Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormal muscle physiology (HP:0011804)help
..Starting node
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Muscle weakness (HP:0001324)help
Term ID: 1324
Name: Muscle weakness
Synonym: Muscle weakness; Muscular weakness
Definition: Reduced strength of muscles.
Comments:
Reference: HP:0001324
Genes and Diseases:
 
       Child Nodes:
........expandNeck muscle weakness (HP:0000467) help
................... HP:0003722 Neck flexor weakness
........expandBulbar palsy (HP:0001283) help
........expandPoor head control (HP:0002421) help
........expandDistal muscle weakness (HP:0002460) help
................... HP:0002601 Paresis of extensor muscles of the big toe
................... HP:0003392 First dorsal interossei muscle weakness
................... HP:0003810 Late-onset distal muscle weakness
................... HP:0008959 Distal upper limb muscle weakness
................... HP:0009053 Distal lower limb muscle weakness
................... HP:0009063 Progressive distal muscle weakness
........expandProgressive muscle weakness (HP:0003323) help
................... HP:0009073 Progressive proximal muscle weakness
........expandGeneralized muscle weakness (HP:0003324) help
........expandLimb-girdle muscle weakness (HP:0003325) help
................... HP:0003547 Shoulder girdle muscle weakness
................... HP:0003749 Pelvic girdle muscle weakness
........expandAxial muscle weakness (HP:0003327) help
........expandFatigable weakness (HP:0003473) help
................... HP:0030192 Fatigable weakness of bulbar muscles
................... HP:0030196 Fatigable weakness of respiratory muscles
................... HP:0030197 Fatigable weakness of skeletal muscles
........expandLimb muscle weakness (HP:0003690) help
................... HP:0003484 Upper limb muscle weakness
................... HP:0007340 Lower limb muscle weakness
................... HP:0008994 Proximal muscle weakness in lower limbs
................... HP:0009027 Foot dorsiflexor weakness
........expandProximal muscle weakness (HP:0003701) help
................... HP:0003391 Gowers sign
................... HP:0003694 Late-onset proximal muscle weakness
................... HP:0008994 Proximal muscle weakness in lower limbs
................... HP:0008997 Proximal muscle weakness in upper limbs
................... HP:0009073 Progressive proximal muscle weakness
........expandScapuloperoneal weakness (HP:0003704) help
........expandWeakness of muscles of respiration (HP:0004347) help
................... HP:0002203 Respiratory paralysis
................... HP:0002747 Respiratory insufficiency due to muscle weakness
................... HP:0012496 Reduced maximal inspiratory pressure
................... HP:0012497 Reduced maximal expiratory pressure
........expandIntercostal muscle weakness (HP:0004878) help
........expandAbdominal wall muscle weakness (HP:0009023) help
................... HP:0030664 Beevor's sign
........expandDiaphragmatic weakness (HP:0009113) help
................... HP:0006597 Diaphragmatic paralysis
........expandMuscle flaccidity (HP:0010547) help
................... HP:0003752 Episodic flaccid weakness
........expandFacial palsy (HP:0010628) help
................... HP:0001349 Facial diplegia
................... HP:0004661 Frontalis muscle weakness
................... HP:0012799 Unilateral facial palsy
................... HP:0430025 Bilateral facial palsy
........expandWeakness of orbicularis oculi muscle (HP:0012507) help
........expandCold paresis (HP:0031372) help
........expandAnkle weakness (HP:0031374) help

 Sister Nodes: 
..expandAbnormal muscle tone (HP:0003808) help
..expandEMG abnormality (HP:0003457) help
..expandFunctional motor deficit (HP:0004302) help
..expandIncreased muscle fatiguability (HP:0003750) help
..expandMuscle hyperirritability (HP:0003559) help
..expandMuscle spasm (HP:0003394) help
..expandMuscle stiffness (HP:0003552) help
..expandMyotonia (HP:0002486) help
..expandTetany (HP:0001281) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001324HP:0001324Muscle weakness0A2ML1 CL E G H144568648ORPHA12173523336610627
HP:0001324HP:0001324Muscle weakness0AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM17911713666605378
HP:0001324HP:0001324Muscle weakness0ABCC8 CL E G H683379134ORPHA1661110859600509
HP:0001324HP:0001324Muscle weakness0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1661110859600509
HP:0001324HP:0001324Muscle weakness0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13917221396604780
HP:0001324HP:0001324Muscle weakness0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16142021497611103
HP:0001324HP:0001324Muscle weakness0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM128397092609575
HP:0001324HP:0001324Muscle weakness0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11563177104620
HP:0001324HP:0001324Muscle weakness0ADA2 CL E G H51816820ORPHA1553091839607575
HP:0001324HP:0001324Muscle weakness0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0001324HP:0001324Muscle weakness0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140339315604581
HP:0001324HP:0001324Muscle weakness0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12721921869610345
HP:0001324HP:0001324Muscle weakness0AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM12481295321610860
HP:0001324HP:0001324Muscle weakness0AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM1333988768300169
HP:0001324HP:0001324Muscle weakness0ALAS2 CL E G H21275563ORPHA1103269397301300
HP:0001324HP:0001324Muscle weakness0ALDH18A1 CL E G H5832447760ORPHA1333309722138250
HP:0001324HP:0001324Muscle weakness0ALS2 CL E G H57679247604ORPHA173515443606352
HP:0001324HP:0001324Muscle weakness0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173515443606352
HP:0001324HP:0001324Muscle weakness0AMPD1 CL E G H270615511Muscle AMP deaminase deficiency615511C0268123OMIM113134468102770
HP:0001324HP:0001324Muscle weakness0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14623015984606350
HP:0001324HP:0001324Muscle weakness0ARMC5 CL E G H79798189427ORPHA1558125781615549
HP:0001324HP:0001324Muscle weakness0ARSA CL E G H410309271ORPHA1254723713607574
HP:0001324HP:0001324Muscle weakness0ARSA CL E G H410309256ORPHA1254723713607574
HP:0001324HP:0001324Muscle weakness0ARSA CL E G H410309263ORPHA1254723713607574
HP:0001324HP:0001324Muscle weakness0ATP1A3 CL E G H4781171ORPHA1122597801182350
HP:0001324HP:0001324Muscle weakness0ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122597801182350
HP:0001324HP:0001324Muscle weakness0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001324HP:0001324Muscle weakness0ATP7A CL E G H538565ORPHA1357877869300011
HP:0001324HP:0001324Muscle weakness0ATXN7 CL E G H631494147ORPHA163610560607640
HP:0001324HP:0001324Muscle weakness0B3GALNT2 CL E G H148789899ORPHA11633628596610194
HP:0001324HP:0001324Muscle weakness0B4GALNT1 CL E G H2583101006ORPHA1131424117601873
HP:0001324HP:0001324Muscle weakness0B4GAT1 CL E G H11041899ORPHA1711915685605517
HP:0001324HP:0001324Muscle weakness0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1372461020603647
HP:0001324HP:0001324Muscle weakness0BRAF CL E G H673648ORPHA1685991097164757
HP:0001324HP:0001324Muscle weakness0C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM11126784613541
HP:0001324HP:0001324Muscle weakness0C19orf12 CL E G H83636289560ORPHA13823825443614297
HP:0001324HP:0001324Muscle weakness0C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM13823825443614297
HP:0001324HP:0001324Muscle weakness0C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM12416028337614260
HP:0001324HP:0001324Muscle weakness0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM125119631388601011
HP:0001324HP:0001324Muscle weakness0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11195591497300172
HP:0001324HP:0001324Muscle weakness0CAV1 CL E G H857220393ORPHA113801527601047
HP:0001324HP:0001324Muscle weakness0CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM1532014153614666
HP:0001324HP:0001324Muscle weakness0CCN2 CL E G H1490220393ORPHA1222500121009
HP:0001324HP:0001324Muscle weakness0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18412771603400
HP:0001324HP:0001324Muscle weakness0CCR6 CL E G H1235220393ORPHA11481607601835
HP:0001324HP:0001324Muscle weakness0CEP126 CL E G H5756265684ORPHA112829264614634
HP:0001324HP:0001324Muscle weakness0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM191281875601443
HP:0001324HP:0001324Muscle weakness0CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM12720215559615903
HP:0001324HP:0001324Muscle weakness0CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM1112771961100710
HP:0001324HP:0001324Muscle weakness0CNNM2 CL E G H54805613882Hypomagnesemia 6, renal613882C3151295OMIM17169103607803
HP:0001324HP:0001324Muscle weakness0COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM11513092188120320
HP:0001324HP:0001324Muscle weakness0COL1A1 CL E G H1277287ORPHA196713442197120150
HP:0001324HP:0001324Muscle weakness0COL4A1 CL E G H1282899ORPHA11147842202120130
HP:0001324HP:0001324Muscle weakness0COL5A1 CL E G H1289287ORPHA115920322209120215
HP:0001324HP:0001324Muscle weakness0COL5A2 CL E G H1290287ORPHA1399982210120190
HP:0001324HP:0001324Muscle weakness0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15562244601683
HP:0001324HP:0001324Muscle weakness0CPLANE1 CL E G H6525065684ORPHA111880625801614571
HP:0001324HP:0001324Muscle weakness0CPT2 CL E G H1376228302ORPHA11135012330600650
HP:0001324HP:0001324Muscle weakness0CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM11135012330600650
HP:0001324HP:0001324Muscle weakness0CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0001324HP:0001324Muscle weakness0CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM166020580608713
HP:0001324HP:0001324Muscle weakness0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM13333028358609186
HP:0001324HP:0001324Muscle weakness0DAG1 CL E G H1605899ORPHA1113732666128239
HP:0001324HP:0001324Muscle weakness0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16522025538610956
HP:0001324HP:0001324Muscle weakness0DMD CL E G H175698895ORPHA1397050242928300377
HP:0001324HP:0001324Muscle weakness0DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM1397050242928300377
HP:0001324HP:0001324Muscle weakness0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182352933605377
HP:0001324HP:0001324Muscle weakness0DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM167530528608977
HP:0001324HP:0001324Muscle weakness0DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM12503007605951
HP:0001324HP:0001324Muscle weakness0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11408153438609413
HP:0001324HP:0001324Muscle weakness0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1703093439609412
HP:0001324HP:0001324Muscle weakness0ERLIN2 CL E G H11160247604ORPHA1151351356611605
HP:0001324HP:0001324Muscle weakness0ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1302393481608053
HP:0001324HP:0001324Muscle weakness0ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151373482130410
HP:0001324HP:0001324Muscle weakness0ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11914243483231675
HP:0001324HP:0001324Muscle weakness0EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM137417035606019
HP:0001324HP:0001324Muscle weakness0EXT1 CL E G H2131321ORPHA15325143512608177
HP:0001324HP:0001324Muscle weakness0EXT2 CL E G H2132321ORPHA12583673513608210
HP:0001324HP:0001324Muscle weakness0FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM172424200615584
HP:0001324HP:0001324Muscle weakness0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM125030546614585
HP:0001324HP:0001324Muscle weakness0FGF23 CL E G H807489937ORPHA1201583680605380
HP:0001324HP:0001324Muscle weakness0FKRP CL E G H79147899ORPHA114156517997606596
HP:0001324HP:0001324Muscle weakness0FKTN CL E G H2218899ORPHA1595893622607440
HP:0001324HP:0001324Muscle weakness0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1595893622607440
HP:0001324HP:0001324Muscle weakness0FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM111423183756102565
HP:0001324HP:0001324Muscle weakness0FMR1 CL E G H233293256ORPHA1813113775309550
HP:0001324HP:0001324Muscle weakness0FOXC2 CL E G H230333001ORPHA1971093801602402
HP:0001324HP:0001324Muscle weakness0FOXE1 CL E G H230495713ORPHA131683806602617
HP:0001324HP:0001324Muscle weakness0FXN CL E G H239595ORPHA1661303951606829
HP:0001324HP:0001324Muscle weakness0GBE1 CL E G H2632206583ORPHA1744124180607839
HP:0001324HP:0001324Muscle weakness0GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1744124180607839
HP:0001324HP:0001324Muscle weakness0GCK CL E G H264579299ORPHA18485514195138079
HP:0001324HP:0001324Muscle weakness0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18485514195138079
HP:0001324HP:0001324Muscle weakness0GJA1 CL E G H26972710Hm syndromeORPHA11091624274121014
HP:0001324HP:0001324Muscle weakness0GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM14919722932615320
HP:0001324HP:0001324Muscle weakness0GNAS CL E G H2778189427ORPHA12793134392139320
HP:0001324HP:0001324Muscle weakness0GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM142674458172400
HP:0001324HP:0001324Muscle weakness0GYG1 CL E G H2992613507Glycogen storage disease XV613507C3150754OMIM1161104699603942
HP:0001324HP:0001324Muscle weakness0HAMP CL E G H5781779230ORPHA1165215598606464
HP:0001324HP:0001324Muscle weakness0HBB CL E G H3043231214ORPHA187112684827141900
HP:0001324HP:0001324Muscle weakness0HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11263574879606873
HP:0001324HP:0001324Muscle weakness0HJV CL E G H14873879230ORPHA1583324887608374
HP:0001324HP:0001324Muscle weakness0HLA-B CL E G H31063287ORPHA153174932142830
HP:0001324HP:0001324Muscle weakness0HLA-DRB1 CL E G H3123220393ORPHA126244948142857
HP:0001324HP:0001324Muscle weakness0HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232414982609806
HP:0001324HP:0001324Muscle weakness0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM16712925273142461
HP:0001324HP:0001324Muscle weakness0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12846218873606951
HP:0001324HP:0001324Muscle weakness0IFRD1 CL E G H347598771ORPHA13505456603502
HP:0001324HP:0001324Muscle weakness0IL12B CL E G H35933287ORPHA1191345970161561
HP:0001324HP:0001324Muscle weakness0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831286081176730
HP:0001324HP:0001324Muscle weakness0IRF5 CL E G H3663220393ORPHA110396120607218
HP:0001324HP:0001324Muscle weakness0ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM138229882611911
HP:0001324HP:0001324Muscle weakness0ISPD CL E G H729920899ORPHA153637276614631
HP:0001324HP:0001324Muscle weakness0ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM153637276614631
HP:0001324HP:0001324Muscle weakness0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM1105066143600536
HP:0001324HP:0001324Muscle weakness0KAT6B CL E G H23522648ORPHA17635917582605880
HP:0001324HP:0001324Muscle weakness0KCNJ11 CL E G H376779134ORPHA11872986257600937
HP:0001324HP:0001324Muscle weakness0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872986257600937
HP:0001324HP:0001324Muscle weakness0KLHL41 CL E G H10324615731Nemaline myopathy 9615731C3810384OMIM1915316905607701
HP:0001324HP:0001324Muscle weakness0KRAS CL E G H3845648ORPHA1453296407190070
HP:0001324HP:0001324Muscle weakness0L1CAM CL E G H38971497Congenital mixovirusORPHA12936206470308840
HP:0001324HP:0001324Muscle weakness0LARGE1 CL E G H9215899ORPHA1285136511603590
HP:0001324HP:0001324Muscle weakness0LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM1416516084607908
HP:0001324HP:0001324Muscle weakness0LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM157413316636150330
HP:0001324HP:0001324Muscle weakness0LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM12931613345605518
HP:0001324HP:0001324Muscle weakness0LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM1345266696604270
HP:0001324HP:0001324Muscle weakness0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM196228072615831
HP:0001324HP:0001324Muscle weakness0LZTR1 CL E G H8216648ORPHA1869006742600574
HP:0001324HP:0001324Muscle weakness0MLX CL E G H69453287ORPHA112011645602976
HP:0001324HP:0001324Muscle weakness0MPZ CL E G H4359101082ORPHA12464887225159440
HP:0001324HP:0001324Muscle weakness0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM185729678617619
HP:0001324HP:0001324Muscle weakness0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0001324HP:0001324Muscle weakness0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0001324HP:0001324Muscle weakness0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0001324HP:0001324Muscle weakness0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0001324HP:0001324Muscle weakness0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0001324HP:0001324Muscle weakness0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0001324HP:0001324Muscle weakness0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0001324HP:0001324Muscle weakness0MT-TE CL E G H4556254864ORPHA17479590025
HP:0001324HP:0001324Muscle weakness0MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0001324HP:0001324Muscle weakness0MT-TF CL E G H4558550ORPHA17481590070
HP:0001324HP:0001324Muscle weakness0MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001324HP:0001324Muscle weakness0MT-TH CL E G H4564550ORPHA17487590040
HP:0001324HP:0001324Muscle weakness0MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001324HP:0001324Muscle weakness0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001324HP:0001324Muscle weakness0MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001324HP:0001324Muscle weakness0MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0001324HP:0001324Muscle weakness0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0001324HP:0001324Muscle weakness0MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001324HP:0001324Muscle weakness0MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0001324HP:0001324Muscle weakness0MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001324HP:0001324Muscle weakness0MT-TQ CL E G H4572550ORPHA17495590030
HP:0001324HP:0001324Muscle weakness0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0001324HP:0001324Muscle weakness0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0001324HP:0001324Muscle weakness0MT-TW CL E G H4578550ORPHA17501590095
HP:0001324HP:0001324Muscle weakness0MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001324HP:0001324Muscle weakness0MTHFR CL E G H4524236250Homocysteinemia due to MTHFR deficiency236250C1856058OMIM11334077436607093
HP:0001324HP:0001324Muscle weakness0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1454317573160720
HP:0001324HP:0001324Muscle weakness0MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM161647608604875
HP:0001324HP:0001324Muscle weakness0NAGA CL E G H466879279ORPHA1111567631104170
HP:0001324HP:0001324Muscle weakness0NEU1 CL E G H4758812ORPHA1641107758608272
HP:0001324HP:0001324Muscle weakness0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641107758608272
HP:0001324HP:0001324Muscle weakness0NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1301179527765613113
HP:0001324HP:0001324Muscle weakness0NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM11511416287608100
HP:0001324HP:0001324Muscle weakness0NKX2-1 CL E G H708095713ORPHA114316311825600635
HP:0001324HP:0001324Muscle weakness0NKX2-5 CL E G H148295712ORPHA11122802488600584
HP:0001324HP:0001324Muscle weakness0NKX2-5 CL E G H148295713ORPHA11122802488600584
HP:0001324HP:0001324Muscle weakness0NRAS CL E G H4893648ORPHA1142067989164790
HP:0001324HP:0001324Muscle weakness0OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM17223517142602432
HP:0001324HP:0001324Muscle weakness0PAX8 CL E G H784995712ORPHA1511838622167415
HP:0001324HP:0001324Muscle weakness0PAX8 CL E G H784995713ORPHA1511838622167415
HP:0001324HP:0001324Muscle weakness0PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1201258773604961
HP:0001324HP:0001324Muscle weakness0PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1111378794603390
HP:0001324HP:0001324Muscle weakness0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM133996107600733
HP:0001324HP:0001324Muscle weakness0PEX11B CL E G H8799614920Peroxisome biogenesis disorder 14B614920C3554055OMIM182818853603867
HP:0001324HP:0001324Muscle weakness0PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM1102328855601789
HP:0001324HP:0001324Muscle weakness0PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM1144039719600414
HP:0001324HP:0001324Muscle weakness0PFKM CL E G H5213232800Glycogen storage disease, type VII232800C0017926OMIM1273378877610681
HP:0001324HP:0001324Muscle weakness0PFKM CL E G H5213371Qazi Markouizos syndromeORPHA1273378877610681
HP:0001324HP:0001324Muscle weakness0PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM19698881176610
HP:0001324HP:0001324Muscle weakness0PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM1352278905171900
HP:0001324HP:0001324Muscle weakness0PHKA1 CL E G H5255300559Glycogen storage disease IXd300559C1845151OMIM183468925311870
HP:0001324HP:0001324Muscle weakness0PHKB CL E G H5257261750Glycogen storage disease IXb261750C0543514OMIM1262768927172490
HP:0001324HP:0001324Muscle weakness0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM124430035611317
HP:0001324HP:0001324Muscle weakness0PLP1 CL E G H535499015ORPHA13523289086300401
HP:0001324HP:0001324Muscle weakness0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11294849115601785
HP:0001324HP:0001324Muscle weakness0PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM11653859118601097
HP:0001324HP:0001324Muscle weakness0PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM165128900612123
HP:0001324HP:0001324Muscle weakness0POMGNT1 CL E G H55624899ORPHA18965219139606822
HP:0001324HP:0001324Muscle weakness0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18965219139606822
HP:0001324HP:0001324Muscle weakness0POMGNT2 CL E G H84892899ORPHA1926325902614828
HP:0001324HP:0001324Muscle weakness0POMK CL E G H84197899ORPHA1818726267615247
HP:0001324HP:0001324Muscle weakness0POMT1 CL E G H10585899ORPHA1965999202607423
HP:0001324HP:0001324Muscle weakness0POMT2 CL E G H29954899ORPHA17559919743607439
HP:0001324HP:0001324Muscle weakness0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM11839430228609557
HP:0001324HP:0001324Muscle weakness0PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA14319380601639
HP:0001324HP:0001324Muscle weakness0PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11886189388188830
HP:0001324HP:0001324Muscle weakness0PRNP CL E G H5621282166ORPHA11091299449176640
HP:0001324HP:0001324Muscle weakness0PRPS1 CL E G H563199014ORPHA1322979462311850
HP:0001324HP:0001324Muscle weakness0PSAP CL E G H5660309271ORPHA1273889498176801
HP:0001324HP:0001324Muscle weakness0PSAP CL E G H5660309263ORPHA1273889498176801
HP:0001324HP:0001324Muscle weakness0PSAP CL E G H5660309256ORPHA1273889498176801
HP:0001324HP:0001324Muscle weakness0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM1273889498176801
HP:0001324HP:0001324Muscle weakness0PSMB8 CL E G H56962615ORPHA1111209545177046
HP:0001324HP:0001324Muscle weakness0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM1111209545177046
HP:0001324HP:0001324Muscle weakness0PTPN11 CL E G H5781648ORPHA11435549644176876
HP:0001324HP:0001324Muscle weakness0RAF1 CL E G H5894648ORPHA1546209829164760
HP:0001324HP:0001324Muscle weakness0RASA2 CL E G H5922648ORPHA131269872601589
HP:0001324HP:0001324Muscle weakness0RIT1 CL E G H6016648ORPHA12613510023609591
HP:0001324HP:0001324Muscle weakness0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM148518466604123
HP:0001324HP:0001324Muscle weakness0RRAS CL E G H6237648ORPHA1211010447165090
HP:0001324HP:0001324Muscle weakness0RXYLT1 CL E G H10329899ORPHA1815413530605862
HP:0001324HP:0001324Muscle weakness0SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM12070510583604385
HP:0001324HP:0001324Muscle weakness0SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1129105610591603967
HP:0001324HP:0001324Muscle weakness0SCNN1A CL E G H6337526Acute myeloblastic leukemia type 1ORPHA14920610599600228
HP:0001324HP:0001324Muscle weakness0SCNN1B CL E G H6338526Acute myeloblastic leukemia type 1ORPHA15019110600600760
HP:0001324HP:0001324Muscle weakness0SCNN1G CL E G H6340526Acute myeloblastic leukemia type 1ORPHA12315610602600761
HP:0001324HP:0001324Muscle weakness0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191153810680600857
HP:0001324HP:0001324Muscle weakness0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164633867612848
HP:0001324HP:0001324Muscle weakness0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117443810683602690
HP:0001324HP:0001324Muscle weakness0SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM12927323604061
HP:0001324HP:0001324Muscle weakness0SEPT9 CL E G H108012901Hypogonadotropic hypogonadism-anosmia, X-linkedORPHA12927323604061
HP:0001324HP:0001324Muscle weakness0SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM153010778606570
HP:0001324HP:0001324Muscle weakness0SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM1191608157601978
HP:0001324HP:0001324Muscle weakness0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM150477510912600968
HP:0001324HP:0001324Muscle weakness0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116165310969603377
HP:0001324HP:0001324Muscle weakness0SLC25A1 CL E G H6576618197MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC618197OMIM12446310979190315
HP:0001324HP:0001324Muscle weakness0SLC25A19 CL E G H60386613710Striatal necrosis, bilateral, and progressive polyneuropathy613710C3150973OMIM1812014409606521
HP:0001324HP:0001324Muscle weakness0SLC25A20 CL E G H788159ORPHA1421151421613698
HP:0001324HP:0001324Muscle weakness0SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM1421151421613698
HP:0001324HP:0001324Muscle weakness0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM126920662608744
HP:0001324HP:0001324Muscle weakness0SLC25A26 CL E G H115286616794Combined oxidative phosphorylation deficiency 28616794C4225206OMIM148020661611037
HP:0001324HP:0001324Muscle weakness0SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM11723825198610826
HP:0001324HP:0001324Muscle weakness0SLC26A4 CL E G H517295713ORPHA15648248818605646
HP:0001324HP:0001324Muscle weakness0SLC33A1 CL E G H9197612539Spastic paraplegia 42, autosomal dominant612539C2675528OMIM179495603690
HP:0001324HP:0001324Muscle weakness0SLC34A1 CL E G H6569613388Fanconi renotubular syndrome 2613388C3150652OMIM13127311019182309
HP:0001324HP:0001324Muscle weakness0SLC34A3 CL E G H142680157215ORPHA14028620305609826
HP:0001324HP:0001324Muscle weakness0SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM14028620305609826
HP:0001324HP:0001324Muscle weakness0SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM115030711027109270
HP:0001324HP:0001324Muscle weakness0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16740111065603593
HP:0001324HP:0001324Muscle weakness0SMARCB1 CL E G H659899966ORPHA111963711103601607
HP:0001324HP:0001324Muscle weakness0SMN1 CL E G H6606253550Spinal muscular atrophy, type II253550C0393538OMIM111220111117600354
HP:0001324HP:0001324Muscle weakness0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125460411120607608
HP:0001324HP:0001324Muscle weakness0SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM1712311132600322
HP:0001324HP:0001324Muscle weakness0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM121720611179147450
HP:0001324HP:0001324Muscle weakness0SOS1 CL E G H6654648ORPHA17582011187182530
HP:0001324HP:0001324Muscle weakness0SOS2 CL E G H6655648ORPHA1648411188601247
HP:0001324HP:0001324Muscle weakness0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM155411219182120
HP:0001324HP:0001324Muscle weakness0SPR CL E G H669770594ORPHA12512411257182125
HP:0001324HP:0001324Muscle weakness0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM1412928423615521
HP:0001324HP:0001324Muscle weakness0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM1947225439616830
HP:0001324HP:0001324Muscle weakness0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12329411581604649
HP:0001324HP:0001324Muscle weakness0TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM14129311653613441
HP:0001324HP:0001324Muscle weakness0TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM1357611766190180
HP:0001324HP:0001324Muscle weakness0TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM165223656607381
HP:0001324HP:0001324Muscle weakness0TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM145730883615533
HP:0001324HP:0001324Muscle weakness0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM168930760614726
HP:0001324HP:0001324Muscle weakness0TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM12512311909602643
HP:0001324HP:0001324Muscle weakness0TOR1AIP1 CL E G H26092617072Muscular dystrophy, limb-girdle, type 2y617072C4310731OMIM1525129456614512
HP:0001324HP:0001324Muscle weakness0TP53 CL E G H71571501ORPHA1541226811998191170
HP:0001324HP:0001324Muscle weakness0TRH CL E G H7200275120Hypothalamic hypothyroidism275120C0220998OMIM132612298613879
HP:0001324HP:0001324Muscle weakness0TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM1826215974614141
HP:0001324HP:0001324Muscle weakness0TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM145123141611023
HP:0001324HP:0001324Muscle weakness0TRMU CL E G H55687254864ORPHA12342925481610230
HP:0001324HP:0001324Muscle weakness0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM1718012367604723
HP:0001324HP:0001324Muscle weakness0TSHR CL E G H725395713ORPHA116119512373603372
HP:0001324HP:0001324Muscle weakness0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM11023226006613814
HP:0001324HP:0001324Muscle weakness0TTPA CL E G H727496ORPHA13021612404600415
HP:0001324HP:0001324Muscle weakness0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115128012405176300
HP:0001324HP:0001324Muscle weakness0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM1832151160606075
HP:0001324HP:0001324Muscle weakness0VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM16534512666601023
HP:0001324HP:0001324Muscle weakness0VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM11027612718602168
HP:0001324HP:0001324Muscle weakness0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM1145012730604733
HP:0001324HP:0001324Muscle weakness0XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM14118912811314850
HP:0001324HP:0001324Muscle weakness0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1138315517608125
HP:0001324HP:0001324Muscle weakness1A2ML1 CL E G H144568648ORPHA12173523336610627
HP:0001324HP:0001324Muscle weakness1AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM17911713666605378
HP:0001324HP:0001324Muscle weakness1ABCC8 CL E G H683379134ORPHA1661110859600509
HP:0001324HP:0001324Muscle weakness1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1661110859600509
HP:0001324HP:0001324Muscle weakness1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13917221396604780
HP:0001324HP:0001324Muscle weakness1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16142021497611103
HP:0001324HP:0001324Muscle weakness1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM128397092609575
HP:0001324HP:0001324Muscle weakness1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11563177104620
HP:0001324HP:0001324Muscle weakness1ADA2 CL E G H51816820ORPHA1553091839607575
HP:0001324HP:0001324Muscle weakness1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0001324HP:0001324Muscle weakness1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140339315604581
HP:0001324HP:0001324Muscle weakness1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12721921869610345
HP:0001324HP:0001324Muscle weakness1AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM12481295321610860
HP:0001324HP:0001324Muscle weakness1AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM1333988768300169
HP:0001324HP:0001324Muscle weakness1ALAS2 CL E G H21275563ORPHA1103269397301300
HP:0001324HP:0001324Muscle weakness1ALDH18A1 CL E G H5832447760ORPHA1333309722138250
HP:0001324HP:0001324Muscle weakness1ALS2 CL E G H57679247604ORPHA173515443606352
HP:0001324HP:0001324Muscle weakness1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173515443606352
HP:0001324HP:0001324Muscle weakness1AMPD1 CL E G H270615511Muscle AMP deaminase deficiency615511C0268123OMIM113134468102770
HP:0001324HP:0001324Muscle weakness1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14623015984606350
HP:0001324HP:0001324Muscle weakness1ARMC5 CL E G H79798189427ORPHA1558125781615549
HP:0001324HP:0001324Muscle weakness1ARSA CL E G H410309256ORPHA1254723713607574
HP:0001324HP:0001324Muscle weakness1ARSA CL E G H410309263ORPHA1254723713607574
HP:0001324HP:0001324Muscle weakness1ARSA CL E G H410309271ORPHA1254723713607574
HP:0001324HP:0001324Muscle weakness1ATP1A3 CL E G H4781171ORPHA1122597801182350
HP:0001324HP:0001324Muscle weakness1ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122597801182350
HP:0001324HP:0001324Muscle weakness1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001324HP:0001324Muscle weakness1ATP7A CL E G H538565ORPHA1357877869300011
HP:0001324HP:0001324Muscle weakness1ATXN7 CL E G H631494147ORPHA163610560607640
HP:0001324HP:0001324Muscle weakness1B3GALNT2 CL E G H148789899ORPHA11633628596610194
HP:0001324HP:0001324Muscle weakness1B4GALNT1 CL E G H2583101006ORPHA1131424117601873
HP:0001324HP:0001324Muscle weakness1B4GAT1 CL E G H11041899ORPHA1711915685605517
HP:0001324HP:0001324Muscle weakness1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1372461020603647
HP:0001324HP:0001324Muscle weakness1BRAF CL E G H673648ORPHA1685991097164757
HP:0001324HP:0001324Muscle weakness1C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM11126784613541
HP:0001324HP:0001324Muscle weakness1C19orf12 CL E G H83636289560ORPHA13823825443614297
HP:0001324HP:0001324Muscle weakness1C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM13823825443614297
HP:0001324HP:0001324Muscle weakness1C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM12416028337614260
HP:0001324HP:0001324Muscle weakness1CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM125119631388601011
HP:0001324HP:0001324Muscle weakness1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11195591497300172
HP:0001324HP:0001324Muscle weakness1CAV1 CL E G H857220393ORPHA113801527601047
HP:0001324HP:0001324Muscle weakness1CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM1532014153614666
HP:0001324HP:0001324Muscle weakness1CCN2 CL E G H1490220393ORPHA1222500121009
HP:0001324HP:0001324Muscle weakness1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18412771603400
HP:0001324HP:0001324Muscle weakness1CCR6 CL E G H1235220393ORPHA11481607601835
HP:0001324HP:0001324Muscle weakness1CEP126 CL E G H5756265684ORPHA112829264614634
HP:0001324HP:0001324Muscle weakness1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM191281875601443
HP:0001324HP:0001324Muscle weakness1CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM12720215559615903
HP:0001324HP:0001324Muscle weakness1CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM1112771961100710
HP:0001324HP:0001324Muscle weakness1CNNM2 CL E G H54805613882Hypomagnesemia 6, renal613882C3151295OMIM17169103607803
HP:0001324HP:0001324Muscle weakness1COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM11513092188120320
HP:0001324HP:0001324Muscle weakness1COL1A1 CL E G H1277287ORPHA196713442197120150
HP:0001324HP:0001324Muscle weakness1COL4A1 CL E G H1282899ORPHA11147842202120130
HP:0001324HP:0001324Muscle weakness1COL5A1 CL E G H1289287ORPHA115920322209120215
HP:0001324HP:0001324Muscle weakness1COL5A2 CL E G H1290287ORPHA1399982210120190
HP:0001324HP:0001324Muscle weakness1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15562244601683
HP:0001324HP:0001324Muscle weakness1CPLANE1 CL E G H6525065684ORPHA111880625801614571
HP:0001324HP:0001324Muscle weakness1CPT2 CL E G H1376228302ORPHA11135012330600650
HP:0001324HP:0001324Muscle weakness1CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM11135012330600650
HP:0001324HP:0001324Muscle weakness1CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0001324HP:0001324Muscle weakness1CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM166020580608713
HP:0001324HP:0001324Muscle weakness1D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM13333028358609186
HP:0001324HP:0001324Muscle weakness1DAG1 CL E G H1605899ORPHA1113732666128239
HP:0001324HP:0001324Muscle weakness1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16522025538610956
HP:0001324HP:0001324Muscle weakness1DMD CL E G H175698895ORPHA1397050242928300377
HP:0001324HP:0001324Muscle weakness1DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM1397050242928300377
HP:0001324HP:0001324Muscle weakness1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182352933605377
HP:0001324HP:0001324Muscle weakness1DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM167530528608977
HP:0001324HP:0001324Muscle weakness1DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM12503007605951
HP:0001324HP:0001324Muscle weakness1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11408153438609413
HP:0001324HP:0001324Muscle weakness1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1703093439609412
HP:0001324HP:0001324Muscle weakness1ERLIN2 CL E G H11160247604ORPHA1151351356611605
HP:0001324HP:0001324Muscle weakness1ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1302393481608053
HP:0001324HP:0001324Muscle weakness1ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151373482130410
HP:0001324HP:0001324Muscle weakness1ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11914243483231675
HP:0001324HP:0001324Muscle weakness1EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM137417035606019
HP:0001324HP:0001324Muscle weakness1EXT1 CL E G H2131321ORPHA15325143512608177
HP:0001324HP:0001324Muscle weakness1EXT2 CL E G H2132321ORPHA12583673513608210
HP:0001324HP:0001324Muscle weakness1FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM172424200615584
HP:0001324HP:0001324Muscle weakness1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM125030546614585
HP:0001324HP:0001324Muscle weakness1FGF23 CL E G H807489937ORPHA1201583680605380
HP:0001324HP:0001324Muscle weakness1FKRP CL E G H79147899ORPHA114156517997606596
HP:0001324HP:0001324Muscle weakness1FKTN CL E G H2218899ORPHA1595893622607440
HP:0001324HP:0001324Muscle weakness1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1595893622607440
HP:0001324HP:0001324Muscle weakness1FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM111423183756102565
HP:0001324HP:0001324Muscle weakness1FMR1 CL E G H233293256ORPHA1813113775309550
HP:0001324HP:0001324Muscle weakness1FOXC2 CL E G H230333001ORPHA1971093801602402
HP:0001324HP:0001324Muscle weakness1FOXE1 CL E G H230495713ORPHA131683806602617
HP:0001324HP:0001324Muscle weakness1FXN CL E G H239595ORPHA1661303951606829
HP:0001324HP:0001324Muscle weakness1GBE1 CL E G H2632206583ORPHA1744124180607839
HP:0001324HP:0001324Muscle weakness1GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1744124180607839
HP:0001324HP:0001324Muscle weakness1GCK CL E G H264579299ORPHA18485514195138079
HP:0001324HP:0001324Muscle weakness1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18485514195138079
HP:0001324HP:0001324Muscle weakness1GJA1 CL E G H26972710Hm syndromeORPHA11091624274121014
HP:0001324HP:0001324Muscle weakness1GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM14919722932615320
HP:0001324HP:0001324Muscle weakness1GNAS CL E G H2778189427ORPHA12793134392139320
HP:0001324HP:0001324Muscle weakness1GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM142674458172400
HP:0001324HP:0001324Muscle weakness1GYG1 CL E G H2992613507Glycogen storage disease XV613507C3150754OMIM1161104699603942
HP:0001324HP:0001324Muscle weakness1HAMP CL E G H5781779230ORPHA1165215598606464
HP:0001324HP:0001324Muscle weakness1HBB CL E G H3043231214ORPHA187112684827141900
HP:0001324HP:0001324Muscle weakness1HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11263574879606873
HP:0001324HP:0001324Muscle weakness1HJV CL E G H14873879230ORPHA1583324887608374
HP:0001324HP:0001324Muscle weakness1HLA-B CL E G H31063287ORPHA153174932142830
HP:0001324HP:0001324Muscle weakness1HLA-DRB1 CL E G H3123220393ORPHA126244948142857
HP:0001324HP:0001324Muscle weakness1HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232414982609806
HP:0001324HP:0001324Muscle weakness1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM16712925273142461
HP:0001324HP:0001324Muscle weakness1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12846218873606951
HP:0001324HP:0001324Muscle weakness1IFRD1 CL E G H347598771ORPHA13505456603502
HP:0001324HP:0001324Muscle weakness1IL12B CL E G H35933287ORPHA1191345970161561
HP:0001324HP:0001324Muscle weakness1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831286081176730
HP:0001324HP:0001324Muscle weakness1IRF5 CL E G H3663220393ORPHA110396120607218
HP:0001324HP:0001324Muscle weakness1ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM138229882611911
HP:0001324HP:0001324Muscle weakness1ISPD CL E G H729920899ORPHA153637276614631
HP:0001324HP:0001324Muscle weakness1ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM153637276614631
HP:0001324HP:0001324Muscle weakness1ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM1105066143600536
HP:0001324HP:0001324Muscle weakness1KAT6B CL E G H23522648ORPHA17635917582605880
HP:0001324HP:0001324Muscle weakness1KCNJ11 CL E G H376779134ORPHA11872986257600937
HP:0001324HP:0001324Muscle weakness1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872986257600937
HP:0001324HP:0001324Muscle weakness1KLHL41 CL E G H10324615731Nemaline myopathy 9615731C3810384OMIM1915316905607701
HP:0001324HP:0001324Muscle weakness1KRAS CL E G H3845648ORPHA1453296407190070
HP:0001324HP:0001324Muscle weakness1L1CAM CL E G H38971497Congenital mixovirusORPHA12936206470308840
HP:0001324HP:0001324Muscle weakness1LARGE1 CL E G H9215899ORPHA1285136511603590
HP:0001324HP:0001324Muscle weakness1LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM1416516084607908
HP:0001324HP:0001324Muscle weakness1LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM157413316636150330
HP:0001324HP:0001324Muscle weakness1LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM12931613345605518
HP:0001324HP:0001324Muscle weakness1LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM1345266696604270
HP:0001324HP:0001324Muscle weakness1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM196228072615831
HP:0001324HP:0001324Muscle weakness1LZTR1 CL E G H8216648ORPHA1869006742600574
HP:0001324HP:0001324Muscle weakness1MLX CL E G H69453287ORPHA112011645602976
HP:0001324HP:0001324Muscle weakness1MPZ CL E G H4359101082ORPHA12464887225159440
HP:0001324HP:0001324Muscle weakness1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM185729678617619
HP:0001324HP:0001324Muscle weakness1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0001324HP:0001324Muscle weakness1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0001324HP:0001324Muscle weakness1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0001324HP:0001324Muscle weakness1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0001324HP:0001324Muscle weakness1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0001324HP:0001324Muscle weakness1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0001324HP:0001324Muscle weakness1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0001324HP:0001324Muscle weakness1MT-TE CL E G H4556254864ORPHA17479590025
HP:0001324HP:0001324Muscle weakness1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0001324HP:0001324Muscle weakness1MT-TF CL E G H4558550ORPHA17481590070
HP:0001324HP:0001324Muscle weakness1MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001324HP:0001324Muscle weakness1MT-TH CL E G H4564550ORPHA17487590040
HP:0001324HP:0001324Muscle weakness1MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001324HP:0001324Muscle weakness1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001324HP:0001324Muscle weakness1MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001324HP:0001324Muscle weakness1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0001324HP:0001324Muscle weakness1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0001324HP:0001324Muscle weakness1MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001324HP:0001324Muscle weakness1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0001324HP:0001324Muscle weakness1MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001324HP:0001324Muscle weakness1MT-TQ CL E G H4572550ORPHA17495590030
HP:0001324HP:0001324Muscle weakness1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0001324HP:0001324Muscle weakness1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0001324HP:0001324Muscle weakness1MT-TW CL E G H4578550ORPHA17501590095
HP:0001324HP:0001324Muscle weakness1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001324HP:0001324Muscle weakness1MTHFR CL E G H4524236250Homocysteinemia due to MTHFR deficiency236250C1856058OMIM11334077436607093
HP:0001324HP:0001324Muscle weakness1MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1454317573160720
HP:0001324HP:0001324Muscle weakness1MYO9A CL E G H4649618198MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC618198OMIM161647608604875
HP:0001324HP:0001324Muscle weakness1NAGA CL E G H466879279ORPHA1111567631104170
HP:0001324HP:0001324Muscle weakness1NEU1 CL E G H4758812ORPHA1641107758608272
HP:0001324HP:0001324Muscle weakness1NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641107758608272
HP:0001324HP:0001324Muscle weakness1NF1 CL E G H4763601321Neurofibromatosis-Noonan syndrome601321C2931482OMIM1301179527765613113
HP:0001324HP:0001324Muscle weakness1NFU1 CL E G H27247605711Multiple mitochondrial dysfunctions syndrome 1605711C3276432OMIM11511416287608100
HP:0001324HP:0001324Muscle weakness1NKX2-1 CL E G H708095713ORPHA114316311825600635
HP:0001324HP:0001324Muscle weakness1NKX2-5 CL E G H148295713ORPHA11122802488600584
HP:0001324HP:0001324Muscle weakness1NKX2-5 CL E G H148295712ORPHA11122802488600584
HP:0001324HP:0001324Muscle weakness1NRAS CL E G H4893648ORPHA1142067989164790
HP:0001324HP:0001324Muscle weakness1OPTN CL E G H10133613435Amyotrophic lateral sclerosis type 12613435C3150692OMIM17223517142602432
HP:0001324HP:0001324Muscle weakness1PAX8 CL E G H784995713ORPHA1511838622167415
HP:0001324HP:0001324Muscle weakness1PAX8 CL E G H784995712ORPHA1511838622167415
HP:0001324HP:0001324Muscle weakness1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1201258773604961
HP:0001324HP:0001324Muscle weakness1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1111378794603390
HP:0001324HP:0001324Muscle weakness1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM133996107600733
HP:0001324HP:0001324Muscle weakness1PEX11B CL E G H8799614920Peroxisome biogenesis disorder 14B614920C3554055OMIM182818853603867
HP:0001324HP:0001324Muscle weakness1PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM1102328855601789
HP:0001324HP:0001324Muscle weakness1PEX5 CL E G H5830616716Rhizomelic chondrodysplasia punctata type 5616716C4225237OMIM1144039719600414
HP:0001324HP:0001324Muscle weakness1PFKM CL E G H5213232800Glycogen storage disease, type VII232800C0017926OMIM1273378877610681
HP:0001324HP:0001324Muscle weakness1PFKM CL E G H5213371Qazi Markouizos syndromeORPHA1273378877610681
HP:0001324HP:0001324Muscle weakness1PFN1 CL E G H5216614808Amyotrophic lateral sclerosis 18614808C3553719OMIM19698881176610
HP:0001324HP:0001324Muscle weakness1PGM1 CL E G H5236614921Congenital disorder of glycosylation type 1t614921C2752015OMIM1352278905171900
HP:0001324HP:0001324Muscle weakness1PHKA1 CL E G H5255300559Glycogen storage disease IXd300559C1845151OMIM183468925311870
HP:0001324HP:0001324Muscle weakness1PHKB CL E G H5257261750Glycogen storage disease IXb261750C0543514OMIM1262768927172490
HP:0001324HP:0001324Muscle weakness1PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM124430035611317
HP:0001324HP:0001324Muscle weakness1PLP1 CL E G H535499015ORPHA13523289086300401
HP:0001324HP:0001324Muscle weakness1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11294849115601785
HP:0001324HP:0001324Muscle weakness1PMP22 CL E G H5376162500Hereditary liability to pressure palsies162500C0393814OMIM11653859118601097
HP:0001324HP:0001324Muscle weakness1PNPLA8 CL E G H50640251950Mitochondrial myopathy with lactic acidosis251950C1855033OMIM165128900612123
HP:0001324HP:0001324Muscle weakness1POMGNT1 CL E G H55624899ORPHA18965219139606822
HP:0001324HP:0001324Muscle weakness1POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18965219139606822
HP:0001324HP:0001324Muscle weakness1POMGNT2 CL E G H84892899ORPHA1926325902614828
HP:0001324HP:0001324Muscle weakness1POMK CL E G H84197899ORPHA1818726267615247
HP:0001324HP:0001324Muscle weakness1POMT1 CL E G H10585899ORPHA1965999202607423
HP:0001324HP:0001324Muscle weakness1POMT2 CL E G H29954899ORPHA17559919743607439
HP:0001324HP:0001324Muscle weakness1PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM11839430228609557
HP:0001324HP:0001324Muscle weakness1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA14319380601639
HP:0001324HP:0001324Muscle weakness1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11886189388188830
HP:0001324HP:0001324Muscle weakness1PRNP CL E G H5621282166ORPHA11091299449176640
HP:0001324HP:0001324Muscle weakness1PRPS1 CL E G H563199014ORPHA1322979462311850
HP:0001324HP:0001324Muscle weakness1PSAP CL E G H5660309263ORPHA1273889498176801
HP:0001324HP:0001324Muscle weakness1PSAP CL E G H5660309256ORPHA1273889498176801
HP:0001324HP:0001324Muscle weakness1PSAP CL E G H5660309271ORPHA1273889498176801
HP:0001324HP:0001324Muscle weakness1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM1273889498176801
HP:0001324HP:0001324Muscle weakness1PSMB8 CL E G H56962615ORPHA1111209545177046
HP:0001324HP:0001324Muscle weakness1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM1111209545177046
HP:0001324HP:0001324Muscle weakness1PTPN11 CL E G H5781648ORPHA11435549644176876
HP:0001324HP:0001324Muscle weakness1RAF1 CL E G H5894648ORPHA1546209829164760
HP:0001324HP:0001324Muscle weakness1RASA2 CL E G H5922648ORPHA131269872601589
HP:0001324HP:0001324Muscle weakness1RIT1 CL E G H6016648ORPHA12613510023609591
HP:0001324HP:0001324Muscle weakness1RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM148518466604123
HP:0001324HP:0001324Muscle weakness1RRAS CL E G H6237648ORPHA1211010447165090
HP:0001324HP:0001324Muscle weakness1RXYLT1 CL E G H10329899ORPHA1815413530605862
HP:0001324HP:0001324Muscle weakness1SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM12070510583604385
HP:0001324HP:0001324Muscle weakness1SCN4A CL E G H6329168300Paramyotonia congenita of von Eulenburg168300C0221055OMIM1129105610591603967
HP:0001324HP:0001324Muscle weakness1SCNN1A CL E G H6337526Acute myeloblastic leukemia type 1ORPHA14920610599600228
HP:0001324HP:0001324Muscle weakness1SCNN1B CL E G H6338526Acute myeloblastic leukemia type 1ORPHA15019110600600760
HP:0001324HP:0001324Muscle weakness1SCNN1G CL E G H6340526Acute myeloblastic leukemia type 1ORPHA12315610602600761
HP:0001324HP:0001324Muscle weakness1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM191153810680600857
HP:0001324HP:0001324Muscle weakness1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM164633867612848
HP:0001324HP:0001324Muscle weakness1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM117443810683602690
HP:0001324HP:0001324Muscle weakness1SEPT9 CL E G H10801162100Amyotrophy, hereditary neuralgic162100C1834304OMIM12927323604061
HP:0001324HP:0001324Muscle weakness1SEPT9 CL E G H108012901Hypogonadotropic hypogonadism-anosmia, X-linkedORPHA12927323604061
HP:0001324HP:0001324Muscle weakness1SFRP4 CL E G H6424265900Pyle metaphyseal dysplasia265900C0265294OMIM153010778606570
HP:0001324HP:0001324Muscle weakness1SIGMAR1 CL E G H10280614373Amyotrophic lateral sclerosis 16, juvenile614373C3280587OMIM1191608157601978
HP:0001324HP:0001324Muscle weakness1SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM150477510912600968
HP:0001324HP:0001324Muscle weakness1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM116165310969603377
HP:0001324HP:0001324Muscle weakness1SLC25A1 CL E G H6576618197MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC618197OMIM12446310979190315
HP:0001324HP:0001324Muscle weakness1SLC25A19 CL E G H60386613710Striatal necrosis, bilateral, and progressive polyneuropathy613710C3150973OMIM1812014409606521
HP:0001324HP:0001324Muscle weakness1SLC25A20 CL E G H788159ORPHA1421151421613698
HP:0001324HP:0001324Muscle weakness1SLC25A20 CL E G H788212138Carnitine acylcarnitine translocase deficiency212138C0342791OMIM1421151421613698
HP:0001324HP:0001324Muscle weakness1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM126920662608744
HP:0001324HP:0001324Muscle weakness1SLC25A26 CL E G H115286616794Combined oxidative phosphorylation deficiency 28616794C4225206OMIM148020661611037
HP:0001324HP:0001324Muscle weakness1SLC25A46 CL E G H91137616505NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB616505C4225302OMIM11723825198610826
HP:0001324HP:0001324Muscle weakness1SLC26A4 CL E G H517295713ORPHA15648248818605646
HP:0001324HP:0001324Muscle weakness1SLC33A1 CL E G H9197612539Spastic paraplegia 42, autosomal dominant612539C2675528OMIM179495603690
HP:0001324HP:0001324Muscle weakness1SLC34A1 CL E G H6569613388Fanconi renotubular syndrome 2613388C3150652OMIM13127311019182309
HP:0001324HP:0001324Muscle weakness1SLC34A3 CL E G H142680157215ORPHA14028620305609826
HP:0001324HP:0001324Muscle weakness1SLC34A3 CL E G H142680241530Autosomal recessive hypophosphatemic bone disease241530C1853271OMIM14028620305609826
HP:0001324HP:0001324Muscle weakness1SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM115030711027109270
HP:0001324HP:0001324Muscle weakness1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16740111065603593
HP:0001324HP:0001324Muscle weakness1SMARCB1 CL E G H659899966ORPHA111963711103601607
HP:0001324HP:0001324Muscle weakness1SMN1 CL E G H6606253550Spinal muscular atrophy, type II253550C0393538OMIM111220111117600354
HP:0001324HP:0001324Muscle weakness1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM125460411120607608
HP:0001324HP:0001324Muscle weakness1SNAP25 CL E G H6616616330Myasthenic syndrome, congenital, 18616330C4225364OMIM1712311132600322
HP:0001324HP:0001324Muscle weakness1SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM121720611179147450
HP:0001324HP:0001324Muscle weakness1SOS1 CL E G H6654648ORPHA17582011187182530
HP:0001324HP:0001324Muscle weakness1SOS2 CL E G H6655648ORPHA1648411188601247
HP:0001324HP:0001324Muscle weakness1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM155411219182120
HP:0001324HP:0001324Muscle weakness1SPR CL E G H669770594ORPHA12512411257182125
HP:0001324HP:0001324Muscle weakness1STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM1412928423615521
HP:0001324HP:0001324Muscle weakness1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM1947225439616830
HP:0001324HP:0001324Muscle weakness1TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM12329411581604649
HP:0001324HP:0001324Muscle weakness1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM14129311653613441
HP:0001324HP:0001324Muscle weakness1TGFB1 CL E G H7040131300Diaphyseal dysplasia131300C0011989OMIM1357611766190180
HP:0001324HP:0001324Muscle weakness1TIMM50 CL E G H926096176983-METHYLGLUTACONIC ACIDURIA, TYPE IX617698C4540171OMIM165223656607381
HP:0001324HP:0001324Muscle weakness1TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM145730883615533
HP:0001324HP:0001324Muscle weakness1TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM168930760614726
HP:0001324HP:0001324Muscle weakness1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM12512311909602643
HP:0001324HP:0001324Muscle weakness1TOR1AIP1 CL E G H26092617072Muscular dystrophy, limb-girdle, type 2y617072C4310731OMIM1525129456614512
HP:0001324HP:0001324Muscle weakness1TP53 CL E G H71571501ORPHA1541226811998191170
HP:0001324HP:0001324Muscle weakness1TRH CL E G H7200275120Hypothalamic hypothyroidism275120C0220998OMIM132612298613879
HP:0001324HP:0001324Muscle weakness1TRIM2 CL E G H23321615490Charcot-Marie-Tooth disease, axonal, type 2R615490C3809655OMIM1826215974614141
HP:0001324HP:0001324Muscle weakness1TRMT5 CL E G H57570616539Combined oxidative phosphorylation deficiency 26616539C4225290OMIM145123141611023
HP:0001324HP:0001324Muscle weakness1TRMU CL E G H55687254864ORPHA12342925481610230
HP:0001324HP:0001324Muscle weakness1TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM1718012367604723
HP:0001324HP:0001324Muscle weakness1TSHR CL E G H725395713ORPHA116119512373603372
HP:0001324HP:0001324Muscle weakness1TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM11023226006613814
HP:0001324HP:0001324Muscle weakness1TTPA CL E G H727496ORPHA13021612404600415
HP:0001324HP:0001324Muscle weakness1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115128012405176300
HP:0001324HP:0001324Muscle weakness1TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM1832151160606075
HP:0001324HP:0001324Muscle weakness1VCP CL E G H7415613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia613954C3151403OMIM16534512666601023
HP:0001324HP:0001324Muscle weakness1VRK1 CL E G H7443607596Pontocerebellar hypoplasia type 1A607596CN032785OMIM11027612718602168
HP:0001324HP:0001324Muscle weakness1WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM1145012730604733
HP:0001324HP:0001324Muscle weakness1XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM14118912811314850
HP:0001324HP:0001324Muscle weakness1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1138315517608125
HP:0001324HP:0001324Muscle weakness2A2ML1 CL E G H144568648ORPHA12173523336610627
HP:0001324HP:0001324Muscle weakness2AAAS CL E G H8086231550Glucocorticoid deficiency with achalasia231550C0271742OMIM17911713666605378
HP:0001324HP:0001324Muscle weakness2ABCC8 CL E G H683379134ORPHA1661110859600509
HP:0001324HP:0001324Muscle weakness2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1661110859600509
HP:0001324HP:0001324Muscle weakness2ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13917221396604780
HP:0001324HP:0001324Muscle weakness2ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM16142021497611103
HP:0001324HP:0001324Muscle weakness2ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM128397092609575
HP:0001324HP:0001324Muscle weakness2ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11563177104620
HP:0001324HP:0001324Muscle weakness2ADA2 CL E G H51816820ORPHA1553091839607575
HP:0001324HP:0001324Muscle weakness2ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM1621304610624
HP:0001324HP:0001324Muscle weakness2AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM140339315604581
HP:0001324HP:0001324Muscle weakness2AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12721921869610345
HP:0001324HP:0001324Muscle weakness2AGL CL E G H178232400Glycogen storage disease type III232400C0017922OMIM12481295321610860
HP:0001324HP:0001324Muscle weakness2AIFM1 CL E G H9131310490Cowchock syndrome310490C0795910OMIM1333988768300169
HP:0001324HP:0001324Muscle weakness2ALAS2 CL E G H21275563ORPHA1103269397301300
HP:0001324HP:0001324Muscle weakness2ALDH18A1 CL E G H5832447760ORPHA1333309722138250
HP:0001324HP:0001324Muscle weakness2ALS2 CL E G H57679247604ORPHA173515443606352
HP:0001324HP:0001324Muscle weakness2ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173515443606352
HP:0001324HP:0001324Muscle weakness2AMPD1 CL E G H270615511Muscle AMP deaminase deficiency615511C0268123OMIM113134468102770
HP:0001324HP:0001324Muscle weakness2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM14623015984606350
HP:0001324HP:0001324Muscle weakness2ARMC5 CL E G H79798189427ORPHA1558125781615549
HP:0001324HP:0001324Muscle weakness2ARSA CL E G H410309271ORPHA1254723713607574
HP:0001324HP:0001324Muscle weakness2ARSA CL E G H410309256ORPHA1254723713607574
HP:0001324HP:0001324Muscle weakness2ARSA CL E G H410309263ORPHA1254723713607574
HP:0001324HP:0001324Muscle weakness2ATP1A3 CL E G H4781171ORPHA1122597801182350
HP:0001324HP:0001324Muscle weakness2ATP1A3 CL E G H478601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss601338C1832466OMIM1122597801182350
HP:0001324HP:0001324Muscle weakness2ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001324HP:0001324Muscle weakness2ATP7A CL E G H538565ORPHA1357877869300011
HP:0001324HP:0001324Muscle weakness2ATXN7 CL E G H631494147ORPHA163610560607640
HP:0001324HP:0001324Muscle weakness2B3GALNT2 CL E G H148789899ORPHA11633628596610194
HP:0001324HP:0001324Muscle weakness2B4GALNT1 CL E G H2583101006ORPHA1131424117601873
HP:0001324HP:0001324Muscle weakness2B4GAT1 CL E G H11041899ORPHA1711915685605517
HP:0001324HP:0001324Muscle weakness2BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1372461020603647
HP:0001324HP:0001324Muscle weakness2BRAF CL E G H673648ORPHA1685991097164757
HP:0001324HP:0001324Muscle weakness2C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM11126784613541
HP:0001324HP:0001324Muscle weakness2C19orf12 CL E G H83636289560ORPHA13823825443614297
HP:0001324HP:0001324Muscle weakness2C19orf12 CL E G H83636615043Spastic paraplegia 43, autosomal recessive615043C2680446OMIM13823825443614297
HP:0001324HP:0001324Muscle weakness2C9orf72 CL E G H203228105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1105550C1862937OMIM12416028337614260
HP:0001324HP:0001324Muscle weakness2CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM125119631388601011
HP:0001324HP:0001324Muscle weakness2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM11195591497300172
HP:0001324HP:0001324Muscle weakness2CAV1 CL E G H857220393ORPHA113801527601047
HP:0001324HP:0001324Muscle weakness2CCDC78 CL E G H124093614807Myopathy, centronuclear, 4614807C3553709OMIM1532014153614666
HP:0001324HP:0001324Muscle weakness2CCN2 CL E G H1490220393ORPHA1222500121009
HP:0001324HP:0001324Muscle weakness2CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18412771603400
HP:0001324HP:0001324Muscle weakness2CCR6 CL E G H1235220393ORPHA11481607601835
HP:0001324HP:0001324Muscle weakness2CEP126 CL E G H5756265684ORPHA112829264614634
HP:0001324HP:0001324Muscle weakness2CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM191281875601443
HP:0001324HP:0001324Muscle weakness2CHCHD10 CL E G H400916615048Spinal muscular atrophy, jokela type615048C3554398OMIM12720215559615903
HP:0001324HP:0001324Muscle weakness2CHRNB1 CL E G H1140616314Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency616314C4225373OMIM1112771961100710
HP:0001324HP:0001324Muscle weakness2CNNM2 CL E G H54805613882Hypomagnesemia 6, renal613882C3151295OMIM17169103607803
HP:0001324HP:0001324Muscle weakness2COL12A1 CL E G H1303616471Bethlem myopathy 2616471C4225313OMIM11513092188120320
HP:0001324HP:0001324Muscle weakness2COL1A1 CL E G H1277287ORPHA196713442197120150
HP:0001324HP:0001324Muscle weakness2COL4A1 CL E G H1282899ORPHA11147842202120130
HP:0001324HP:0001324Muscle weakness2COL5A1 CL E G H1289287ORPHA115920322209120215
HP:0001324HP:0001324Muscle weakness2COL5A2 CL E G H1290287ORPHA1399982210120190
HP:0001324HP:0001324Muscle weakness2COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15562244601683
HP:0001324HP:0001324Muscle weakness2CPLANE1 CL E G H6525065684ORPHA111880625801614571
HP:0001324HP:0001324Muscle weakness2CPT2 CL E G H1376228302ORPHA11135012330600650
HP:0001324HP:0001324Muscle weakness2CPT2 CL E G H1376255110Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced255110C1833508OMIM11135012330600650
HP:0001324HP:0001324Muscle weakness2CYP27A1 CL E G H1593909ORPHA11164392605606530
HP:0001324HP:0001324Muscle weakness2CYP2R1 CL E G H120227600081Vitamin d hydroxylation-deficient rickets, type 1b600081C1838657OMIM166020580608713
HP:0001324HP:0001324Muscle weakness2D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM13333028358609186
HP:0001324HP:0001324Muscle weakness2DAG1 CL E G H1605899ORPHA1113732666128239
HP:0001324HP:0001324Muscle weakness2DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16522025538610956
HP:0001324HP:0001324Muscle weakness2DMD CL E G H175698895ORPHA1397050242928300377
HP:0001324HP:0001324Muscle weakness2DMD CL E G H1756300376Becker muscular dystrophy300376C0917713OMIM1397050242928300377
HP:0001324HP:0001324Muscle weakness2DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM182352933605377
HP:0001324HP:0001324Muscle weakness2DNAJC19 CL E G H1311186101983-methylglutaconic aciduria type V610198C1857776OMIM167530528608977
HP:0001324HP:0001324Muscle weakness2DPM3 CL E G H54344612937Congenital disorder of glycosylation type 1O612937C2752007OMIM12503007605951
HP:0001324HP:0001324Muscle weakness2ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11408153438609413
HP:0001324HP:0001324Muscle weakness2ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1703093439609412
HP:0001324HP:0001324Muscle weakness2ERLIN2 CL E G H11160247604ORPHA1151351356611605
HP:0001324HP:0001324Muscle weakness2ETFA CL E G H2108231680Glutaric aciduria, type 2231680C0268596OMIM1302393481608053
HP:0001324HP:0001324Muscle weakness2ETFB CL E G H2109231680Glutaric aciduria, type 2231680C0268596OMIM1151373482130410
HP:0001324HP:0001324Muscle weakness2ETFDH CL E G H2110231680Glutaric aciduria, type 2231680C0268596OMIM11914243483231675
HP:0001324HP:0001324Muscle weakness2EXOSC8 CL E G H11340616081Pontocerebellar hypoplasia, type 1c616081C4015160OMIM137417035606019
HP:0001324HP:0001324Muscle weakness2EXT1 CL E G H2131321ORPHA15325143512608177
HP:0001324HP:0001324Muscle weakness2EXT2 CL E G H2132321ORPHA12583673513608210
HP:0001324HP:0001324Muscle weakness2FAM111B CL E G H374393615704Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis615704C3810325OMIM172424200615584
HP:0001324HP:0001324Muscle weakness2FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM125030546614585
HP:0001324HP:0001324Muscle weakness2FGF23 CL E G H807489937ORPHA1201583680605380
HP:0001324HP:0001324Muscle weakness2FKRP CL E G H79147899ORPHA114156517997606596
HP:0001324HP:0001324Muscle weakness2FKTN CL E G H2218899ORPHA1595893622607440
HP:0001324HP:0001324Muscle weakness2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1595893622607440
HP:0001324HP:0001324Muscle weakness2FLNC CL E G H2318614065Myopathy, distal, 4614065C3279722OMIM111423183756102565
HP:0001324HP:0001324Muscle weakness2FMR1 CL E G H233293256ORPHA1813113775309550
HP:0001324HP:0001324Muscle weakness2FOXC2 CL E G H230333001ORPHA1971093801602402
HP:0001324HP:0001324Muscle weakness2FOXE1 CL E G H230495713ORPHA131683806602617
HP:0001324HP:0001324Muscle weakness2FXN CL E G H239595ORPHA1661303951606829
HP:0001324HP:0001324Muscle weakness2GBE1 CL E G H2632206583ORPHA1744124180607839
HP:0001324HP:0001324Muscle weakness2GBE1 CL E G H2632232500Glycogen storage disease, type IV232500C0017923OMIM1744124180607839
HP:0001324HP:0001324Muscle weakness2GCK CL E G H264579299ORPHA18485514195138079
HP:0001324HP:0001324Muscle weakness2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18485514195138079
HP:0001324HP:0001324Muscle weakness2GJA1 CL E G H26972710Hm syndromeORPHA11091624274121014
HP:0001324HP:0001324Muscle weakness2GMPPB CL E G H29925615350Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14615350C3809216OMIM14919722932615320
HP:0001324HP:0001324Muscle weakness2GNAS CL E G H2778189427ORPHA12793134392139320
HP:0001324HP:0001324Muscle weakness2GPI CL E G H2821613470Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency613470C3150730OMIM142674458172400
HP:0001324HP:0001324Muscle weakness2GYG1 CL E G H2992613507Glycogen storage disease XV613507C3150754OMIM1161104699603942
HP:0001324HP:0001324Muscle weakness2HAMP CL E G H5781779230ORPHA1165215598606464
HP:0001324HP:0001324Muscle weakness2HBB CL E G H3043231214ORPHA187112684827141900
HP:0001324HP:0001324Muscle weakness2HEXB CL E G H3074268800Sandhoff disease268800C0036161OMIM11263574879606873
HP:0001324HP:0001324Muscle weakness2HJV CL E G H14873879230ORPHA1583324887608374
HP:0001324HP:0001324Muscle weakness2HLA-B CL E G H31063287ORPHA153174932142830
HP:0001324HP:0001324Muscle weakness2HLA-DRB1 CL E G H3123220393ORPHA126244948142857
HP:0001324HP:0001324Muscle weakness2HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232414982609806
HP:0001324HP:0001324Muscle weakness2HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM16712925273142461
HP:0001324HP:0001324Muscle weakness2IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM12846218873606951
HP:0001324HP:0001324Muscle weakness2IFRD1 CL E G H347598771ORPHA13505456603502
HP:0001324HP:0001324Muscle weakness2IL12B CL E G H35933287ORPHA1191345970161561
HP:0001324HP:0001324Muscle weakness2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831286081176730
HP:0001324HP:0001324Muscle weakness2IRF5 CL E G H3663220393ORPHA110396120607218
HP:0001324HP:0001324Muscle weakness2ISCU CL E G H23479255125Myopathy with lactic acidosis, hereditary255125C1850718OMIM138229882611911
HP:0001324HP:0001324Muscle weakness2ISPD CL E G H729920899ORPHA153637276614631
HP:0001324HP:0001324Muscle weakness2ISPD CL E G H729920616052Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7616052C4015095OMIM153637276614631
HP:0001324HP:0001324Muscle weakness2ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM1105066143600536
HP:0001324HP:0001324Muscle weakness2KAT6B CL E G H23522648ORPHA17635917582605880
HP:0001324HP:0001324Muscle weakness2KCNJ11 CL E G H376779134ORPHA11872986257600937
HP:0001324HP:0001324Muscle weakness2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872986257600937
HP:0001324HP:0001324Muscle weakness2KLHL41 CL E G H10324615731Nemaline myopathy 9615731C3810384OMIM1915316905607701
HP:0001324HP:0001324Muscle weakness2KRAS CL E G H3845648ORPHA1453296407190070
HP:0001324HP:0001324Muscle weakness2L1CAM CL E G H38971497Congenital mixovirusORPHA12936206470308840
HP:0001324HP:0001324Muscle weakness2LARGE1 CL E G H9215899ORPHA1285136511603590
HP:0001324HP:0001324Muscle weakness2LIMS2 CL E G H55679616827Muscular dystrophy, limb-girdle, type 2W616827C4225192OMIM1416516084607908
HP:0001324HP:0001324Muscle weakness2LMNA CL E G H4000616516Emery-Dreifuss muscular dystrophy 3, autosomal recessive616516C2750035OMIM157413316636150330
HP:0001324HP:0001324Muscle weakness2LPIN1 CL E G H23175268200Myoglobinuria, acute recurrent, autosomal recessive268200C1849386OMIM12931613345605518
HP:0001324HP:0001324Muscle weakness2LRP4 CL E G H4038616304Myasthenic syndrome, congenital, 17616304C4225377OMIM1345266696604270
HP:0001324HP:0001324Muscle weakness2LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM196228072615831
HP:0001324HP:0001324Muscle weakness2LZTR1 CL E G H8216648ORPHA1869006742600574
HP:0001324HP:0001324Muscle weakness2MLX CL E G H69453287ORPHA112011645602976
HP:0001324HP:0001324Muscle weakness2MPZ CL E G H4359101082ORPHA12464887225159440
HP:0001324HP:0001324Muscle weakness2MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM185729678617619
HP:0001324HP:0001324Muscle weakness2MT-CO1 CL E G H4512550ORPHA17419516030
HP:0001324HP:0001324Muscle weakness2MT-CO2 CL E G H4513550ORPHA17421516040
HP:0001324HP:0001324Muscle weakness2MT-CO3 CL E G H4514550ORPHA17422516050
HP:0001324HP:0001324Muscle weakness2MT-ND1 CL E G H4535550ORPHA17455516000
HP:0001324HP:0001324Muscle weakness2MT-ND4 CL E G H4538550ORPHA17459516003
HP:0001324HP:0001324Muscle weakness2MT-ND5 CL E G H4540550ORPHA17461516005
HP:0001324HP:0001324Muscle weakness2MT-ND6 CL E G H4541550ORPHA17462516006
HP:0001324HP:0001324Muscle weakness2MT-TE CL E G H4556254864ORPHA17479590025
HP:0001324HP:0001324Muscle weakness2MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0001324HP:0001324Muscle weakness2MT-TF CL E G H4558550ORPHA17481590070
HP:0001324HP:0001324Muscle weakness2MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001324HP:0001324Muscle weakness2MT-TH CL E G H4564550ORPHA17487590040
HP:0001324HP:0001324Muscle weakness2MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001324HP:0001324Muscle weakness2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001324HP:0001324Muscle weakness2MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001324HP:0001324Muscle weakness2MT-TK CL E G H4566225Radial ray agenesisORPHA17489