HP:0040282 - Frequent323
HP:0003701HP:0003701Proximal muscle weakness0CAPN3 CL E G H8251480OMIM:618129Muscular dystrophy, limb-girdle, autosomal dominant 4.323
HP:0003701HP:0003701Proximal muscle weakness0CASQ1 CL E G H8441512OMIM:616231Myopathy, vacuolar, with CASQ1 aggregates.5
HP:0003701HP:0003701Proximal muscle weakness0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0003701HP:0003701Proximal muscle weakness0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0003701HP:0003701Proximal muscle weakness0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent65
HP:0003701HP:0003701Proximal muscle weakness0CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intolerance11
HP:0003701HP:0003701Proximal muscle weakness0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2HP:0040283 - Occasional11
HP:0003701HP:0003701Proximal muscle weakness0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent11
HP:0003701HP:0003701Proximal muscle weakness0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onset11
HP:0003701HP:0003701Proximal muscle weakness0CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant11
HP:0003701HP:0003701Proximal muscle weakness0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type53
HP:0003701HP:0003701Proximal muscle weakness0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0003701HP:0003701Proximal muscle weakness0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0003701HP:0003701Proximal muscle weakness0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0003701HP:0003701Proximal muscle weakness0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0003701HP:0003701Proximal muscle weakness0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0003701HP:0003701Proximal muscle weakness0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0003701HP:0003701Proximal muscle weakness0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 2.1
HP:0003701HP:0003701Proximal muscle weakness0COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0003701HP:0003701Proximal muscle weakness0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0003701HP:0003701Proximal muscle weakness0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0003701HP:0003701Proximal muscle weakness0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0003701HP:0003701Proximal muscle weakness0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent6
HP:0003701HP:0003701Proximal muscle weakness0COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0003701HP:0003701Proximal muscle weakness0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0003701HP:0003701Proximal muscle weakness0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H12922212OMIM:255600Myosclerosis, autosomal recessive.478
HP:0003701HP:0003701Proximal muscle weakness0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0003701HP:0003701Proximal muscle weakness0COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0003701HP:0003701Proximal muscle weakness0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0003701HP:0003701Proximal muscle weakness0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0003701HP:0003701Proximal muscle weakness0COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy137
HP:0003701HP:0003701Proximal muscle weakness0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040281 - Very frequent90
HP:0003701HP:0003701Proximal muscle weakness0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040282 - Frequent136
HP:0003701HP:0003701Proximal muscle weakness0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4.136
HP:0003701HP:0003701Proximal muscle weakness0COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003701HP:0003701Proximal muscle weakness0COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003701HP:0003701Proximal muscle weakness0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyria72
HP:0003701HP:0003701Proximal muscle weakness0CPT1C CL E G H12612918540OMIM:616282Spastic paraplegia 73, autosomal dominant.1
HP:0003701HP:0003701Proximal muscle weakness0CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20
HP:0003701HP:0003701Proximal muscle weakness0CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathy46
HP:0003701HP:0003701Proximal muscle weakness0CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm246
HP:0003701HP:0003701Proximal muscle weakness0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16108
HP:0003701HP:0003701Proximal muscle weakness0DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9108
HP:0003701HP:0003701Proximal muscle weakness0DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1263
HP:0003701HP:0003701Proximal muscle weakness0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0003701HP:0003701Proximal muscle weakness0DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent1496
HP:0003701HP:0003701Proximal muscle weakness0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0003701HP:0003701Proximal muscle weakness0DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003701HP:0003701Proximal muscle weakness0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndrome3
HP:0003701HP:0003701Proximal muscle weakness0DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndrome41
HP:0003701HP:0003701Proximal muscle weakness0DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 641
HP:0003701HP:0003701Proximal muscle weakness0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0003701HP:0003701Proximal muscle weakness0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0003701HP:0003701Proximal muscle weakness0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant.167
HP:0003701HP:0003701Proximal muscle weakness0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial91
HP:0003701HP:0003701Proximal muscle weakness0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0003701HP:0003701Proximal muscle weakness0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent38
HP:0003701HP:0003701Proximal muscle weakness0DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0003701HP:0003701Proximal muscle weakness0DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0003701HP:0003701Proximal muscle weakness0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant427
HP:0003701HP:0003701Proximal muscle weakness0DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onset600
HP:0003701HP:0003701Proximal muscle weakness0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2600
HP:0003701HP:0003701Proximal muscle weakness0DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003701HP:0003701Proximal muscle weakness0DYSF CL E G H82913097OMIM:253601Muscular dystrophy, limb-girdle, type 2B.600
HP:0003701HP:0003701Proximal muscle weakness0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas58
HP:0003701HP:0003701Proximal muscle weakness0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0003701HP:0003701Proximal muscle weakness0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset.68
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H22733702OMIM:300717Myopathy, reducing body, X-linked, early-onset, severe.68
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy.68
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H22733702OMIM:300695Scapuloperoneal myopathy, X-linked dominant.68
HP:0003701HP:0003701Proximal muscle weakness0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent157
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040281 - Very frequent157
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0003701HP:0003701Proximal muscle weakness0FKRP CL E G H7914717997OMIM:607155Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5.157
HP:0003701HP:0003701Proximal muscle weakness0FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X.184
HP:0003701HP:0003701Proximal muscle weakness0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4184
HP:0003701HP:0003701Proximal muscle weakness0FLAD1 CL E G H8030824671OMIM:255100Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency.18
HP:0003701HP:0003701Proximal muscle weakness0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0003701HP:0003701Proximal muscle weakness0FLNC CL E G H23183756OMIM:609524Filaminopathy, autosomal dominant.197
HP:0003701HP:0003701Proximal muscle weakness0FLNC CL E G H23183756OMIM:614065Myopathy, distal, 4.197
HP:0003701HP:0003701Proximal muscle weakness0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent105
HP:0003701HP:0003701Proximal muscle weakness0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0003701HP:0003701Proximal muscle weakness0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0003701HP:0003701Proximal muscle weakness0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040282 - Frequent407
HP:0003701HP:0003701Proximal muscle weakness0GAA CL E G H25484065OMIM:232300Glycogen storage disease II.407
HP:0003701HP:0003701Proximal muscle weakness0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0003701HP:0003701Proximal muscle weakness0GAN CL E G H81394137ORPHA:643Giant axonal neuropathyHP:0040281 - Very frequent121
HP:0003701HP:0003701Proximal muscle weakness0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive.121
HP:0003701HP:0003701Proximal muscle weakness0GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 386
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2KHP:0040282 - Frequent108
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H5433215968OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.108
HP:0003701HP:0003701Proximal muscle weakness0GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0003701HP:0003701Proximal muscle weakness0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent128
HP:0003701HP:0003701Proximal muscle weakness0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0003701HP:0003701Proximal muscle weakness0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1128
HP:0003701HP:0003701Proximal muscle weakness0GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathy
HP:0003701HP:0003701Proximal muscle weakness0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent34
HP:0003701HP:0003701Proximal muscle weakness0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent34
HP:0003701HP:0003701Proximal muscle weakness0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R1934
HP:0003701HP:0003701Proximal muscle weakness0GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14.34
HP:0003701HP:0003701Proximal muscle weakness0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0003701HP:0003701Proximal muscle weakness0HACD1 CL E G H92009639OMIM:6199672
HP:0003701HP:0003701Proximal muscle weakness0HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0003701HP:0003701Proximal muscle weakness0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0003701HP:0003701Proximal muscle weakness0HK1 CL E G H30984922ORPHA:99953Charcot-Marie-Tooth disease type 4GHP:0040282 - Frequent11
HP:0003701HP:0003701Proximal muscle weakness0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0003701HP:0003701Proximal muscle weakness0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyria81
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3.31
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent31
HP:0003701HP:0003701Proximal muscle weakness0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent5
HP:0003701HP:0003701Proximal muscle weakness0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003701HP:0003701Proximal muscle weakness0IGHMBP2 CL E G H35085542OMIM:616155Charcot-Marie-Tooth disease, axonal, type 2SHP:0040283 - Occasional209
HP:0003701HP:0003701Proximal muscle weakness0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability7
HP:0003701HP:0003701Proximal muscle weakness0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0003701HP:0003701Proximal muscle weakness0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003701HP:0003701Proximal muscle weakness0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003701HP:0003701Proximal muscle weakness0JPH1 CL E G H5670414201OMIM:607831Charcot-Marie-Tooth disease, axonal, type 2K.1
HP:0003701HP:0003701Proximal muscle weakness0KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysis73
HP:0003701HP:0003701Proximal muscle weakness0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0003701HP:0003701Proximal muscle weakness0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0003701HP:0003701Proximal muscle weakness0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003701HP:0003701Proximal muscle weakness0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040281 - Very frequent92
HP:0003701HP:0003701Proximal muscle weakness0LAMP2 CL E G H39206501OMIM:300257Danon disease.211
HP:0003701HP:0003701Proximal muscle weakness0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0003701HP:0003701Proximal muscle weakness0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0003701HP:0003701Proximal muscle weakness0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4286
HP:0003701HP:0003701Proximal muscle weakness0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0003701HP:0003701Proximal muscle weakness0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 6HP:0040283 - Occasional7
HP:0003701HP:0003701Proximal muscle weakness0LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy645
HP:0003701HP:0003701Proximal muscle weakness0LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophy645
HP:0003701HP:0003701Proximal muscle weakness0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003701HP:0003701Proximal muscle weakness0LMNA CL E G H40006636OMIM:605588Charcot-Marie-Tooth disease, axonal, type 2B1.645
HP:0003701HP:0003701Proximal muscle weakness0LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003701HP:0003701Proximal muscle weakness0LRIF1 CL E G H5579130299OMIM:619477FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0003701HP:0003701Proximal muscle weakness0LRP12 CL E G H2996731708OMIM:164310Oculopharyngodistal myopathy 1
HP:0003701HP:0003701Proximal muscle weakness0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0003701HP:0003701Proximal muscle weakness0LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent92
HP:0003701HP:0003701Proximal muscle weakness0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0003701HP:0003701Proximal muscle weakness0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003701HP:0003701Proximal muscle weakness0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0003701HP:0003701Proximal muscle weakness0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0003701HP:0003701Proximal muscle weakness0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003701HP:0003701Proximal muscle weakness0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0003701HP:0003701Proximal muscle weakness0MLIP CL E G H9052321355OMIM:620138
HP:0003701HP:0003701Proximal muscle weakness0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0003701HP:0003701Proximal muscle weakness0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2Z.8
HP:0003701HP:0003701Proximal muscle weakness0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0003701HP:0003701Proximal muscle weakness0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas134
HP:0003701HP:0003701Proximal muscle weakness0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0003701HP:0003701Proximal muscle weakness0MTAP CL E G H45077413OMIM:112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma.85
HP:0003701HP:0003701Proximal muscle weakness0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0003701HP:0003701Proximal muscle weakness0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant.7
HP:0003701HP:0003701Proximal muscle weakness0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0003701HP:0003701Proximal muscle weakness0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency72
HP:0003701HP:0003701Proximal muscle weakness0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0003701HP:0003701Proximal muscle weakness0MYBPC1 CL E G H46047549OMIM:618524MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM66
HP:0003701HP:0003701Proximal muscle weakness0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0003701HP:0003701Proximal muscle weakness0MYH14 CL E G H7978423212ORPHA:397744Peripheral neuropathy-myopathy-hoarseness-hearing loss syndromeHP:0040283 - Occasional227
HP:0003701HP:0003701Proximal muscle weakness0MYH2 CL E G H46207572OMIM:605637Myopathy, proximal, and ophthalmoplegia.105
HP:0003701HP:0003701Proximal muscle weakness0MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathy1269
HP:0003701HP:0003701Proximal muscle weakness0MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0003701HP:0003701Proximal muscle weakness0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0003701HP:0003701Proximal muscle weakness0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1HP:0040283 - Occasional1269
HP:0003701HP:0003701Proximal muscle weakness0MYH7 CL E G H46257577OMIM:255160Myopathy, myosin storage, autosomal recessive1269
HP:0003701HP:0003701Proximal muscle weakness0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003701HP:0003701Proximal muscle weakness0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome5
HP:0003701HP:0003701Proximal muscle weakness0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H949912399ORPHA:266Autosomal dominant limb-girdle muscular dystrophy type 1AHP:0040281 - Very frequent75
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H949912399ORPHA:98911Distal myotilinopathy75
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H949912399OMIM:182920Myopathy, spheroid body.75
HP:0003701HP:0003701Proximal muscle weakness0MYOT CL E G H949912399OMIM:609200MYOTILINOPATHY.75
HP:0003701HP:0003701Proximal muscle weakness0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0003701HP:0003701Proximal muscle weakness0MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive217
HP:0003701HP:0003701Proximal muscle weakness0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0003701HP:0003701Proximal muscle weakness0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040283 - Occasional82
HP:0003701HP:0003701Proximal muscle weakness0NEB CL E G H47037720ORPHA:399103Distal nebulin myopathy745
HP:0003701HP:0003701Proximal muscle weakness0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0003701HP:0003701Proximal muscle weakness0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CCHP:0040283 - Occasional24
HP:0003701HP:0003701Proximal muscle weakness0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040282 - Frequent118
HP:0003701HP:0003701Proximal muscle weakness0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0003701HP:0003701Proximal muscle weakness0NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate GHP:0040284 - Very rare118
HP:0003701HP:0003701Proximal muscle weakness0NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathy
HP:0003701HP:0003701Proximal muscle weakness0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0003701HP:0003701Proximal muscle weakness0OAT CL E G H49428091OMIM:258870Ornithine aminotransferase deficiency.94
HP:0003701HP:0003701Proximal muscle weakness0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1214
HP:0003701HP:0003701Proximal muscle weakness0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0003701HP:0003701Proximal muscle weakness0ORAI1 CL E G H8487625896OMIM:615883Myopathy, tubular aggregate, 2.19
HP:0003701HP:0003701Proximal muscle weakness0PABPN1 CL E G H81068565OMIM:164300Oculopharyngeal muscular dystrophy.10
HP:0003701HP:0003701Proximal muscle weakness0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0003701HP:0003701Proximal muscle weakness0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0003701HP:0003701Proximal muscle weakness0PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003701HP:0003701Proximal muscle weakness0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0003701HP:0003701Proximal muscle weakness0PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q.759
HP:0003701HP:0003701Proximal muscle weakness0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17759
HP:0003701HP:0003701Proximal muscle weakness0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0003701HP:0003701Proximal muscle weakness0PMP22 CL E G H53769118OMIM:145900Hypertrophic neuropathy of dejerine-sottas79
HP:0003701HP:0003701Proximal muscle weakness0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy65
HP:0003701HP:0003701Proximal muscle weakness0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathy65
HP:0003701HP:0003701Proximal muscle weakness0PNPLA8 CL E G H5064028900OMIM:251950Mitochondrial myopathy with lactic acidosis.3
HP:0003701HP:0003701Proximal muscle weakness0POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z6
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive.464
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.464
HP:0003701HP:0003701Proximal muscle weakness0POLG CL E G H54289179ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent464
HP:0003701HP:0003701Proximal muscle weakness0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0003701HP:0003701Proximal muscle weakness0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0003701HP:0003701Proximal muscle weakness0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0003701HP:0003701Proximal muscle weakness0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent180
HP:0003701HP:0003701Proximal muscle weakness0POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.180
HP:0003701HP:0003701Proximal muscle weakness0POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8.33
HP:0003701HP:0003701Proximal muscle weakness0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent18
HP:0003701HP:0003701Proximal muscle weakness0POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1218
HP:0003701HP:0003701Proximal muscle weakness0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent213
HP:0003701HP:0003701Proximal muscle weakness0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040282 - Frequent213
HP:0003701HP:0003701Proximal muscle weakness0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040282 - Frequent221
HP:0003701HP:0003701Proximal muscle weakness0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0003701HP:0003701Proximal muscle weakness0POMT2 CL E G H2995419743OMIM:613158Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2.221
HP:0003701HP:0003701Proximal muscle weakness0POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003701HP:0003701Proximal muscle weakness0PPOX CL E G H54989280ORPHA:79473Porphyria variegata41
HP:0003701HP:0003701Proximal muscle weakness0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 4.2
HP:0003701HP:0003701Proximal muscle weakness0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0003701HP:0003701Proximal muscle weakness0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0003701HP:0003701Proximal muscle weakness0PRX CL E G H5771613797OMIM:145900Hypertrophic neuropathy of dejerine-sottas170
HP:0003701HP:0003701Proximal muscle weakness0PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiency166
HP:0003701HP:0003701Proximal muscle weakness0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0003701HP:0003701Proximal muscle weakness0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0003701HP:0003701Proximal muscle weakness0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0003701HP:0003701Proximal muscle weakness0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency.10
HP:0003701HP:0003701Proximal muscle weakness0REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 3187
HP:0003701HP:0003701Proximal muscle weakness0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0003701HP:0003701Proximal muscle weakness0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathy1200
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040282 - Frequent1200
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H626110483OMIM:255320Minicore myopathy with external ophthalmoplegia.1200
HP:0003701HP:0003701Proximal muscle weakness0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0003701HP:0003701Proximal muscle weakness0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003701HP:0003701Proximal muscle weakness0SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysis263
HP:0003701HP:0003701Proximal muscle weakness0SCN4A CL E G H632910591ORPHA:99734Myotonia fluctuansHP:0040284 - Very rare263
HP:0003701HP:0003701Proximal muscle weakness0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0003701HP:0003701Proximal muscle weakness0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0003701HP:0003701Proximal muscle weakness0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0003701HP:0003701Proximal muscle weakness0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0003701HP:0003701Proximal muscle weakness0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0003701HP:0003701Proximal muscle weakness0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0003701HP:0003701Proximal muscle weakness0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0003701HP:0003701Proximal muscle weakness0SELENON CL E G H5719015999ORPHA:97244Rigid spine syndrome144
HP:0003701HP:0003701Proximal muscle weakness0SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0003701HP:0003701Proximal muscle weakness0SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0003701HP:0003701Proximal muscle weakness0SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4113
HP:0003701HP:0003701Proximal muscle weakness0SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0003701HP:0003701Proximal muscle weakness0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0003701HP:0003701Proximal muscle weakness0SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C83
HP:0003701HP:0003701Proximal muscle weakness0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0003701HP:0003701Proximal muscle weakness0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0003701HP:0003701Proximal muscle weakness0SLC12A6 CL E G H999010914OMIM:620068163
HP:0003701HP:0003701Proximal muscle weakness0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0003701HP:0003701Proximal muscle weakness0SLC22A5 CL E G H658410969OMIM:212140Carnitine deficiency, systemic primary207
HP:0003701HP:0003701Proximal muscle weakness0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent28
HP:0003701HP:0003701Proximal muscle weakness0SLC25A21 CL E G H8987414411OMIM:618811MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0003701HP:0003701Proximal muscle weakness0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0003701HP:0003701Proximal muscle weakness0SLC52A3 CL E G H11327816187OMIM:211530Brown-Vialetto-Van laere syndrome 1.51
HP:0003701HP:0003701Proximal muscle weakness0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0003701HP:0003701Proximal muscle weakness0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent9
HP:0003701HP:0003701Proximal muscle weakness0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I22
HP:0003701HP:0003701Proximal muscle weakness0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III.22
HP:0003701HP:0003701Proximal muscle weakness0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV.22
HP:0003701HP:0003701Proximal muscle weakness0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III.1
HP:0003701HP:0003701Proximal muscle weakness0SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003701HP:0003701Proximal muscle weakness0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0003701HP:0003701Proximal muscle weakness0SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0003701HP:0003701Proximal muscle weakness0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0003701HP:0003701Proximal muscle weakness0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0003701HP:0003701Proximal muscle weakness0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0003701HP:0003701Proximal muscle weakness0SQSTM1 CL E G H887811280ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent62
HP:0003701HP:0003701Proximal muscle weakness0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0003701HP:0003701Proximal muscle weakness0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0003701HP:0003701Proximal muscle weakness0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type1129
HP:0003701HP:0003701Proximal muscle weakness0SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy1129
HP:0003701HP:0003701Proximal muscle weakness0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0003701HP:0003701Proximal muscle weakness0SYNE1 CL E G H2334517089OMIM:612998Emery-Dreifuss muscular dystrophy 4, autosomal dominant.1129
HP:0003701HP:0003701Proximal muscle weakness0SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy508
HP:0003701HP:0003701Proximal muscle weakness0SYNE2 CL E G H2322417084OMIM:612999Emery-Dreifuss muscular dystrophy 5, autosomal dominant.508
HP:0003701HP:0003701Proximal muscle weakness0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynapticHP:0040283 - Occasional4
HP:0003701HP:0003701Proximal muscle weakness0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent4
HP:0003701HP:0003701Proximal muscle weakness0TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0003701HP:0003701Proximal muscle weakness0TARDBP CL E G H2343511571ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent65
HP:0003701HP:0003701Proximal muscle weakness0TBK1 CL E G H2911011584ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent20
HP:0003701HP:0003701Proximal muscle weakness0TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G78
HP:0003701HP:0003701Proximal muscle weakness0TFG CL E G H1034211758OMIM:604484Neuropathy, hereditary motor and sensory, Okinawa type.18
HP:0003701HP:0003701Proximal muscle weakness0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0003701HP:0003701Proximal muscle weakness0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type)103
HP:0003701HP:0003701Proximal muscle weakness0TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic form103
HP:0003701HP:0003701Proximal muscle weakness0TK2 CL E G H708411831OMIM:617069Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3.103
HP:0003701HP:0003701Proximal muscle weakness0TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophy171
HP:0003701HP:0003701Proximal muscle weakness0TMEM43 CL E G H7918828472OMIM:614302Emery-Dreifuss muscular dystrophy 7, autosomal dominant.171
HP:0003701HP:0003701Proximal muscle weakness0TNXB CL E G H714811976ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1HP:0040282 - Frequent134
HP:0003701HP:0003701Proximal muscle weakness0TNXB CL E G H714811976OMIM:606408Ehlers-Danlos syndrome, classic-likeHP:0040283 - Occasional134
HP:0003701HP:0003701Proximal muscle weakness0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0003701HP:0003701Proximal muscle weakness0TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0003701HP:0003701Proximal muscle weakness0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0003701HP:0003701Proximal muscle weakness0TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 454
HP:0003701HP:0003701Proximal muscle weakness0TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0003701HP:0003701Proximal muscle weakness0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0003701HP:0003701Proximal muscle weakness0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0003701HP:0003701Proximal muscle weakness0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndrome27
HP:0003701HP:0003701Proximal muscle weakness0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0003701HP:0003701Proximal muscle weakness0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040282 - Frequent27
HP:0003701HP:0003701Proximal muscle weakness0TRDN CL E G H1034512261OMIM:615441VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5145
HP:0003701HP:0003701Proximal muscle weakness0TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0003701HP:0003701Proximal muscle weakness0TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8108
HP:0003701HP:0003701Proximal muscle weakness0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0003701HP:0003701Proximal muscle weakness0TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0003701HP:0003701Proximal muscle weakness0TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0003701HP:0003701Proximal muscle weakness0TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0003701HP:0003701Proximal muscle weakness0TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0003701HP:0003701Proximal muscle weakness0TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003701HP:0003701Proximal muscle weakness0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H727312403ORPHA:178464Hereditary myopathy with early respiratory failureHP:0040283 - Occasional7128
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H727312403OMIM:608807Muscular dystrophy, limb-girdle, autosomal recessive 10.7128
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003701HP:0003701Proximal muscle weakness0TTN CL E G H727312403ORPHA:609Tibial muscular dystrophy7128
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H566521160OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis.113
HP:0003701HP:0003701Proximal muscle weakness0TWNK CL E G H566521160ORPHA:70595Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeHP:0040282 - Frequent113
HP:0003701HP:0003701Proximal muscle weakness0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040282 - Frequent35
HP:0003701HP:0003701Proximal muscle weakness0UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0003701HP:0003701Proximal muscle weakness0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040281 - Very frequent2
HP:0003701HP:0003701Proximal muscle weakness0VAPB CL E G H921712649OMIM:608627Amyotrophic lateral sclerosis 8116
HP:0003701HP:0003701Proximal muscle weakness0VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included.116
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H741512666ORPHA:275872Frontotemporal dementia with motor neuron diseaseHP:0040282 - Frequent63
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0003701HP:0003701Proximal muscle weakness0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040281 - Very frequent63
HP:0003701HP:0003701Proximal muscle weakness0VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy10
HP:0003701HP:0003701Proximal muscle weakness0VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003701HP:0009073Progressive proximal muscle weakness1ABHD5 CL E G H5109921396ORPHA:98907Neutral lipid storage disease with ichthyosisHP:0040281 - Very frequent90
HP:0003701HP:0003391Gowers sign1ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0003701HP:0003391Gowers sign1ACTA1 CL E G H58129ORPHA:97244Rigid spine syndromeHP:0040283 - Occasional96
HP:0003701HP:0003391Gowers sign1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0003701HP:0003391Gowers sign1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0003701HP:0003391Gowers sign1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0003701HP:0003391Gowers sign1ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14.46
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040281 - Very frequent304
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040283 - Occasional304
HP:0003701HP:0009073Progressive proximal muscle weakness1ANO5 CL E G H20385927337ORPHA:399096Distal anoctaminopathyHP:0040283 - Occasional304
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003701HP:0003391Gowers sign1ASAH1 CL E G H427735OMIM:159950Spinal muscular atrophy with progressive myoclonic epilepsy.78
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0003701HP:0003391Gowers sign1BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040282 - Frequent46
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant46
HP:0003701HP:0003391Gowers sign1BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant.46
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0003701HP:0003391Gowers sign1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0003701HP:0003391Gowers sign1BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0003701HP:0003694Late-onset proximal muscle weakness1CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysisHP:0040283 - Occasional247
HP:0003701HP:0003694Late-onset proximal muscle weakness1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional247
HP:0003701HP:0003391Gowers sign1CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 7.35
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040283 - Occasional11
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CHCHD10 CL E G H40091615559ORPHA:457050Autosomal dominant mitochondrial myopathy with exercise intoleranceHP:0040282 - Frequent11
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040283 - Occasional11
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040282 - Frequent11
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CHCHD10 CL E G H40091615559OMIM:616209Myopathy, isolated mitochondrial, autosomal dominant.11
HP:0003701HP:0003391Gowers sign1CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0003701HP:0003391Gowers sign1CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0003701HP:0003391Gowers sign1CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0003701HP:0009073Progressive proximal muscle weakness1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040281 - Very frequent65
HP:0003701HP:0003391Gowers sign1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040283 - Occasional65
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL12A1 CL E G H13032188ORPHA:610Bethlem myopathy65
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathy442
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040281 - Very frequent442
HP:0003701HP:0003391Gowers sign1COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040283 - Occasional442
HP:0003701HP:0003391Gowers sign1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040283 - Occasional478
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040281 - Very frequent478
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A2 CL E G H12922212ORPHA:610Bethlem myopathy478
HP:0003701HP:0003391Gowers sign1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040283 - Occasional702
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathy702
HP:0003701HP:0009073Progressive proximal muscle weakness1COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040281 - Very frequent702
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COX1 CL E G H45127419ORPHA:99845Genetic recurrent myoglobinuria
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1COX3 CL E G H45147422ORPHA:99845Genetic recurrent myoglobinuria
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040282 - Frequent72
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040282 - Frequent72
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1CRPPA CL E G H72992037276ORPHA:352479ISPD-related limb-girdle muscular dystrophy R20HP:0040282 - Frequent
HP:0003701HP:0009073Progressive proximal muscle weakness1CRYAB CL E G H14102389ORPHA:399058Alpha-B crystallin-related late-onset myopathyHP:0040283 - Occasional46
HP:0003701HP:0003694Late-onset proximal muscle weakness1CRYAB CL E G H14102389OMIM:608810Myopathy, myofibrillar, 2, mfm2.46
HP:0003701HP:0003391Gowers sign1DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040283 - Occasional108
HP:0003701HP:0003391Gowers sign1DAG1 CL E G H16052666OMIM:613818Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9.108
HP:0003701HP:0003694Late-onset proximal muscle weakness1DES CL E G H16742770OMIM:601419Myopathy, myofibrillar, 1.263
HP:0003701HP:0003391Gowers sign1DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy.1496
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0003701HP:0003391Gowers sign1DNA2 CL E G H17632939ORPHA:352470DNA2-related mitochondrial DNA deletion syndromeHP:0040282 - Frequent41
HP:0003701HP:0003391Gowers sign1DNA2 CL E G H17632939OMIM:615156Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6.41
HP:0003701HP:0003391Gowers sign1DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E.103
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003701HP:0003391Gowers sign1DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial.91
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0003701HP:0003391Gowers sign1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0003701HP:0003391Gowers sign1DPM3 CL E G H543443007OMIM:612937MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC159
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0003701HP:0009073Progressive proximal muscle weakness1DYSF CL E G H82913097ORPHA:178400Distal myopathy with anterior tibial onsetHP:0040282 - Frequent600
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040282 - Frequent600
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040283 - Occasional600
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathy600
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0003701HP:0003391Gowers sign1FKTN CL E G H22183622OMIM:611615Cardiomyopathy, dilated, 1X184
HP:0003701HP:0003391Gowers sign1FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040283 - Occasional197
HP:0003701HP:0003694Late-onset proximal muscle weakness1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional
HP:0003701HP:0003391Gowers sign1GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 3HP:0040283 - Occasional86
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1GDAP1 CL E G H5433215968OMIM:607706Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive108
HP:0003701HP:0003391Gowers sign1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0003701HP:0003391Gowers sign1GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0003701HP:0003391Gowers sign1GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0003701HP:0009073Progressive proximal muscle weakness1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1GIPC1 CL E G H107551226ORPHA:98897Oculopharyngodistal myopathyHP:0040284 - Very rare
HP:0003701HP:0003391Gowers sign1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0003701HP:0003391Gowers sign1HACD1 CL E G H92009639OMIM:6199672
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1HEXB CL E G H30744879ORPHA:309169Sandhoff disease, adult form80
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040283 - Occasional81
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1HNRNPA1 CL E G H31785031OMIM:615424Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 331
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003701HP:0003391Gowers sign1INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability.7
HP:0003701HP:0003391Gowers sign1ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0003701HP:0003694Late-onset proximal muscle weakness1KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysisHP:0040283 - Occasional73
HP:0003701HP:0003694Late-onset proximal muscle weakness1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040283 - Occasional10
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003701HP:0003391Gowers sign1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0003701HP:0009073Progressive proximal muscle weakness1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040282 - Frequent286
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040284 - Very rare286
HP:0003701HP:0009073Progressive proximal muscle weakness1LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040282 - Frequent7
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040282 - Frequent7
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LMNA CL E G H40006636ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1LMNA CL E G H40006636ORPHA:98855Autosomal recessive Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent645
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LPIN1 CL E G H2317513345ORPHA:99845Genetic recurrent myoglobinuria95
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003701HP:0003391Gowers sign1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MLIP CL E G H9052321355OMIM:620138
HP:0003701HP:0009073Progressive proximal muscle weakness1MLIP CL E G H9052321355OMIM:620138
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040283 - Occasional8
HP:0003701HP:0003391Gowers sign1MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003701HP:0003391Gowers sign1MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1MYH7 CL E G H46257577ORPHA:59135Laing early-onset distal myopathyHP:0040283 - Occasional1269
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophy1269
HP:0003701HP:0009073Progressive proximal muscle weakness1MYOT CL E G H949912399ORPHA:98911Distal myotilinopathyHP:0040283 - Occasional75
HP:0003701HP:0003391Gowers sign1MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0003701HP:0003391Gowers sign1MYPN CL E G H8466523246OMIM:617336Nemaline myopathy 11, autosomal recessive.217
HP:0003701HP:0009073Progressive proximal muscle weakness1NEB CL E G H47037720ORPHA:399103Distal nebulin myopathyHP:0040283 - Occasional745
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040283 - Occasional118
HP:0003701HP:0003391Gowers sign1NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate GHP:0040284 - Very rare118
HP:0003701HP:0009073Progressive proximal muscle weakness1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040283 - Occasional
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1NOTCH2NLC CL E G H10099671753924ORPHA:98897Oculopharyngodistal myopathyHP:0040284 - Very rare
HP:0003701HP:0003391Gowers sign1ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0003701HP:0003391Gowers sign1PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q.759
HP:0003701HP:0003391Gowers sign1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759
HP:0003701HP:0009073Progressive proximal muscle weakness1PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040281 - Very frequent759
HP:0003701HP:0003391Gowers sign1PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0003701HP:0009073Progressive proximal muscle weakness1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040281 - Very frequent65
HP:0003701HP:0003391Gowers sign1PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0003701HP:0003391Gowers sign1PNPLA8 CL E G H5064028900OMIM:251950Mitochondrial myopathy with lactic acidosis.3
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1POGLUT1 CL E G H5698322954OMIM:617232Muscular dystrophy, limb-girdle, type 2Z.6
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegia464
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegia45
HP:0003701HP:0003391Gowers sign1POMGNT1 CL E G H5562419139OMIM:613157Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3.180
HP:0003701HP:0003391Gowers sign1POMGNT2 CL E G H8489225902OMIM:618135Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8.33
HP:0003701HP:0003391Gowers sign1POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12.18
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11213
HP:0003701HP:0003391Gowers sign1POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040282 - Frequent213
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1POPDC3 CL E G H6420817649OMIM:618848MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040282 - Frequent41
HP:0003701HP:0009073Progressive proximal muscle weakness1PYGM CL E G H58379726ORPHA:368Glycogen storage disease due to muscle glycogen phosphorylase deficiencyHP:0040283 - Occasional166
HP:0003701HP:0003391Gowers sign1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0003701HP:0003391Gowers sign1RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.73
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1REEP1 CL E G H6505525786ORPHA:101011Autosomal dominant spastic paraplegia type 31HP:0040281 - Very frequent87
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegia125
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0003701HP:0003391Gowers sign1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent1200
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0003701HP:0003694Late-onset proximal muscle weakness1SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysisHP:0040283 - Occasional263
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0003701HP:0003391Gowers sign1SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0003701HP:0003391Gowers sign1SELENON CL E G H5719015999ORPHA:97244Rigid spine syndromeHP:0040283 - Occasional144
HP:0003701HP:0003391Gowers sign1SGCA CL E G H644210805ORPHA:62Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3HP:0040282 - Frequent132
HP:0003701HP:0003391Gowers sign1SGCA CL E G H644210805OMIM:608099Muscular dystrophy, limb-girdle, type 2D132
HP:0003701HP:0003391Gowers sign1SGCB CL E G H644310806ORPHA:119Beta-sarcoglycan-related limb-girdle muscular dystrophy R4HP:0040282 - Frequent113
HP:0003701HP:0003391Gowers sign1SGCD CL E G H644410807OMIM:601287Muscular dystrophy, limb-girdle, type 2F.223
HP:0003701HP:0003391Gowers sign1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040283 - Occasional83
HP:0003701HP:0003391Gowers sign1SGCG CL E G H644510809OMIM:253700Muscular dystrophy, limb-girdle, type 2C.83
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SLC12A6 CL E G H999010914OMIM:620068163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegia68
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SMPX CL E G H2367611122OMIM:301075MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD712
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SORD CL E G H665211184OMIM:618912SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0003701HP:0003391Gowers sign1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent20
HP:0003701HP:0003391Gowers sign1SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SYNE1 CL E G H2334517089ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent1129
HP:0003701HP:0003391Gowers sign1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1SYNE2 CL E G H2322417084ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent508
HP:0003701HP:0003391Gowers sign1TAFAZZIN CL E G H690111577OMIM:302060Barth syndrome
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1TCAP CL E G H855711610OMIM:601954Muscular dystrophy, limb-girdle, type 2G.78
HP:0003701HP:0003391Gowers sign1TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0003701HP:0009073Progressive proximal muscle weakness1TK2 CL E G H708411831ORPHA:254875Mitochondrial DNA depletion syndrome, myopathic formHP:0040282 - Frequent103
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1TMEM43 CL E G H7918828472ORPHA:98853Autosomal dominant Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent171
HP:0003701HP:0003391Gowers sign1TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0003701HP:0003391Gowers sign1TPM2 CL E G H716912011OMIM:609285Nemaline myopathy 4.54
HP:0003701HP:0003391Gowers sign1TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0003701HP:0009073Progressive proximal muscle weakness1TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0003701HP:0003391Gowers sign1TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H108
HP:0003701HP:0003391Gowers sign1TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1TRIM32 CL E G H2295416380ORPHA:1878TRIM32-related limb-girdle muscular dystrophy R8HP:0040281 - Very frequent108
HP:0003701HP:0009073Progressive proximal muscle weakness1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040282 - Frequent
HP:0003701HP:0009073Progressive proximal muscle weakness1TRNL1 CL E G H45677490ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003701HP:0009073Progressive proximal muscle weakness1TRNL2 CL E G H45687491ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003701HP:0009073Progressive proximal muscle weakness1TRNN CL E G H45707493ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003701HP:0009073Progressive proximal muscle weakness1TRNS1 CL E G H45747497ORPHA:663Mitochondrial DNA-related progressive external ophthalmoplegiaHP:0040282 - Frequent
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1TRPV4 CL E G H5934118083OMIM:606071Hereditary motor and sensory neuropathy, type IIC214
HP:0003701HP:0003391Gowers sign1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0003701HP:0003391Gowers sign1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent7128
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040283 - Occasional7128
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegia113
HP:0003701HP:0003391Gowers sign1UNC45B CL E G H14686214304OMIM:619178MYOFIBRILLAR MYOPATHY 11; MFM111
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63
HP:0003701HP:0009073Progressive proximal muscle weakness1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy.10
HP:0003701HP:0003391Gowers sign1VMA21 CL E G H20354722082OMIM:310440Myopathy, X-linked, with excessive autophagy.10
HP:0003701HP:0008997Proximal muscle weakness in upper limbs1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003701HP:0008994Proximal muscle weakness in lower limbs1VWA1 CL E G H6485630910OMIM:619216NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0003701HP:0003731Quadriceps muscle weakness2ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0003701HP:0031108Triceps weakness2ADSS1 CL E G H12262220093ORPHA:482601Adenylosuccinate synthetase-like 1-related distal myopathyHP:0040282 - Frequent
HP:0003701HP:0031108Triceps weakness2AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0003701HP:0031108Triceps weakness2AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional1
HP:0003701HP:0031108Triceps weakness2CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional74
HP:0003701HP:0031108Triceps weakness2CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional53
HP:0003701HP:0031108Triceps weakness2CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional88
HP:0003701HP:0031108Triceps weakness2CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional139
HP:0003701HP:0003731Quadriceps muscle weakness2COL12A1 CL E G H13032188ORPHA:610Bethlem myopathyHP:0040282 - Frequent65
HP:0003701HP:0031108Triceps weakness2COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0003701HP:0003731Quadriceps muscle weakness2COL6A1 CL E G H12912211ORPHA:610Bethlem myopathyHP:0040282 - Frequent442
HP:0003701HP:0003731Quadriceps muscle weakness2COL6A2 CL E G H12922212ORPHA:610Bethlem myopathyHP:0040282 - Frequent478
HP:0003701HP:0003731Quadriceps muscle weakness2COL6A3 CL E G H12932213ORPHA:610Bethlem myopathyHP:0040282 - Frequent702
HP:0003701HP:0003731Quadriceps muscle weakness2DMD CL E G H17562928ORPHA:206546Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers1496
HP:0003701HP:0031108Triceps weakness2DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional91
HP:0003701HP:0031108Triceps weakness2DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040283 - Occasional600
HP:0003701HP:0003731Quadriceps muscle weakness2DYSF CL E G H82913097ORPHA:45448Miyoshi myopathyHP:0040282 - Frequent600
HP:0003701HP:0031108Triceps weakness2FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID.1
HP:0003701HP:0003731Quadriceps muscle weakness2GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0003701HP:0003731Quadriceps muscle weakness2GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0003701HP:0003731Quadriceps muscle weakness2HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003701HP:0031108Triceps weakness2JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0003701HP:0031108Triceps weakness2LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional124
HP:0003701HP:0003731Quadriceps muscle weakness2MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0003701HP:0031108Triceps weakness2MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040283 - Occasional203
HP:0003701HP:0031108Triceps weakness2MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional72
HP:0003701HP:0031108Triceps weakness2MYH7 CL E G H46257577ORPHA:437572MYH7-related late-onset scapuloperoneal muscular dystrophyHP:0040283 - Occasional1269
HP:0003701HP:0003731Quadriceps muscle weakness2PHKA1 CL E G H52558925OMIM:300559Muscle glycogenosis, X-linked54
HP:0003701HP:0003731Quadriceps muscle weakness2POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent464
HP:0003701HP:0003731Quadriceps muscle weakness2POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent45
HP:0003701HP:0031108Triceps weakness2POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0003701HP:0031108Triceps weakness2RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional73
HP:0003701HP:0003731Quadriceps muscle weakness2RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent125
HP:0003701HP:0031108Triceps weakness2SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional263
HP:0003701HP:0003731Quadriceps muscle weakness2SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent68
HP:0003701HP:0003731Quadriceps muscle weakness2TRIM32 CL E G H2295416380OMIM:254110Muscular dystrophy, limb-girdle, type 2H.108
HP:0003701HP:0003731Quadriceps muscle weakness2TTN CL E G H727312403OMIM:603689Myopathy, myofibrillar, 9, with early respiratory failure7128
HP:0003701HP:0003731Quadriceps muscle weakness2TTN CL E G H727312403ORPHA:609Tibial muscular dystrophyHP:0040283 - Occasional7128
HP:0003701HP:0003731Quadriceps muscle weakness2TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040282 - Frequent113
HP:0003701HP:0003731Quadriceps muscle weakness2VCP CL E G H741512666ORPHA:435387Autosomal dominant Charcot-Marie-Tooth disease type 2YHP:0040283 - Occasional63


Genes (239) :ABHD5 ACADM ACBD5 ACTA1 ACTN2 ADSS1 AGRN AK9 ALG14 ALG2 ALS2 ANO5 ANXA11 ARMC5 ASAH1 ATP6 ATP7B ATXN1 BICD2 BIN1 BTNL2 BVES C9ORF72 CACNA1S CAPN3 CASQ1 CAVIN1 CFL2 CHAT CHCHD10 CHKB CHRNA1 CHRNB1 CHRND CHRNE CNBP COL12A1 COL13A1 COL6A1 COL6A2 COL6A3 COL9A3 COLQ COQ8A COX1 COX3 CPOX CPT1C CRPPA CRYAB DAG1 DES DGUOK DMD DMXL2 DNA2 DNAJB6 DNM2 DOK7 DPAGT1 DPM3 DYNC1H1 DYSF EGR2 EMD FBXO38 FHL1 FKRP FKTN FLAD1 FLNC FUS FXR1 GAA GABRA3 GAN GATM GDAP1 GFPT1 GIPC1 GMPPB GNAS HACD1 HEXB HK1 HLA-DRB1 HMBS HNRNPA1 HNRNPA2B1 HSPG2 IGHMBP2 INPP5K ITGA7 JAG1 JAG2 JPH1 KCNE3 KCNJ18 KY LAMA2 LAMB2 LAMP2 LARGE1 LDB3 LIPE LMNA LPIN1 LRIF1 LRP12 LRP4 LTBP4 MAP3K20 MFN2 MICU1 MLIP MORC2 MPZ MSTO1 MTAP MTMR14 MTMR2 MUSK MYBPC1 MYF6 MYH14 MYH2 MYH7 MYL1 MYMK MYO9A MYOT MYPN NARS2 NDRG1 NEB NEFH NEFL NOTCH2NLC NUTM2B-AS1 OAT OPA1 ORAI1 PABPN1 PDE11A PDE8B PHKA1 PIGN PLEC PLEKHG5 PMP22 PNPLA2 PNPLA8 POGLUT1 POLG POLG2 POLR3GL POLRMT POMGNT1 POMGNT2 POMK POMT1 POMT2 POPDC3 PPOX PRKACA PRKAR1A PRX PYGM PYROXD1 RAPSN RBCK1 REEP1 RRM2B RUSC2 RYR1 SBF2 SCN4A SDHA SDHAF1 SDHB SDHD SECISBP2 SELENON SGCA SGCB SGCD SGCG SH3TC2 SIGMAR1 SLC12A6 SLC18A3 SLC22A5 SLC25A1 SLC25A21 SLC25A4 SLC52A3 SLC5A7 SMN1 SMN2 SMPX SNAP25 SORD SPEG SPG11 SPTLC1 SQSTM1 STIM1 SYNE1 SYNE2 SYT2 TAFAZZIN TARDBP TBK1 TCAP TFG TK2 TMEM43 TNXB TOP3A TPM2 TPM3 TRAPPC11 TRDN TRIM32 TRNE TRNL1 TRNL2 TRNN TRNS1 TRPV4 TTN TWNK UBA1 UNC45B VAMP1 VAPB VCP VMA21 VWA1

Diseases (288) :ORPHA:98907 ORPHA:42 OMIM:618863 OMIM:255310 OMIM:161800 ORPHA:97244 ORPHA:97240 OMIM:618654 OMIM:618655 ORPHA:482601 OMIM:615120 ORPHA:98913 ORPHA:98914 ORPHA:353327 OMIM:616228 OMIM:205100 ORPHA:300605 ORPHA:206549 ORPHA:399096 OMIM:611307 OMIM:619733 ORPHA:189427 OMIM:159950 ORPHA:644 OMIM:551500 ORPHA:905 OMIM:164400 ORPHA:363454 OMIM:615290 ORPHA:169189 ORPHA:169186 OMIM:255200 ORPHA:797 OMIM:616812 ORPHA:275872 ORPHA:681 ORPHA:79102 ORPHA:267 OMIM:618129 OMIM:616231 OMIM:613327 OMIM:610687 ORPHA:457050 OMIM:615911 ORPHA:276435 OMIM:616209 OMIM:602541 OMIM:608930 OMIM:608931 OMIM:602668 ORPHA:610 OMIM:616471 ORPHA:536516 OMIM:158810 OMIM:254090 OMIM:255600 OMIM:600969 ORPHA:98915 ORPHA:139485 OMIM:612016 ORPHA:99845 ORPHA:79273 OMIM:616282 ORPHA:352479 ORPHA:399058 OMIM:608810 ORPHA:280333 OMIM:613818 OMIM:601419 OMIM:617070 ORPHA:98896 OMIM:310200 ORPHA:206546 ORPHA:453533 ORPHA:352470 OMIM:615156 OMIM:603511 OMIM:160150 OMIM:254300 OMIM:614750 OMIM:612937 OMIM:158600 ORPHA:178400 ORPHA:268 ORPHA:45448 OMIM:253601 OMIM:145900 ORPHA:98863 OMIM:615575 OMIM:300718 OMIM:300717 OMIM:300696 OMIM:300695 ORPHA:370959 ORPHA:34515 OMIM:606612 OMIM:607155 OMIM:611615 OMIM:611588 OMIM:255100 ORPHA:63273 OMIM:609524 OMIM:614065 OMIM:618823 ORPHA:308552 OMIM:232300 ORPHA:643 OMIM:256850 OMIM:612718 ORPHA:99944 ORPHA:101097 ORPHA:99948 OMIM:607831 OMIM:607706 OMIM:610542 ORPHA:98897 ORPHA:363623 OMIM:615352 OMIM:619967 ORPHA:309169 ORPHA:309162 ORPHA:99953 ORPHA:79276 OMIM:615424 ORPHA:52430 OMIM:255800 OMIM:616155 OMIM:617404 OMIM:613204 OMIM:619574 OMIM:619566 ORPHA:496689 OMIM:618138 OMIM:300257 OMIM:608840 ORPHA:98912 OMIM:609452 ORPHA:435660 OMIM:615980 ORPHA:98853 ORPHA:98855 ORPHA:98856 OMIM:605588 OMIM:619477 OMIM:164310 OMIM:617760 ORPHA:99947 OMIM:617087 OMIM:601152 OMIM:615673 ORPHA:401768 OMIM:620138 ORPHA:466768 OMIM:616688 OMIM:619090 ORPHA:502423 OMIM:112250 OMIM:601382 OMIM:616325 OMIM:618524 ORPHA:397744 OMIM:605637 ORPHA:59135 ORPHA:437572 OMIM:160500 OMIM:255160 OMIM:618414 OMIM:254940 ORPHA:266 ORPHA:98911 OMIM:182920 OMIM:609200 ORPHA:171881 OMIM:617336 OMIM:616239 ORPHA:99950 ORPHA:399103 OMIM:256030 OMIM:616924 ORPHA:99939 ORPHA:101085 OMIM:617882 OMIM:618637 OMIM:258870 OMIM:165500 OMIM:612782 OMIM:615883 OMIM:164300 ORPHA:189439 OMIM:300559 ORPHA:280633 OMIM:613723 ORPHA:254361 OMIM:611067 OMIM:610717 ORPHA:98908 OMIM:251950 OMIM:617232 ORPHA:254892 ORPHA:254886 OMIM:258450 OMIM:607459 ORPHA:70595 OMIM:619234 OMIM:619743 OMIM:613157 OMIM:618135 OMIM:616094 ORPHA:86812 OMIM:613156 OMIM:613158 OMIM:618848 ORPHA:79473 OMIM:615830 ORPHA:368 OMIM:617258 OMIM:616326 OMIM:615895 ORPHA:101011 OMIM:617773 ORPHA:98905 ORPHA:424107 OMIM:619542 OMIM:255320 ORPHA:99956 ORPHA:99734 ORPHA:3208 ORPHA:171706 ORPHA:62 OMIM:608099 ORPHA:119 OMIM:601287 ORPHA:353 OMIM:253700 OMIM:601596 OMIM:620068 OMIM:212140 OMIM:618811 OMIM:211530 OMIM:617143 OMIM:253300 OMIM:253400 OMIM:271150 OMIM:301075 OMIM:618912 OMIM:160565 OMIM:185070 OMIM:618484 ORPHA:319332 OMIM:612998 OMIM:612999 OMIM:616040 OMIM:302060 OMIM:601954 OMIM:604484 OMIM:609560 ORPHA:254875 OMIM:617069 OMIM:614302 ORPHA:230839 OMIM:606408 OMIM:618098 OMIM:609285 OMIM:609284 ORPHA:369847 OMIM:615356 ORPHA:369840 OMIM:615441 OMIM:254110 ORPHA:1878 ORPHA:2596 ORPHA:663 OMIM:606071 OMIM:181405 ORPHA:178464 OMIM:608807 OMIM:603689 ORPHA:609 OMIM:609286 ORPHA:1145 OMIM:619178 OMIM:608627 OMIM:182980 OMIM:613954 ORPHA:435387 OMIM:167320 OMIM:310440 OMIM:619216
 

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