Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001324	HP:0001324	Muscle weakness	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0001324	HP:0001324	Muscle weakness	0	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0001324	HP:0001324	Muscle weakness	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001324	HP:0001324	Muscle weakness	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0001324	HP:0001324	Muscle weakness	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0001324	HP:0001324	Muscle weakness	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0001324	HP:0001324	Muscle weakness	0	ABCA2 CL E G H	20	32	OMIM:618808	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001324	HP:0001324	Muscle weakness	0	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak			20
HP:0001324	HP:0001324	Muscle weakness	0	ABCC8 CL E G H	6833	59	ORPHA:79134	DEND syndrome	HP:0040282 - Frequent		245
HP:0001324	HP:0001324	Muscle weakness	0	ABCC8 CL E G H	6833	59	OMIM:618857	DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3			245
HP:0001324	HP:0001324	Muscle weakness	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0001324	HP:0001324	Muscle weakness	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0001324	HP:0001324	Muscle weakness	0	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001324	HP:0001324	Muscle weakness	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0001324	HP:0001324	Muscle weakness	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0001324	HP:0001324	Muscle weakness	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0001324	HP:0001324	Muscle weakness	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.		98
HP:0001324	HP:0001324	Muscle weakness	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0001324	HP:0001324	Muscle weakness	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0001324	HP:0001324	Muscle weakness	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.		200
HP:0001324	HP:0001324	Muscle weakness	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0001324	HP:0001324	Muscle weakness	0	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0001324	HP:0001324	Muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001324	HP:0001324	Muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001324	HP:0001324	Muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0001324	HP:0001324	Muscle weakness	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001324	HP:0001324	Muscle weakness	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0001324	HP:0001324	Muscle weakness	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001324	HP:0001324	Muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0001324	HP:0001324	Muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0001324	HP:0001324	Muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0001324	HP:0001324	Muscle weakness	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy			96
HP:0001324	HP:0001324	Muscle weakness	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001324	HP:0001324	Muscle weakness	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0001324	HP:0001324	Muscle weakness	0	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6			307
HP:0001324	HP:0001324	Muscle weakness	0	ACY1 CL E G H	95	177	OMIM:609924	Aminoacylase 1 deficiency	.		13
HP:0001324	HP:0001324	Muscle weakness	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency			13
HP:0001324	HP:0001324	Muscle weakness	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0001324	HP:0001324	Muscle weakness	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0001324	HP:0001324	Muscle weakness	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0001324	HP:0001324	Muscle weakness	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0001324	HP:0001324	Muscle weakness	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0001324	HP:0001324	Muscle weakness	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8			2
HP:0001324	HP:0001324	Muscle weakness	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0001324	HP:0001324	Muscle weakness	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0001324	HP:0001324	Muscle weakness	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0001324	HP:0001324	Muscle weakness	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001324	HP:0001324	Muscle weakness	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0001324	HP:0001324	Muscle weakness	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0001324	HP:0001324	Muscle weakness	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.		86
HP:0001324	HP:0001324	Muscle weakness	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0001324	HP:0001324	Muscle weakness	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.		216
HP:0001324	HP:0001324	Muscle weakness	0	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8	.		127
HP:0001324	HP:0001324	Muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0001324	HP:0001324	Muscle weakness	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0001324	Muscle weakness	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0001324	HP:0001324	Muscle weakness	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0001324	HP:0001324	Muscle weakness	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional		31
HP:0001324	HP:0001324	Muscle weakness	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.		60
HP:0001324	HP:0001324	Muscle weakness	0	AIFM1 CL E G H	9131	8768	OMIM:310490	Cowchock syndrome	.		60
HP:0001324	HP:0001324	Muscle weakness	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0001324	HP:0001324	Muscle weakness	0	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4			60
HP:0001324	HP:0001324	Muscle weakness	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		1
HP:0001324	HP:0001324	Muscle weakness	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0001324	HP:0001324	Muscle weakness	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent		62
HP:0001324	HP:0001324	Muscle weakness	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0001324	HP:0001324	Muscle weakness	0	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia	HP:0040281 - Very frequent		72
HP:0001324	HP:0001324	Muscle weakness	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		89
HP:0001324	HP:0001324	Muscle weakness	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447760	Autosomal recessive spastic paraplegia type 9B	HP:0040282 - Frequent		89
HP:0001324	HP:0001324	Muscle weakness	0	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0001324	HP:0001324	Muscle weakness	0	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0001324	HP:0001324	Muscle weakness	0	ALDOA CL E G H	226	414	ORPHA:57	Glycogen storage disease due to aldolase A deficiency	HP:0040282 - Frequent		50
HP:0001324	HP:0001324	Muscle weakness	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0001324	HP:0001324	Muscle weakness	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG			96
HP:0001324	HP:0001324	Muscle weakness	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			12
HP:0001324	HP:0001324	Muscle weakness	0	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15			12
HP:0001324	HP:0001324	Muscle weakness	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			46
HP:0001324	HP:0001324	Muscle weakness	0	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14			46
HP:0001324	HP:0001324	Muscle weakness	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0001324	HP:0001324	Muscle weakness	0	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent		114
HP:0001324	HP:0001324	Muscle weakness	0	ALS2 CL E G H	57679	443	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent		114
HP:0001324	HP:0001324	Muscle weakness	0	ALS2 CL E G H	57679	443	OMIM:607225	Spastic paralysis, infantile-onset ascending	.		114
HP:0001324	HP:0001324	Muscle weakness	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001324	HP:0001324	Muscle weakness	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0001324	HP:0001324	Muscle weakness	0	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency			62
HP:0001324	HP:0001324	Muscle weakness	0	AMPD1 CL E G H	270	468	OMIM:615511	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD			62
HP:0001324	HP:0001324	Muscle weakness	0	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency			65
HP:0001324	HP:0001324	Muscle weakness	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0001324	HP:0001324	Muscle weakness	0	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9			32
HP:0001324	HP:0001324	Muscle weakness	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0001324	HP:0001324	Muscle weakness	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0001324	HP:0001324	Muscle weakness	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0001324	HP:0001324	Muscle weakness	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0001324	HP:0001324	Muscle weakness	0	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy			304
HP:0001324	HP:0001324	Muscle weakness	0	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3			304
HP:0001324	HP:0001324	Muscle weakness	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L			304
HP:0001324	HP:0001324	Muscle weakness	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0001324	HP:0001324	Muscle weakness	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0001324	Muscle weakness	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001324	HP:0001324	Muscle weakness	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	HP:0040283 - Occasional		6
HP:0001324	HP:0001324	Muscle weakness	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001324	HP:0001324	Muscle weakness	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0001324	HP:0001324	Muscle weakness	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48			165
HP:0001324	HP:0001324	Muscle weakness	0	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive			165
HP:0001324	HP:0001324	Muscle weakness	0	APTX CL E G H	54840	15984	OMIM:208920	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	.		61
HP:0001324	HP:0001324	Muscle weakness	0	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1			125
HP:0001324	HP:0001324	Muscle weakness	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent		7
HP:0001324	HP:0001324	Muscle weakness	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0001324	HP:0001324	Muscle weakness	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0001324	HP:0001324	Muscle weakness	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		253
HP:0001324	HP:0001324	Muscle weakness	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		253
HP:0001324	HP:0001324	Muscle weakness	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001324	HP:0001324	Muscle weakness	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0001324	HP:0001324	Muscle weakness	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001324	HP:0001324	Muscle weakness	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0001324	HP:0001324	Muscle weakness	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0001324	HP:0001324	Muscle weakness	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001324	HP:0001324	Muscle weakness	0	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease			48
HP:0001324	HP:0001324	Muscle weakness	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0001324	HP:0001324	Muscle weakness	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31			1
HP:0001324	HP:0001324	Muscle weakness	0	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0001324	HP:0001324	Muscle weakness	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent		71
HP:0001324	HP:0001324	Muscle weakness	0	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0001324	HP:0001324	Muscle weakness	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent		5
HP:0001324	HP:0001324	Muscle weakness	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040283 - Occasional		100
HP:0001324	HP:0001324	Muscle weakness	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome			100
HP:0001324	HP:0001324	Muscle weakness	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0001324	HP:0001324	Muscle weakness	0	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD			4
HP:0001324	HP:0001324	Muscle weakness	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040281 - Very frequent		239
HP:0001324	HP:0001324	Muscle weakness	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001324	HP:0001324	Muscle weakness	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0001324	HP:0001324	Muscle weakness	0	ATP1A3 CL E G H	478	801	ORPHA:1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	HP:0040281 - Very frequent		150
HP:0001324	HP:0001324	Muscle weakness	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001324	HP:0001324	Muscle weakness	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0001324	HP:0001324	Muscle weakness	0	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001324	HP:0001324	Muscle weakness	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0001324	HP:0001324	Muscle weakness	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0001324	HP:0001324	Muscle weakness	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0001324	HP:0001324	Muscle weakness	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0001324	HP:0001324	Muscle weakness	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001324	HP:0001324	Muscle weakness	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent		192
HP:0001324	HP:0001324	Muscle weakness	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0001324	HP:0001324	Muscle weakness	0	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3			192
HP:0001324	HP:0001324	Muscle weakness	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0001324	HP:0001324	Muscle weakness	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0001324	HP:0001324	Muscle weakness	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001324	HP:0001324	Muscle weakness	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0001324	HP:0001324	Muscle weakness	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0001324	HP:0001324	Muscle weakness	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0001324	HP:0001324	Muscle weakness	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0001324	HP:0001324	Muscle weakness	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		43
HP:0001324	HP:0001324	Muscle weakness	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040282 - Frequent		25
HP:0001324	HP:0001324	Muscle weakness	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		17
HP:0001324	HP:0001324	Muscle weakness	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0001324	HP:0001324	Muscle weakness	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0001324	HP:0001324	Muscle weakness	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		101
HP:0001324	HP:0001324	Muscle weakness	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0001324	HP:0001324	Muscle weakness	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0001324	HP:0001324	Muscle weakness	0	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001324	HP:0001324	Muscle weakness	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0001324	HP:0001324	Muscle weakness	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001324	HP:0001324	Muscle weakness	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001324	HP:0001324	Muscle weakness	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0001324	HP:0001324	Muscle weakness	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001324	HP:0001324	Muscle weakness	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0001324	HP:0001324	Muscle weakness	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita			1
HP:0001324	HP:0001324	Muscle weakness	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0001324	HP:0001324	Muscle weakness	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001324	HP:0001324	Muscle weakness	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040283 - Occasional		8
HP:0001324	HP:0001324	Muscle weakness	0	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0001324	HP:0001324	Muscle weakness	0	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5			105
HP:0001324	HP:0001324	Muscle weakness	0	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C			105
HP:0001324	HP:0001324	Muscle weakness	0	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17			105
HP:0001324	HP:0001324	Muscle weakness	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0001324	HP:0001324	Muscle weakness	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0001324	HP:0001324	Muscle weakness	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0001324	HP:0001324	Muscle weakness	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0001324	HP:0001324	Muscle weakness	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25			2
HP:0001324	HP:0001324	Muscle weakness	0	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43			114
HP:0001324	HP:0001324	Muscle weakness	0	C19ORF12 CL E G H	83636	25443	ORPHA:289560	Mitochondrial membrane protein-associated neurodegeneration	HP:0040281 - Very frequent		114
HP:0001324	HP:0001324	Muscle weakness	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0001324	HP:0001324	Muscle weakness	0	C19ORF12 CL E G H	83636	25443	OMIM:615043	Spastic paraplegia 43, autosomal recessive	.		114
HP:0001324	HP:0001324	Muscle weakness	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0001324	HP:0001324	Muscle weakness	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.		56
HP:0001324	HP:0001324	Muscle weakness	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease			56
HP:0001324	HP:0001324	Muscle weakness	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0001324	HP:0001324	Muscle weakness	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040281 - Very frequent		449
HP:0001324	HP:0001324	Muscle weakness	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001324	HP:0001324	Muscle weakness	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001324	HP:0001324	Muscle weakness	0	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits			32
HP:0001324	HP:0001324	Muscle weakness	0	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0001324	HP:0001324	Muscle weakness	0	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1	.		247
HP:0001324	HP:0001324	Muscle weakness	0	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0001324	HP:0001324	Muscle weakness	0	CACNA1S CL E G H	779	1397	OMIM:188580	Thyrotoxic periodic paralysis, susceptibility to, 1	.		247
HP:0001324	HP:0001324	Muscle weakness	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001324	HP:0001324	Muscle weakness	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0001324	HP:0001324	Muscle weakness	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001324	HP:0001324	Muscle weakness	0	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0001324	HP:0001324	Muscle weakness	0	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0001324	HP:0001324	Muscle weakness	0	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0001324	HP:0001324	Muscle weakness	0	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4			323
HP:0001324	HP:0001324	Muscle weakness	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A			323
HP:0001324	HP:0001324	Muscle weakness	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001324	HP:0001324	Muscle weakness	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.		118
HP:0001324	HP:0001324	Muscle weakness	0	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates	.		5
HP:0001324	HP:0001324	Muscle weakness	0	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy			5
HP:0001324	HP:0001324	Muscle weakness	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0001324	HP:0001324	Muscle weakness	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0001324	HP:0001324	Muscle weakness	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0001324	HP:0001324	Muscle weakness	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type			148
HP:0001324	HP:0001324	Muscle weakness	0	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type			148
HP:0001324	HP:0001324	Muscle weakness	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0001324	HP:0001324	Muscle weakness	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		317
HP:0001324	HP:0001324	Muscle weakness	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001324	HP:0001324	Muscle weakness	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001324	HP:0001324	Muscle weakness	0	CCDC78 CL E G H	124093	14153	OMIM:614807	Myopathy, centronuclear, 4	.		25
HP:0001324	HP:0001324	Muscle weakness	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0001324	HP:0001324	Muscle weakness	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0001324	HP:0001324	Muscle weakness	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0001324	HP:0001324	Muscle weakness	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0001324	Muscle weakness	0	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0001324	HP:0001324	Muscle weakness	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy			3
HP:0001324	HP:0001324	Muscle weakness	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional		169
HP:0001324	HP:0001324	Muscle weakness	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional		169
HP:0001324	HP:0001324	Muscle weakness	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001324	HP:0001324	Muscle weakness	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001324	HP:0001324	Muscle weakness	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder			405
HP:0001324	HP:0001324	Muscle weakness	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001324	HP:0001324	Muscle weakness	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		289
HP:0001324	HP:0001324	Muscle weakness	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001324	HP:0001324	Muscle weakness	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001324	HP:0001324	Muscle weakness	0	CEP126 CL E G H	57562	29264	ORPHA:65684	Monomelic amyotrophy	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0001324	Muscle weakness	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0001324	HP:0001324	Muscle weakness	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0001324	HP:0001324	Muscle weakness	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0001324	HP:0001324	Muscle weakness	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001324	HP:0001324	Muscle weakness	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0001324	HP:0001324	Muscle weakness	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0001324	HP:0001324	Muscle weakness	0	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2			11
HP:0001324	HP:0001324	Muscle weakness	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease			11
HP:0001324	HP:0001324	Muscle weakness	0	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0001324	HP:0001324	Muscle weakness	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0001324	HP:0001324	Muscle weakness	0	CHCHD10 CL E G H	400916	15559	OMIM:615048	Spinal muscular atrophy, Jokela type	.		11
HP:0001324	HP:0001324	Muscle weakness	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001324	HP:0001324	Muscle weakness	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001324	HP:0001324	Muscle weakness	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0001324	HP:0001324	Muscle weakness	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0001324	HP:0001324	Muscle weakness	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0001324	HP:0001324	Muscle weakness	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0001324	HP:0001324	Muscle weakness	0	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0001324	HP:0001324	Muscle weakness	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0001324	HP:0001324	Muscle weakness	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		74
HP:0001324	HP:0001324	Muscle weakness	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0001324	HP:0001324	Muscle weakness	0	CHRNB1 CL E G H	1140	1961	OMIM:616314	Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency	.		53
HP:0001324	HP:0001324	Muscle weakness	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		53
HP:0001324	HP:0001324	Muscle weakness	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel			88
HP:0001324	HP:0001324	Muscle weakness	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.		88
HP:0001324	HP:0001324	Muscle weakness	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency			88
HP:0001324	HP:0001324	Muscle weakness	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		88
HP:0001324	HP:0001324	Muscle weakness	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0001324	HP:0001324	Muscle weakness	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.		139
HP:0001324	HP:0001324	Muscle weakness	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0001324	HP:0001324	Muscle weakness	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		139
HP:0001324	HP:0001324	Muscle weakness	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		27
HP:0001324	HP:0001324	Muscle weakness	0	CLCN1 CL E G H	1180	2019	OMIM:255700	Myotonia congenita, autosomal recessive			133
HP:0001324	HP:0001324	Muscle weakness	0	CLCN2 CL E G H	1181	2020	ORPHA:404	Familial hyperaldosteronism type II	HP:0040283 - Occasional		44
HP:0001324	HP:0001324	Muscle weakness	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0001324	HP:0001324	Muscle weakness	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2			102
HP:0001324	HP:0001324	Muscle weakness	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0001324	HP:0001324	Muscle weakness	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0001324	HP:0001324	Muscle weakness	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3			27
HP:0001324	HP:0001324	Muscle weakness	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent		27
HP:0001324	HP:0001324	Muscle weakness	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0001324	HP:0001324	Muscle weakness	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0001324	HP:0001324	Muscle weakness	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001324	HP:0001324	Muscle weakness	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0001324	HP:0001324	Muscle weakness	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001324	HP:0001324	Muscle weakness	0	CNNM2 CL E G H	54805	103	OMIM:613882	Hypomagnesemia 6, renal	.		47
HP:0001324	HP:0001324	Muscle weakness	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001324	HP:0001324	Muscle weakness	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0001324	HP:0001324	Muscle weakness	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001324	HP:0001324	Muscle weakness	0	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0001324	HP:0001324	Muscle weakness	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001324	HP:0001324	Muscle weakness	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG			39
HP:0001324	HP:0001324	Muscle weakness	0	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		65
HP:0001324	HP:0001324	Muscle weakness	0	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0001324	HP:0001324	Muscle weakness	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0001324	HP:0001324	Muscle weakness	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome			65
HP:0001324	HP:0001324	Muscle weakness	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0001324	HP:0001324	Muscle weakness	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19			6
HP:0001324	HP:0001324	Muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0001324	HP:0001324	Muscle weakness	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0001324	Muscle weakness	0	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			373
HP:0001324	HP:0001324	Muscle weakness	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		373
HP:0001324	HP:0001324	Muscle weakness	0	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome			243
HP:0001324	HP:0001324	Muscle weakness	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0001324	HP:0001324	Muscle weakness	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0001324	HP:0001324	Muscle weakness	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		193
HP:0001324	HP:0001324	Muscle weakness	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		660
HP:0001324	HP:0001324	Muscle weakness	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		325
HP:0001324	HP:0001324	Muscle weakness	0	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		442
HP:0001324	HP:0001324	Muscle weakness	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0001324	HP:0001324	Muscle weakness	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0001324	HP:0001324	Muscle weakness	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0001324	HP:0001324	Muscle weakness	0	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		478
HP:0001324	HP:0001324	Muscle weakness	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0001324	HP:0001324	Muscle weakness	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0001324	HP:0001324	Muscle weakness	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive			478
HP:0001324	HP:0001324	Muscle weakness	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0001324	HP:0001324	Muscle weakness	0	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		702
HP:0001324	HP:0001324	Muscle weakness	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0001324	HP:0001324	Muscle weakness	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0001324	HP:0001324	Muscle weakness	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0001324	HP:0001324	Muscle weakness	0	COL9A1 CL E G H	1297	2217	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040284 - Very rare		110
HP:0001324	HP:0001324	Muscle weakness	0	COL9A2 CL E G H	1298	2218	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040284 - Very rare		110
HP:0001324	HP:0001324	Muscle weakness	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0001324	HP:0001324	Muscle weakness	0	COL9A3 CL E G H	1299	2219	ORPHA:166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0040284 - Very rare		137
HP:0001324	HP:0001324	Muscle weakness	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0001324	HP:0001324	Muscle weakness	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		90
HP:0001324	HP:0001324	Muscle weakness	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0001324	HP:0001324	Muscle weakness	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001324	HP:0001324	Muscle weakness	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001324	HP:0001324	Muscle weakness	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0001324	HP:0001324	Muscle weakness	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4			136
HP:0001324	HP:0001324	Muscle weakness	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0001324	Muscle weakness	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001324	HP:0001324	Muscle weakness	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0001324	HP:0001324	Muscle weakness	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0001324	Muscle weakness	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001324	HP:0001324	Muscle weakness	0	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D			4
HP:0001324	HP:0001324	Muscle weakness	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0001324	HP:0001324	Muscle weakness	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001324	HP:0001324	Muscle weakness	0	CPLANE1 CL E G H	65250	25801	ORPHA:65684	Monomelic amyotrophy	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0001324	HP:0001324	Muscle weakness	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0001324	HP:0001324	Muscle weakness	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0001324	HP:0001324	Muscle weakness	0	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant			1
HP:0001324	HP:0001324	Muscle weakness	0	CPT2 CL E G H	1376	2330	ORPHA:228302	Carnitine palmitoyl transferase II deficiency, myopathic form	HP:0040282 - Frequent		101
HP:0001324	HP:0001324	Muscle weakness	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent		101
HP:0001324	HP:0001324	Muscle weakness	0	CPT2 CL E G H	1376	2330	OMIM:255110	Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	.		101
HP:0001324	HP:0001324	Muscle weakness	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1			24
HP:0001324	HP:0001324	Muscle weakness	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0001324	HP:0001324	Muscle weakness	0	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0001324	HP:0001324	Muscle weakness	0	CRPPA CL E G H	729920	37276	OMIM:616052	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7	.
HP:0001324	HP:0001324	Muscle weakness	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0001324	HP:0001324	Muscle weakness	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0001324	HP:0001324	Muscle weakness	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		88
HP:0001324	HP:0001324	Muscle weakness	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001324	HP:0001324	Muscle weakness	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		112
HP:0001324	HP:0001324	Muscle weakness	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		73
HP:0001324	HP:0001324	Muscle weakness	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0001324	HP:0001324	Muscle weakness	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0001324	HP:0001324	Muscle weakness	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0001324	HP:0001324	Muscle weakness	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0001324	HP:0001324	Muscle weakness	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0001324	HP:0001324	Muscle weakness	0	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0001324	HP:0001324	Muscle weakness	0	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0001324	HP:0001324	Muscle weakness	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0001324	HP:0001324	Muscle weakness	0	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0001324	HP:0001324	Muscle weakness	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy			108
HP:0001324	HP:0001324	Muscle weakness	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0001324	HP:0001324	Muscle weakness	0	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0001324	HP:0001324	Muscle weakness	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		108
HP:0001324	HP:0001324	Muscle weakness	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001324	HP:0001324	Muscle weakness	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0001324	Muscle weakness	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0001324	HP:0001324	Muscle weakness	0	DARS2 CL E G H	55157	25538	OMIM:611105	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation	.		60
HP:0001324	HP:0001324	Muscle weakness	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant			2
HP:0001324	HP:0001324	Muscle weakness	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0001324	HP:0001324	Muscle weakness	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0001324	HP:0001324	Muscle weakness	0	DCTN1 CL E G H	1639	2711	OMIM:105400	Amyotrophic lateral sclerosis 1	.		86
HP:0001324	HP:0001324	Muscle weakness	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB			86
HP:0001324	HP:0001324	Muscle weakness	0	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28			35
HP:0001324	HP:0001324	Muscle weakness	0	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive			35
HP:0001324	HP:0001324	Muscle weakness	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0001324	HP:0001324	Muscle weakness	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001324	HP:0001324	Muscle weakness	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001324	HP:0001324	Muscle weakness	0	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type			263
HP:0001324	HP:0001324	Muscle weakness	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0001324	HP:0001324	Muscle weakness	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4			57
HP:0001324	HP:0001324	Muscle weakness	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001324	HP:0001324	Muscle weakness	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0001324	HP:0001324	Muscle weakness	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome			21
HP:0001324	HP:0001324	Muscle weakness	0	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q			12
HP:0001324	HP:0001324	Muscle weakness	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001324	HP:0001324	Muscle weakness	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0001324	HP:0001324	Muscle weakness	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita			9
HP:0001324	HP:0001324	Muscle weakness	0	DMD CL E G H	1756	2928	ORPHA:98895	Becker muscular dystrophy	HP:0040282 - Frequent		1496
HP:0001324	HP:0001324	Muscle weakness	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0001324	HP:0001324	Muscle weakness	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0001324	HP:0001324	Muscle weakness	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.		1496
HP:0001324	HP:0001324	Muscle weakness	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001324	HP:0001324	Muscle weakness	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0001324	HP:0001324	Muscle weakness	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001324	HP:0001324	Muscle weakness	0	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0001324	HP:0001324	Muscle weakness	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001324	HP:0001324	Muscle weakness	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0001324	HP:0001324	Muscle weakness	0	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5	.		30
HP:0001324	HP:0001324	Muscle weakness	0	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1			103
HP:0001324	HP:0001324	Muscle weakness	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0001324	HP:0001324	Muscle weakness	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.		25
HP:0001324	HP:0001324	Muscle weakness	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare		25
HP:0001324	HP:0001324	Muscle weakness	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001324	HP:0001324	Muscle weakness	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001324	HP:0001324	Muscle weakness	0	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B			167
HP:0001324	HP:0001324	Muscle weakness	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0001324	HP:0001324	Muscle weakness	0	DNMT3B CL E G H	1789	2979	OMIM:619478	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4			79
HP:0001324	HP:0001324	Muscle weakness	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0001324	HP:0001324	Muscle weakness	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		91
HP:0001324	HP:0001324	Muscle weakness	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001324	HP:0001324	Muscle weakness	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			38
HP:0001324	HP:0001324	Muscle weakness	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates			38
HP:0001324	HP:0001324	Muscle weakness	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0001324	HP:0001324	Muscle weakness	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent		9
HP:0001324	HP:0001324	Muscle weakness	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15			9
HP:0001324	HP:0001324	Muscle weakness	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0001324	HP:0001324	Muscle weakness	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040281 - Very frequent		13
HP:0001324	HP:0001324	Muscle weakness	0	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0001324	HP:0001324	Muscle weakness	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0001324	HP:0001324	Muscle weakness	0	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001324	HP:0001324	Muscle weakness	0	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O			427
HP:0001324	HP:0001324	Muscle weakness	0	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0001324	HP:0001324	Muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0001324	HP:0001324	Muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0001324	HP:0001324	Muscle weakness	0	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1			600
HP:0001324	HP:0001324	Muscle weakness	0	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0001324	HP:0001324	Muscle weakness	0	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B			600
HP:0001324	HP:0001324	Muscle weakness	0	DYSF CL E G H	8291	3097	OMIM:606768	Myopathy, distal, with anterior tibial onset			600
HP:0001324	HP:0001324	Muscle weakness	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001324	HP:0001324	Muscle weakness	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001324	HP:0001324	Muscle weakness	0	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D			58
HP:0001324	HP:0001324	Muscle weakness	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0001324	HP:0001324	Muscle weakness	0	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive			58
HP:0001324	HP:0001324	Muscle weakness	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		2
HP:0001324	HP:0001324	Muscle weakness	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0001324	HP:0001324	Muscle weakness	0	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38			4
HP:0001324	HP:0001324	Muscle weakness	0	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0001324	HP:0001324	Muscle weakness	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001324	HP:0001324	Muscle weakness	0	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0001324	HP:0001324	Muscle weakness	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0001324	HP:0001324	Muscle weakness	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0001324	HP:0001324	Muscle weakness	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0001324	HP:0001324	Muscle weakness	0	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19			15
HP:0001324	HP:0001324	Muscle weakness	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0001324	HP:0001324	Muscle weakness	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0001324	HP:0001324	Muscle weakness	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001324	HP:0001324	Muscle weakness	0	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18			18
HP:0001324	HP:0001324	Muscle weakness	0	ERLIN2 CL E G H	11160	1356	ORPHA:247604	Juvenile primary lateral sclerosis	HP:0040281 - Very frequent		18
HP:0001324	HP:0001324	Muscle weakness	0	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0001324	HP:0001324	Muscle weakness	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0001324	HP:0001324	Muscle weakness	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0001324	HP:0001324	Muscle weakness	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0001324	HP:0001324	Muscle weakness	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0001324	HP:0001324	Muscle weakness	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0001324	HP:0001324	Muscle weakness	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0001324	HP:0001324	Muscle weakness	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001324	HP:0001324	Muscle weakness	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0001324	HP:0001324	Muscle weakness	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0001324	HP:0001324	Muscle weakness	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0001324	HP:0001324	Muscle weakness	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001324	HP:0001324	Muscle weakness	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001324	HP:0001324	Muscle weakness	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome			135
HP:0001324	HP:0001324	Muscle weakness	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome			135
HP:0001324	HP:0001324	Muscle weakness	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0001324	HP:0001324	Muscle weakness	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0001324	HP:0001324	Muscle weakness	0	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	.		6
HP:0001324	HP:0001324	Muscle weakness	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional		7
HP:0001324	HP:0001324	Muscle weakness	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77			36
HP:0001324	HP:0001324	Muscle weakness	0	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0001324	HP:0001324	Muscle weakness	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0001324	HP:0001324	Muscle weakness	0	FBN1 CL E G H	2200	3603	ORPHA:2833	Stiff skin syndrome	HP:0040283 - Occasional		1361
HP:0001324	HP:0001324	Muscle weakness	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0001324	HP:0001324	Muscle weakness	0	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0001324	HP:0001324	Muscle weakness	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0001324	HP:0001324	Muscle weakness	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0001324	HP:0001324	Muscle weakness	0	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0001324	HP:0001324	Muscle weakness	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001324	HP:0001324	Muscle weakness	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001324	HP:0001324	Muscle weakness	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0001324	HP:0001324	Muscle weakness	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent		51
HP:0001324	HP:0001324	Muscle weakness	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0001324	HP:0001324	Muscle weakness	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0001324	HP:0001324	Muscle weakness	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0001324	HP:0001324	Muscle weakness	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0001324	HP:0001324	Muscle weakness	0	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe			68
HP:0001324	HP:0001324	Muscle weakness	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0001324	HP:0001324	Muscle weakness	0	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant			68
HP:0001324	HP:0001324	Muscle weakness	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001324	HP:0001324	Muscle weakness	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0001324	HP:0001324	Muscle weakness	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0001324	HP:0001324	Muscle weakness	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0001324	HP:0001324	Muscle weakness	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.		13
HP:0001324	HP:0001324	Muscle weakness	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent		13
HP:0001324	HP:0001324	Muscle weakness	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0001324	HP:0001324	Muscle weakness	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0001324	HP:0001324	Muscle weakness	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0001324	HP:0001324	Muscle weakness	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9			157
HP:0001324	HP:0001324	Muscle weakness	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0001324	HP:0001324	Muscle weakness	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0001324	HP:0001324	Muscle weakness	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0001324	HP:0001324	Muscle weakness	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		157
HP:0001324	HP:0001324	Muscle weakness	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X			184
HP:0001324	HP:0001324	Muscle weakness	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0001324	HP:0001324	Muscle weakness	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0001324	HP:0001324	Muscle weakness	0	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4			184
HP:0001324	HP:0001324	Muscle weakness	0	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4			184
HP:0001324	HP:0001324	Muscle weakness	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		184
HP:0001324	HP:0001324	Muscle weakness	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency			18
HP:0001324	HP:0001324	Muscle weakness	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0001324	HP:0001324	Muscle weakness	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001324	HP:0001324	Muscle weakness	0	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant			197
HP:0001324	HP:0001324	Muscle weakness	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.		197
HP:0001324	HP:0001324	Muscle weakness	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0001324	HP:0001324	Muscle weakness	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0001324	HP:0001324	Muscle weakness	0	FMR1 CL E G H	2332	3775	ORPHA:93256	Fragile X-associated tremor/ataxia syndrome	HP:0040282 - Frequent		30
HP:0001324	HP:0001324	Muscle weakness	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040282 - Frequent		20
HP:0001324	HP:0001324	Muscle weakness	0	FOXE1 CL E G H	2304	3806	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		9
HP:0001324	HP:0001324	Muscle weakness	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0001324	HP:0001324	Muscle weakness	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0001324	HP:0001324	Muscle weakness	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0001324	HP:0001324	Muscle weakness	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0001324	HP:0001324	Muscle weakness	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease			105
HP:0001324	HP:0001324	Muscle weakness	0	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent		105
HP:0001324	HP:0001324	Muscle weakness	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0001324	HP:0001324	Muscle weakness	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent		18
HP:0001324	HP:0001324	Muscle weakness	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001324	HP:0001324	Muscle weakness	0	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal			17
HP:0001324	HP:0001324	Muscle weakness	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001324	HP:0001324	Muscle weakness	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent		407
HP:0001324	HP:0001324	Muscle weakness	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0001324	HP:0001324	Muscle weakness	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0001324	HP:0001324	Muscle weakness	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001324	HP:0001324	Muscle weakness	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001324	HP:0001324	Muscle weakness	0	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001324	HP:0001324	Muscle weakness	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001324	HP:0001324	Muscle weakness	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001324	HP:0001324	Muscle weakness	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001324	HP:0001324	Muscle weakness	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0001324	HP:0001324	Muscle weakness	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0001324	HP:0001324	Muscle weakness	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0001324	HP:0001324	Muscle weakness	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy			121
HP:0001324	HP:0001324	Muscle weakness	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0001324	HP:0001324	Muscle weakness	0	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0001324	HP:0001324	Muscle weakness	0	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0001324	HP:0001324	Muscle weakness	0	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0001324	HP:0001324	Muscle weakness	0	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001324	HP:0001324	Muscle weakness	0	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0001324	HP:0001324	Muscle weakness	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.	HP:0003581 - Adult onset	86
HP:0001324	HP:0001324	Muscle weakness	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		86
HP:0001324	HP:0001324	Muscle weakness	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive			30
HP:0001324	HP:0001324	Muscle weakness	0	GBE1 CL E G H	2632	4180	ORPHA:206583	Adult polyglucosan body disease	HP:0040281 - Very frequent		86
HP:0001324	HP:0001324	Muscle weakness	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0001324	HP:0001324	Muscle weakness	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0001324	HP:0001324	Muscle weakness	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0001324	HP:0001324	Muscle weakness	0	GCK CL E G H	2645	4195	ORPHA:79299	Hyperinsulinism due to glucokinase deficiency	HP:0040282 - Frequent		237
HP:0001324	HP:0001324	Muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K			108
HP:0001324	HP:0001324	Muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0001324	Muscle weakness	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001324	HP:0001324	Muscle weakness	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			108
HP:0001324	HP:0001324	Muscle weakness	0	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0001324	HP:0001324	Muscle weakness	0	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A			108
HP:0001324	HP:0001324	Muscle weakness	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0001324	HP:0001324	Muscle weakness	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0001324	HP:0001324	Muscle weakness	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0001324	HP:0001324	Muscle weakness	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional		43
HP:0001324	HP:0001324	Muscle weakness	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			128
HP:0001324	HP:0001324	Muscle weakness	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0001324	HP:0001324	Muscle weakness	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1			128
HP:0001324	HP:0001324	Muscle weakness	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001324	HP:0001324	Muscle weakness	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0001324	Muscle weakness	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0001324	HP:0001324	Muscle weakness	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0001324	HP:0001324	Muscle weakness	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0001324	HP:0001324	Muscle weakness	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0001324	HP:0001324	Muscle weakness	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0001324	HP:0001324	Muscle weakness	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0001324	HP:0001324	Muscle weakness	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0001324	HP:0001324	Muscle weakness	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0001324	HP:0001324	Muscle weakness	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0001324	HP:0001324	Muscle weakness	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0001324	Muscle weakness	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0001324	HP:0001324	Muscle weakness	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0001324	HP:0001324	Muscle weakness	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0001324	HP:0001324	Muscle weakness	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect			34
HP:0001324	HP:0001324	Muscle weakness	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001324	HP:0001324	Muscle weakness	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0001324	HP:0001324	Muscle weakness	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.		34
HP:0001324	HP:0001324	Muscle weakness	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	.		34
HP:0001324	HP:0001324	Muscle weakness	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0001324	HP:0001324	Muscle weakness	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001324	HP:0001324	Muscle weakness	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements			36
HP:0001324	HP:0001324	Muscle weakness	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent		101
HP:0001324	HP:0001324	Muscle weakness	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0001324	HP:0001324	Muscle weakness	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001324	HP:0001324	Muscle weakness	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0001324	HP:0001324	Muscle weakness	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional		173
HP:0001324	HP:0001324	Muscle weakness	0	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy			173
HP:0001324	HP:0001324	Muscle weakness	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001324	HP:0001324	Muscle weakness	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C			18
HP:0001324	HP:0001324	Muscle weakness	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.		12
HP:0001324	HP:0001324	Muscle weakness	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001324	HP:0001324	Muscle weakness	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations			30
HP:0001324	HP:0001324	Muscle weakness	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0001324	HP:0001324	Muscle weakness	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001324	HP:0001324	Muscle weakness	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation			434
HP:0001324	HP:0001324	Muscle weakness	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001324	HP:0001324	Muscle weakness	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001324	HP:0001324	Muscle weakness	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0001324	HP:0001324	Muscle weakness	0	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type			53
HP:0001324	HP:0001324	Muscle weakness	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0001324	HP:0001324	Muscle weakness	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0001324	HP:0001324	Muscle weakness	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV	.		18
HP:0001324	HP:0001324	Muscle weakness	0	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2			18
HP:0001324	HP:0001324	Muscle weakness	0	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001324	HP:0001324	Muscle weakness	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001324	HP:0001324	Muscle weakness	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0001324	HP:0001324	Muscle weakness	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001324	HP:0001324	Muscle weakness	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001324	HP:0001324	Muscle weakness	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0001324	HP:0001324	Muscle weakness	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent		15
HP:0001324	HP:0001324	Muscle weakness	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0001324	HP:0001324	Muscle weakness	0	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001324	HP:0001324	Muscle weakness	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001324	HP:0001324	Muscle weakness	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0001324	HP:0001324	Muscle weakness	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.		80
HP:0001324	HP:0001324	Muscle weakness	0	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0001324	HP:0001324	Muscle weakness	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0001324	HP:0001324	Muscle weakness	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0001324	HP:0001324	Muscle weakness	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0001324	HP:0001324	Muscle weakness	0	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive			12
HP:0001324	HP:0001324	Muscle weakness	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0001324	HP:0001324	Muscle weakness	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G			11
HP:0001324	HP:0001324	Muscle weakness	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0001324	HP:0001324	Muscle weakness	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type			11
HP:0001324	HP:0001324	Muscle weakness	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0001324	HP:0001324	Muscle weakness	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0001324	HP:0001324	Muscle weakness	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0001324	HP:0001324	Muscle weakness	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0001324	HP:0001324	Muscle weakness	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0001324	HP:0001324	Muscle weakness	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.		2
HP:0001324	HP:0001324	Muscle weakness	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0001324	HP:0001324	Muscle weakness	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0001324	HP:0001324	Muscle weakness	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.		81
HP:0001324	HP:0001324	Muscle weakness	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0001324	HP:0001324	Muscle weakness	0	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3			31
HP:0001324	HP:0001324	Muscle weakness	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0001324	HP:0001324	Muscle weakness	0	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2			5
HP:0001324	HP:0001324	Muscle weakness	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0001324	HP:0001324	Muscle weakness	0	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G			5
HP:0001324	HP:0001324	Muscle weakness	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0001324	HP:0001324	Muscle weakness	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0001324	HP:0001324	Muscle weakness	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3			2
HP:0001324	HP:0001324	Muscle weakness	0	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0001324	HP:0001324	Muscle weakness	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0001324	HP:0001324	Muscle weakness	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0001324	HP:0001324	Muscle weakness	0	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F			47
HP:0001324	HP:0001324	Muscle weakness	0	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F			47
HP:0001324	HP:0001324	Muscle weakness	0	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB			47
HP:0001324	HP:0001324	Muscle weakness	0	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC			13
HP:0001324	HP:0001324	Muscle weakness	0	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L			38
HP:0001324	HP:0001324	Muscle weakness	0	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA			38
HP:0001324	HP:0001324	Muscle weakness	0	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0001324	HP:0001324	Muscle weakness	0	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant			46
HP:0001324	HP:0001324	Muscle weakness	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0001324	HP:0001324	Muscle weakness	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0001324	HP:0001324	Muscle weakness	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease			12
HP:0001324	HP:0001324	Muscle weakness	0	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0001324	HP:0001324	Muscle weakness	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0001324	HP:0001324	Muscle weakness	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040281 - Very frequent		86
HP:0001324	HP:0001324	Muscle weakness	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001324	HP:0001324	Muscle weakness	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0001324	HP:0001324	Muscle weakness	0	IFRD1 CL E G H	3475	5456	ORPHA:98771	Spinocerebellar ataxia type 18	HP:0040281 - Very frequent		1
HP:0001324	HP:0001324	Muscle weakness	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001324	HP:0001324	Muscle weakness	0	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S			209
HP:0001324	HP:0001324	Muscle weakness	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0001324	HP:0001324	Muscle weakness	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0001324	HP:0001324	Muscle weakness	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0001324	HP:0001324	Muscle weakness	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0001324	HP:0001324	Muscle weakness	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E			135
HP:0001324	HP:0001324	Muscle weakness	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0001324	HP:0001324	Muscle weakness	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome			7
HP:0001324	HP:0001324	Muscle weakness	0	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0001324	HP:0001324	Muscle weakness	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0001324	HP:0001324	Muscle weakness	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0001324	HP:0001324	Muscle weakness	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		4
HP:0001324	HP:0001324	Muscle weakness	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0001324	HP:0001324	Muscle weakness	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0001324	HP:0001324	Muscle weakness	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.		19
HP:0001324	HP:0001324	Muscle weakness	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001324	HP:0001324	Muscle weakness	0	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	.		127
HP:0001324	HP:0001324	Muscle weakness	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita			124
HP:0001324	HP:0001324	Muscle weakness	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0001324	Muscle weakness	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0001324	Muscle weakness	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K			1
HP:0001324	HP:0001324	Muscle weakness	0	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0001324	HP:0001324	Muscle weakness	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001324	HP:0001324	Muscle weakness	0	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6			80
HP:0001324	HP:0001324	Muscle weakness	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0001324	HP:0001324	Muscle weakness	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001324	HP:0001324	Muscle weakness	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0001324	HP:0001324	Muscle weakness	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0001324	HP:0001324	Muscle weakness	0	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0001324	HP:0001324	Muscle weakness	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0001324	HP:0001324	Muscle weakness	0	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0001324	HP:0001324	Muscle weakness	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0001324	HP:0001324	Muscle weakness	0	KCNJ11 CL E G H	3767	6257	ORPHA:79134	DEND syndrome	HP:0040282 - Frequent		127
HP:0001324	HP:0001324	Muscle weakness	0	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0001324	HP:0001324	Muscle weakness	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040280 - Obligate		193
HP:0001324	HP:0001324	Muscle weakness	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040280 - Obligate		128
HP:0001324	HP:0001324	Muscle weakness	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional		128
HP:0001324	HP:0001324	Muscle weakness	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0001324	HP:0001324	Muscle weakness	0	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0001324	HP:0001324	Muscle weakness	0	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive			276
HP:0001324	HP:0001324	Muscle weakness	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1			202
HP:0001324	HP:0001324	Muscle weakness	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0001324	HP:0001324	Muscle weakness	0	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant			93
HP:0001324	HP:0001324	Muscle weakness	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001324	HP:0001324	Muscle weakness	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0001324	HP:0001324	Muscle weakness	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001324	HP:0001324	Muscle weakness	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0001324	HP:0001324	Muscle weakness	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	.		13
HP:0001324	HP:0001324	Muscle weakness	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0001324	HP:0001324	Muscle weakness	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0001324	HP:0001324	Muscle weakness	0	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0001324	HP:0001324	Muscle weakness	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0001324	HP:0001324	Muscle weakness	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		196
HP:0001324	HP:0001324	Muscle weakness	0	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0001324	HP:0001324	Muscle weakness	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0001324	HP:0001324	Muscle weakness	0	L1CAM CL E G H	3897	6470	ORPHA:1497	X-linked complicated corpus callosum dysgenesis	HP:0040282 - Frequent		134
HP:0001324	HP:0001324	Muscle weakness	0	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1			134
HP:0001324	HP:0001324	Muscle weakness	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040281 - Very frequent		411
HP:0001324	HP:0001324	Muscle weakness	0	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0001324	HP:0001324	Muscle weakness	0	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0001324	HP:0001324	Muscle weakness	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		92
HP:0001324	HP:0001324	Muscle weakness	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0001324	HP:0001324	Muscle weakness	0	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency			211
HP:0001324	HP:0001324	Muscle weakness	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0001324	HP:0001324	Muscle weakness	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0001324	HP:0001324	Muscle weakness	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		136
HP:0001324	HP:0001324	Muscle weakness	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001324	HP:0001324	Muscle weakness	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001324	HP:0001324	Muscle weakness	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4			286
HP:0001324	HP:0001324	Muscle weakness	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001324	HP:0001324	Muscle weakness	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0001324	HP:0001324	Muscle weakness	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0001324	HP:0001324	Muscle weakness	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W	.		10
HP:0001324	HP:0001324	Muscle weakness	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0001324	HP:0001324	Muscle weakness	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0001324	HP:0001324	Muscle weakness	0	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C			74
HP:0001324	HP:0001324	Muscle weakness	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001324	HP:0001324	Muscle weakness	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001324	HP:0001324	Muscle weakness	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0001324	HP:0001324	Muscle weakness	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1			645
HP:0001324	HP:0001324	Muscle weakness	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0001324	HP:0001324	Muscle weakness	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0001324	HP:0001324	Muscle weakness	0	LMNA CL E G H	4000	6636	OMIM:616516	Emery-Dreifuss muscular dystrophy 3, autosomal recessive	.		645
HP:0001324	HP:0001324	Muscle weakness	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0001324	HP:0001324	Muscle weakness	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040282 - Frequent		44
HP:0001324	HP:0001324	Muscle weakness	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0001324	HP:0001324	Muscle weakness	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0001324	HP:0001324	Muscle weakness	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0001324	HP:0001324	Muscle weakness	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0001324	Muscle weakness	0	LPIN1 CL E G H	23175	13345	OMIM:268200	Rhabdomyolysis, acute recurrent	.		95
HP:0001324	HP:0001324	Muscle weakness	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0001324	HP:0001324	Muscle weakness	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001324	HP:0001324	Muscle weakness	0	LRP4 CL E G H	4038	6696	OMIM:616304	Myasthenic syndrome, congenital, 17	.		124
HP:0001324	HP:0001324	Muscle weakness	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		124
HP:0001324	HP:0001324	Muscle weakness	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0001324	HP:0001324	Muscle weakness	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2			124
HP:0001324	HP:0001324	Muscle weakness	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0001324	HP:0001324	Muscle weakness	0	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0001324	HP:0001324	Muscle weakness	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0001324	HP:0001324	Muscle weakness	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent		191
HP:0001324	HP:0001324	Muscle weakness	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P			102
HP:0001324	HP:0001324	Muscle weakness	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0001324	HP:0001324	Muscle weakness	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0001324	HP:0001324	Muscle weakness	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8	.		10
HP:0001324	HP:0001324	Muscle weakness	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0001324	HP:0001324	Muscle weakness	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.		239
HP:0001324	HP:0001324	Muscle weakness	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		43
HP:0001324	HP:0001324	Muscle weakness	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0001324	HP:0001324	Muscle weakness	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001324	HP:0001324	Muscle weakness	0	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion			2
HP:0001324	HP:0001324	Muscle weakness	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0001324	HP:0001324	Muscle weakness	0	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0001324	HP:0001324	Muscle weakness	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0001324	HP:0001324	Muscle weakness	0	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0001324	HP:0001324	Muscle weakness	0	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0001324	HP:0001324	Muscle weakness	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0001324	HP:0001324	Muscle weakness	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0001324	HP:0001324	Muscle weakness	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0001324	HP:0001324	Muscle weakness	0	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2			43
HP:0001324	HP:0001324	Muscle weakness	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0001324	HP:0001324	Muscle weakness	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0001324	HP:0001324	Muscle weakness	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0001324	HP:0001324	Muscle weakness	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0001324	HP:0001324	Muscle weakness	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0001324	HP:0001324	Muscle weakness	0	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0001324	HP:0001324	Muscle weakness	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A			203
HP:0001324	HP:0001324	Muscle weakness	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0001324	HP:0001324	Muscle weakness	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0001324	HP:0001324	Muscle weakness	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0001324	HP:0001324	Muscle weakness	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0001324	HP:0001324	Muscle weakness	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001324	HP:0001324	Muscle weakness	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0001324	HP:0001324	Muscle weakness	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs			14
HP:0001324	HP:0001324	Muscle weakness	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0001324	HP:0001324	Muscle weakness	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0001324	HP:0001324	Muscle weakness	0	MLIP CL E G H	90523	21355	OMIM:620138
HP:0001324	HP:0001324	Muscle weakness	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T			18
HP:0001324	HP:0001324	Muscle weakness	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0001324	HP:0001324	Muscle weakness	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0001324	HP:0001324	Muscle weakness	0	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0001324	HP:0001324	Muscle weakness	0	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0001324	HP:0001324	Muscle weakness	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0001324	HP:0001324	Muscle weakness	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0001324	HP:0001324	Muscle weakness	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040281 - Very frequent		134
HP:0001324	HP:0001324	Muscle weakness	0	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I			134
HP:0001324	HP:0001324	Muscle weakness	0	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B			134
HP:0001324	HP:0001324	Muscle weakness	0	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D			134
HP:0001324	HP:0001324	Muscle weakness	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0001324	HP:0001324	Muscle weakness	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0001324	HP:0001324	Muscle weakness	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0001324	HP:0001324	Muscle weakness	0	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0001324	HP:0001324	Muscle weakness	0	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			134
HP:0001324	HP:0001324	Muscle weakness	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45			11
HP:0001324	HP:0001324	Muscle weakness	0	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0001324	HP:0001324	Muscle weakness	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001324	HP:0001324	Muscle weakness	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0001324	HP:0001324	Muscle weakness	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0001324	HP:0001324	Muscle weakness	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0001324	HP:0001324	Muscle weakness	0	MTHFR CL E G H	4524	7436	OMIM:236250	Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity	.		183
HP:0001324	HP:0001324	Muscle weakness	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0001324	HP:0001324	Muscle weakness	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001324	HP:0001324	Muscle weakness	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001324	HP:0001324	Muscle weakness	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001324	HP:0001324	Muscle weakness	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0001324	HP:0001324	Muscle weakness	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1			88
HP:0001324	HP:0001324	Muscle weakness	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0001324	HP:0001324	Muscle weakness	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0001324	HP:0001324	Muscle weakness	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0001324	HP:0001324	Muscle weakness	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0001324	HP:0001324	Muscle weakness	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001324	HP:0001324	Muscle weakness	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency			72
HP:0001324	HP:0001324	Muscle weakness	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		72
HP:0001324	HP:0001324	Muscle weakness	0	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0001324	HP:0001324	Muscle weakness	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001324	HP:0001324	Muscle weakness	0	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.		227
HP:0001324	HP:0001324	Muscle weakness	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0001324	HP:0001324	Muscle weakness	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia			105
HP:0001324	HP:0001324	Muscle weakness	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0001324	HP:0001324	Muscle weakness	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001324	HP:0001324	Muscle weakness	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy			1269
HP:0001324	HP:0001324	Muscle weakness	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001324	HP:0001324	Muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001324	HP:0001324	Muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001324	HP:0001324	Muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage			1269
HP:0001324	HP:0001324	Muscle weakness	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001324	HP:0001324	Muscle weakness	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001324	HP:0001324	Muscle weakness	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001324	HP:0001324	Muscle weakness	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001324	HP:0001324	Muscle weakness	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001324	HP:0001324	Muscle weakness	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome			5
HP:0001324	HP:0001324	Muscle weakness	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0001324	HP:0001324	Muscle weakness	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0001324	HP:0001324	Muscle weakness	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0001324	HP:0001324	Muscle weakness	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001324	HP:0001324	Muscle weakness	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A			75
HP:0001324	HP:0001324	Muscle weakness	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0001324	HP:0001324	Muscle weakness	0	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.		75
HP:0001324	HP:0001324	Muscle weakness	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0001324	HP:0001324	Muscle weakness	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0001324	HP:0001324	Muscle weakness	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001324	HP:0001324	Muscle weakness	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive			217
HP:0001324	HP:0001324	Muscle weakness	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination			1
HP:0001324	HP:0001324	Muscle weakness	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040281 - Very frequent		47
HP:0001324	HP:0001324	Muscle weakness	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease			47
HP:0001324	HP:0001324	Muscle weakness	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0001324	HP:0001324	Muscle weakness	0	NARS2 CL E G H	79731	26274	ORPHA:79134	DEND syndrome	HP:0040282 - Frequent		34
HP:0001324	HP:0001324	Muscle weakness	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040283 - Occasional		706
HP:0001324	HP:0001324	Muscle weakness	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0001324	HP:0001324	Muscle weakness	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0001324	HP:0001324	Muscle weakness	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional		39
HP:0001324	HP:0001324	Muscle weakness	0	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0001324	HP:0001324	Muscle weakness	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0001324	HP:0001324	Muscle weakness	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0001324	HP:0001324	Muscle weakness	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0001324	HP:0001324	Muscle weakness	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0001324	HP:0001324	Muscle weakness	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28			3
HP:0001324	HP:0001324	Muscle weakness	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0001324	HP:0001324	Muscle weakness	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001324	HP:0001324	Muscle weakness	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0001324	HP:0001324	Muscle weakness	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0001324	HP:0001324	Muscle weakness	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0001324	HP:0001324	Muscle weakness	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0001324	HP:0001324	Muscle weakness	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0001324	HP:0001324	Muscle weakness	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0001324	HP:0001324	Muscle weakness	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17			39
HP:0001324	HP:0001324	Muscle weakness	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		39
HP:0001324	HP:0001324	Muscle weakness	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0001324	HP:0001324	Muscle weakness	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0001324	HP:0001324	Muscle weakness	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0001324	HP:0001324	Muscle weakness	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0001324	HP:0001324	Muscle weakness	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0001324	HP:0001324	Muscle weakness	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0001324	HP:0001324	Muscle weakness	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0001324	HP:0001324	Muscle weakness	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0001324	HP:0001324	Muscle weakness	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0001324	HP:0001324	Muscle weakness	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0001324	HP:0001324	Muscle weakness	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0001324	HP:0001324	Muscle weakness	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0001324	HP:0001324	Muscle weakness	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0001324	HP:0001324	Muscle weakness	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0001324	HP:0001324	Muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001324	HP:0001324	Muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001324	HP:0001324	Muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0001324	HP:0001324	Muscle weakness	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001324	HP:0001324	Muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0001324	HP:0001324	Muscle weakness	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0001324	HP:0001324	Muscle weakness	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001324	HP:0001324	Muscle weakness	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0001324	HP:0001324	Muscle weakness	0	NEFH CL E G H	4744	7737	OMIM:105400	Amyotrophic lateral sclerosis 1	.		24
HP:0001324	HP:0001324	Muscle weakness	0	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC			24
HP:0001324	HP:0001324	Muscle weakness	0	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E			118
HP:0001324	HP:0001324	Muscle weakness	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0001324	HP:0001324	Muscle weakness	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0001324	HP:0001324	Muscle weakness	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F			118
HP:0001324	HP:0001324	Muscle weakness	0	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G			118
HP:0001324	HP:0001324	Muscle weakness	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0001324	HP:0001324	Muscle weakness	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0001324	HP:0001324	Muscle weakness	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040282 - Frequent		43
HP:0001324	HP:0001324	Muscle weakness	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001324	HP:0001324	Muscle weakness	0	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0001324	HP:0001324	Muscle weakness	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.		1952
HP:0001324	HP:0001324	Muscle weakness	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0001324	HP:0001324	Muscle weakness	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0001324	HP:0001324	Muscle weakness	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0001324	HP:0001324	Muscle weakness	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001324	HP:0001324	Muscle weakness	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.		34
HP:0001324	HP:0001324	Muscle weakness	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0001324	HP:0001324	Muscle weakness	0	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0001324	HP:0001324	Muscle weakness	0	NKX2-1 CL E G H	7080	11825	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		51
HP:0001324	HP:0001324	Muscle weakness	0	NKX2-5 CL E G H	1482	2488	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		90
HP:0001324	HP:0001324	Muscle weakness	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent		90
HP:0001324	HP:0001324	Muscle weakness	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0001324	HP:0001324	Muscle weakness	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001324	HP:0001324	Muscle weakness	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36			9
HP:0001324	HP:0001324	Muscle weakness	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0001324	HP:0001324	Muscle weakness	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0001324	Muscle weakness	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0001324	HP:0001324	Muscle weakness	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0001324	HP:0001324	Muscle weakness	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001324	HP:0001324	Muscle weakness	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0001324	HP:0001324	Muscle weakness	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		102
HP:0001324	HP:0001324	Muscle weakness	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0001324	HP:0001324	Muscle weakness	0	NTNG2 CL E G H	84628	14288	OMIM:618718	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0001324	HP:0001324	Muscle weakness	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0001324	HP:0001324	Muscle weakness	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0001324	HP:0001324	Muscle weakness	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0001324	HP:0001324	Muscle weakness	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001324	HP:0001324	Muscle weakness	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0001324	HP:0001324	Muscle weakness	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0001324	HP:0001324	Muscle weakness	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0001324	HP:0001324	Muscle weakness	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0001324	HP:0001324	Muscle weakness	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0001324	HP:0001324	Muscle weakness	0	OPTN CL E G H	10133	17142	OMIM:613435	Amyotrophic lateral sclerosis 12	.		62
HP:0001324	HP:0001324	Muscle weakness	0	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0001324	HP:0001324	Muscle weakness	0	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.		19
HP:0001324	HP:0001324	Muscle weakness	0	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy			19
HP:0001324	HP:0001324	Muscle weakness	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0001324	HP:0001324	Muscle weakness	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0001324	HP:0001324	Muscle weakness	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy			10
HP:0001324	HP:0001324	Muscle weakness	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0001324	HP:0001324	Muscle weakness	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0001324	HP:0001324	Muscle weakness	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001324	HP:0001324	Muscle weakness	0	PAX8 CL E G H	7849	8622	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		63
HP:0001324	HP:0001324	Muscle weakness	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent		63
HP:0001324	HP:0001324	Muscle weakness	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3			6
HP:0001324	HP:0001324	Muscle weakness	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.		1
HP:0001324	HP:0001324	Muscle weakness	0	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.		1
HP:0001324	HP:0001324	Muscle weakness	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001324	HP:0001324	Muscle weakness	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		13
HP:0001324	HP:0001324	Muscle weakness	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		75
HP:0001324	HP:0001324	Muscle weakness	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0001324	HP:0001324	Muscle weakness	0	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0001324	HP:0001324	Muscle weakness	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001324	HP:0001324	Muscle weakness	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			169
HP:0001324	HP:0001324	Muscle weakness	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0001324	HP:0001324	Muscle weakness	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0001324	HP:0001324	Muscle weakness	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0001324	HP:0001324	Muscle weakness	0	PEX11B CL E G H	8799	8853	OMIM:614920	Peroxisome biogenesis disorder 14B	.		4
HP:0001324	HP:0001324	Muscle weakness	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0001324	HP:0001324	Muscle weakness	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0001324	HP:0001324	Muscle weakness	0	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B	.		66
HP:0001324	HP:0001324	Muscle weakness	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0001324	HP:0001324	Muscle weakness	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0001324	HP:0001324	Muscle weakness	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0001324	HP:0001324	Muscle weakness	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0001324	HP:0001324	Muscle weakness	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0001324	HP:0001324	Muscle weakness	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0001324	HP:0001324	Muscle weakness	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0001324	HP:0001324	Muscle weakness	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0001324	HP:0001324	Muscle weakness	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome			98
HP:0001324	HP:0001324	Muscle weakness	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0001324	HP:0001324	Muscle weakness	0	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	.		72
HP:0001324	HP:0001324	Muscle weakness	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0001324	HP:0001324	Muscle weakness	0	PFKM CL E G H	5213	8877	ORPHA:371	Glycogen storage disease due to muscle phosphofructokinase deficiency	HP:0040282 - Frequent		64
HP:0001324	HP:0001324	Muscle weakness	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.		64
HP:0001324	HP:0001324	Muscle weakness	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0001324	HP:0001324	Muscle weakness	0	PFN1 CL E G H	5216	8881	OMIM:614808	AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18			6
HP:0001324	HP:0001324	Muscle weakness	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040282 - Frequent		21
HP:0001324	HP:0001324	Muscle weakness	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0001324	HP:0001324	Muscle weakness	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001324	HP:0001324	Muscle weakness	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0001324	HP:0001324	Muscle weakness	0	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked	.		54
HP:0001324	HP:0001324	Muscle weakness	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0001324	HP:0001324	Muscle weakness	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001324	HP:0001324	Muscle weakness	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.		101
HP:0001324	HP:0001324	Muscle weakness	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0001324	HP:0001324	Muscle weakness	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0001324	HP:0001324	Muscle weakness	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0001324	HP:0001324	Muscle weakness	0	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0001324	HP:0001324	Muscle weakness	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0001324	HP:0001324	Muscle weakness	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001324	HP:0001324	Muscle weakness	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001324	HP:0001324	Muscle weakness	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0001324	HP:0001324	Muscle weakness	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0001324	HP:0001324	Muscle weakness	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001324	HP:0001324	Muscle weakness	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0001324	HP:0001324	Muscle weakness	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0001324	HP:0001324	Muscle weakness	0	PIK3R5 CL E G H	23533	30035	OMIM:615217	Ataxia-Oculomotor apraxia 3	.		11
HP:0001324	HP:0001324	Muscle weakness	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0001324	HP:0001324	Muscle weakness	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies			3
HP:0001324	HP:0001324	Muscle weakness	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder			3
HP:0001324	HP:0001324	Muscle weakness	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita			759
HP:0001324	HP:0001324	Muscle weakness	0	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy			759
HP:0001324	HP:0001324	Muscle weakness	0	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q			759
HP:0001324	HP:0001324	Muscle weakness	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0001324	HP:0001324	Muscle weakness	0	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C			186
HP:0001324	HP:0001324	Muscle weakness	0	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0001324	HP:0001324	Muscle weakness	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0001324	HP:0001324	Muscle weakness	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040282 - Frequent		105
HP:0001324	HP:0001324	Muscle weakness	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form			60
HP:0001324	HP:0001324	Muscle weakness	0	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form			60
HP:0001324	HP:0001324	Muscle weakness	0	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0001324	HP:0001324	Muscle weakness	0	PLP1 CL E G H	5354	9086	ORPHA:99015	Spastic paraplegia type 2	HP:0040281 - Very frequent		60
HP:0001324	HP:0001324	Muscle weakness	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0001324	HP:0001324	Muscle weakness	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		3
HP:0001324	HP:0001324	Muscle weakness	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001324	HP:0001324	Muscle weakness	0	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0001324	HP:0001324	Muscle weakness	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0001324	HP:0001324	Muscle weakness	0	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness			79
HP:0001324	HP:0001324	Muscle weakness	0	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A			79
HP:0001324	HP:0001324	Muscle weakness	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0001324	HP:0001324	Muscle weakness	0	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A			79
HP:0001324	HP:0001324	Muscle weakness	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0001324	HP:0001324	Muscle weakness	0	PMP22 CL E G H	5376	9118	OMIM:162500	Neuropathy, hereditary, with liability to pressure palsies	.		79
HP:0001324	HP:0001324	Muscle weakness	0	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0001324	HP:0001324	Muscle weakness	0	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia			79
HP:0001324	HP:0001324	Muscle weakness	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent		7
HP:0001324	HP:0001324	Muscle weakness	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0001324	HP:0001324	Muscle weakness	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia			66
HP:0001324	HP:0001324	Muscle weakness	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0001324	HP:0001324	Muscle weakness	0	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2			244
HP:0001324	HP:0001324	Muscle weakness	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0001324	HP:0001324	Muscle weakness	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0001324	HP:0001324	Muscle weakness	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001324	HP:0001324	Muscle weakness	0	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome			103
HP:0001324	HP:0001324	Muscle weakness	0	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive			103
HP:0001324	HP:0001324	Muscle weakness	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0001324	HP:0001324	Muscle weakness	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent		60
HP:0001324	HP:0001324	Muscle weakness	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0001324	HP:0001324	Muscle weakness	0	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z			6
HP:0001324	HP:0001324	Muscle weakness	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001324	HP:0001324	Muscle weakness	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0001324	HP:0001324	Muscle weakness	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0001324	HP:0001324	Muscle weakness	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)			464
HP:0001324	HP:0001324	Muscle weakness	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0001324	HP:0001324	Muscle weakness	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0001324	HP:0001324	Muscle weakness	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0001324	HP:0001324	Muscle weakness	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001324	HP:0001324	Muscle weakness	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0001324	HP:0001324	Muscle weakness	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001324	HP:0001324	Muscle weakness	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0001324	HP:0001324	Muscle weakness	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0001324	HP:0001324	Muscle weakness	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001324	HP:0001324	Muscle weakness	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0001324	HP:0001324	Muscle weakness	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0001324	HP:0001324	Muscle weakness	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0001324	HP:0001324	Muscle weakness	0	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3			180
HP:0001324	HP:0001324	Muscle weakness	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		180
HP:0001324	HP:0001324	Muscle weakness	0	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8			33
HP:0001324	HP:0001324	Muscle weakness	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		33
HP:0001324	HP:0001324	Muscle weakness	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0001324	HP:0001324	Muscle weakness	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0001324	HP:0001324	Muscle weakness	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.		18
HP:0001324	HP:0001324	Muscle weakness	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		18
HP:0001324	HP:0001324	Muscle weakness	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0001324	HP:0001324	Muscle weakness	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0001324	HP:0001324	Muscle weakness	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0001324	HP:0001324	Muscle weakness	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0001324	HP:0001324	Muscle weakness	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1			213
HP:0001324	HP:0001324	Muscle weakness	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0001324	HP:0001324	Muscle weakness	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		213
HP:0001324	HP:0001324	Muscle weakness	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0001324	HP:0001324	Muscle weakness	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0001324	HP:0001324	Muscle weakness	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0001324	HP:0001324	Muscle weakness	0	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2			221
HP:0001324	HP:0001324	Muscle weakness	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14			221
HP:0001324	HP:0001324	Muscle weakness	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		221
HP:0001324	HP:0001324	Muscle weakness	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0001324	HP:0001324	Muscle weakness	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0001324	HP:0001324	Muscle weakness	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0001324	HP:0001324	Muscle weakness	0	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0001324	HP:0001324	Muscle weakness	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0001324	HP:0001324	Muscle weakness	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0001324	HP:0001324	Muscle weakness	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent		41
HP:0001324	HP:0001324	Muscle weakness	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			2
HP:0001324	HP:0001324	Muscle weakness	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001324	HP:0001324	Muscle weakness	0	PREPL CL E G H	9581	30228	OMIM:616224	Myasthenic syndrome, congenital, 22	.		7
HP:0001324	HP:0001324	Muscle weakness	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0001324	HP:0001324	Muscle weakness	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		2
HP:0001324	HP:0001324	Muscle weakness	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		134
HP:0001324	HP:0001324	Muscle weakness	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		134
HP:0001324	HP:0001324	Muscle weakness	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001324	HP:0001324	Muscle weakness	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		134
HP:0001324	HP:0001324	Muscle weakness	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0001324	HP:0001324	Muscle weakness	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome			69
HP:0001324	HP:0001324	Muscle weakness	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0001324	HP:0001324	Muscle weakness	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0001324	HP:0001324	Muscle weakness	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0001324	HP:0001324	Muscle weakness	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001324	HP:0001324	Muscle weakness	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0001324	HP:0001324	Muscle weakness	0	PRPH CL E G H	5630	9461	OMIM:105400	Amyotrophic lateral sclerosis 1	.		25
HP:0001324	HP:0001324	Muscle weakness	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0001324	HP:0001324	Muscle weakness	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0001324	HP:0001324	Muscle weakness	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0001324	HP:0001324	Muscle weakness	0	PRPS1 CL E G H	5631	9462	ORPHA:99014	X-linked Charcot-Marie-Tooth disease type 5	HP:0040281 - Very frequent		49
HP:0001324	HP:0001324	Muscle weakness	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040281 - Very frequent		94
HP:0001324	HP:0001324	Muscle weakness	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia			94
HP:0001324	HP:0001324	Muscle weakness	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0001324	HP:0001324	Muscle weakness	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0001324	HP:0001324	Muscle weakness	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0001324	HP:0001324	Muscle weakness	0	PSAP CL E G H	5660	9498	OMIM:249900	Metachromatic leukodystrophy due to saposin B deficiency			81
HP:0001324	HP:0001324	Muscle weakness	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0001324	HP:0001324	Muscle weakness	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		81
HP:0001324	HP:0001324	Muscle weakness	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		81
HP:0001324	HP:0001324	Muscle weakness	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0001324	HP:0001324	Muscle weakness	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0001324	HP:0001324	Muscle weakness	0	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0001324	HP:0001324	Muscle weakness	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		291
HP:0001324	HP:0001324	Muscle weakness	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0001324	HP:0001324	Muscle weakness	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0001324	HP:0001324	Muscle weakness	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0001324	HP:0001324	Muscle weakness	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency			19
HP:0001324	HP:0001324	Muscle weakness	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001324	HP:0001324	Muscle weakness	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1			57
HP:0001324	HP:0001324	Muscle weakness	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional		166
HP:0001324	HP:0001324	Muscle weakness	0	PYGM CL E G H	5837	9726	OMIM:232600	Glycogen storage disease V			166
HP:0001324	HP:0001324	Muscle weakness	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0001324	HP:0001324	Muscle weakness	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0001324	HP:0001324	Muscle weakness	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		212
HP:0001324	HP:0001324	Muscle weakness	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001324	HP:0001324	Muscle weakness	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0001324	HP:0001324	Muscle weakness	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0001324	HP:0001324	Muscle weakness	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001324	HP:0001324	Muscle weakness	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		73
HP:0001324	HP:0001324	Muscle weakness	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		2
HP:0001324	HP:0001324	Muscle weakness	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0001324	HP:0001324	Muscle weakness	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0001324	HP:0001324	Muscle weakness	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0001324	HP:0001324	Muscle weakness	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		3
HP:0001324	HP:0001324	Muscle weakness	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001324	HP:0001324	Muscle weakness	0	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0001324	HP:0001324	Muscle weakness	0	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31			87
HP:0001324	HP:0001324	Muscle weakness	0	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5			87
HP:0001324	HP:0001324	Muscle weakness	0	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB			87
HP:0001324	HP:0001324	Muscle weakness	0	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant			87
HP:0001324	HP:0001324	Muscle weakness	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma			1
HP:0001324	HP:0001324	Muscle weakness	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0001324	HP:0001324	Muscle weakness	0	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
HP:0001324	HP:0001324	Muscle weakness	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001324	HP:0001324	Muscle weakness	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		39
HP:0001324	HP:0001324	Muscle weakness	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0001324	HP:0001324	Muscle weakness	0	RNASEH1 CL E G H	246243	18466	OMIM:616479	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	.		3
HP:0001324	HP:0001324	Muscle weakness	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0001324	HP:0001324	Muscle weakness	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional		65
HP:0001324	HP:0001324	Muscle weakness	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		1
HP:0001324	HP:0001324	Muscle weakness	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0001324	HP:0001324	Muscle weakness	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001324	HP:0001324	Muscle weakness	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0001324	HP:0001324	Muscle weakness	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0001324	HP:0001324	Muscle weakness	0	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant			25
HP:0001324	HP:0001324	Muscle weakness	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0001324	HP:0001324	Muscle weakness	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease			1200
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040283 - Occasional		1200
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement			1200
HP:0001324	HP:0001324	Muscle weakness	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001324	HP:0001324	Muscle weakness	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent		309
HP:0001324	HP:0001324	Muscle weakness	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type			309
HP:0001324	HP:0001324	Muscle weakness	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0001324	HP:0001324	Muscle weakness	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0001324	HP:0001324	Muscle weakness	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures	.
HP:0001324	HP:0001324	Muscle weakness	0	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0001324	HP:0001324	Muscle weakness	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0001324	Muscle weakness	0	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0001324	HP:0001324	Muscle weakness	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.		19
HP:0001324	HP:0001324	Muscle weakness	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040281 - Very frequent		1053
HP:0001324	HP:0001324	Muscle weakness	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0001324	HP:0001324	Muscle weakness	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0001324	HP:0001324	Muscle weakness	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis			263
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1	.		263
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2			263
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16			263
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:99735	Myotonia permanens	HP:0040283 - Occasional		263
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	OMIM:168300	Paramyotonia congenita of von eulenburg	.		263
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg			263
HP:0001324	HP:0001324	Muscle weakness	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		263
HP:0001324	HP:0001324	Muscle weakness	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0001324	HP:0001324	Muscle weakness	0	SCNN1A CL E G H	6337	10599	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent		67
HP:0001324	HP:0001324	Muscle weakness	0	SCNN1B CL E G H	6338	10600	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent		61
HP:0001324	HP:0001324	Muscle weakness	0	SCNN1G CL E G H	6340	10602	ORPHA:526	Liddle syndrome	HP:0040282 - Frequent		57
HP:0001324	HP:0001324	Muscle weakness	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0001324	HP:0001324	Muscle weakness	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0001324	HP:0001324	Muscle weakness	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0001324	HP:0001324	Muscle weakness	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001324	HP:0001324	Muscle weakness	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001324	HP:0001324	Muscle weakness	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0001324	HP:0001324	Muscle weakness	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0001324	HP:0001324	Muscle weakness	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001324	HP:0001324	Muscle weakness	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001324	HP:0001324	Muscle weakness	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0001324	HP:0001324	Muscle weakness	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001324	HP:0001324	Muscle weakness	0	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001324	HP:0001324	Muscle weakness	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001324	HP:0001324	Muscle weakness	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001324	HP:0001324	Muscle weakness	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001324	HP:0001324	Muscle weakness	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0001324	HP:0001324	Muscle weakness	0	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0001324	HP:0001324	Muscle weakness	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0001324	HP:0001324	Muscle weakness	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001324	HP:0001324	Muscle weakness	0	SEPTIN9 CL E G H	10801	7323	OMIM:162100	Amyotrophy, hereditary neuralgic	.
HP:0001324	HP:0001324	Muscle weakness	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1			64
HP:0001324	HP:0001324	Muscle weakness	0	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile			162
HP:0001324	HP:0001324	Muscle weakness	0	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4			162
HP:0001324	HP:0001324	Muscle weakness	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0001324	HP:0001324	Muscle weakness	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.		3
HP:0001324	HP:0001324	Muscle weakness	0	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3			132
HP:0001324	HP:0001324	Muscle weakness	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0001324	HP:0001324	Muscle weakness	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0001324	HP:0001324	Muscle weakness	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E			113
HP:0001324	HP:0001324	Muscle weakness	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6			223
HP:0001324	HP:0001324	Muscle weakness	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F			223
HP:0001324	HP:0001324	Muscle weakness	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0001324	HP:0001324	Muscle weakness	0	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C			83
HP:0001324	HP:0001324	Muscle weakness	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0001324	HP:0001324	Muscle weakness	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0001324	HP:0001324	Muscle weakness	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001324	HP:0001324	Muscle weakness	0	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.		6
HP:0001324	HP:0001324	Muscle weakness	0	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent		6
HP:0001324	HP:0001324	Muscle weakness	0	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2			6
HP:0001324	HP:0001324	Muscle weakness	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0001324	HP:0001324	Muscle weakness	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome			67
HP:0001324	HP:0001324	Muscle weakness	0	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome			67
HP:0001324	HP:0001324	Muscle weakness	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome			50
HP:0001324	HP:0001324	Muscle weakness	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome			50
HP:0001324	HP:0001324	Muscle weakness	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0001324	HP:0001324	Muscle weakness	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome			10
HP:0001324	HP:0001324	Muscle weakness	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0001324	HP:0001324	Muscle weakness	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0001324	HP:0001324	Muscle weakness	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent		145
HP:0001324	HP:0001324	Muscle weakness	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0001324	HP:0001324	Muscle weakness	0	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0001324	Muscle weakness	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0001324	HP:0001324	Muscle weakness	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0001324	HP:0001324	Muscle weakness	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001324	HP:0001324	Muscle weakness	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease			2
HP:0001324	HP:0001324	Muscle weakness	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0001324	HP:0001324	Muscle weakness	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic			2
HP:0001324	HP:0001324	Muscle weakness	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0001324	Muscle weakness	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0001324	HP:0001324	Muscle weakness	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001324	HP:0001324	Muscle weakness	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0001324	HP:0001324	Muscle weakness	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent		207
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.		28
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)	.		36
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.		40
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	HP:0040283 - Occasional		68
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2			68
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0001324	HP:0001324	Muscle weakness	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0001324	HP:0001324	Muscle weakness	0	SLC26A4 CL E G H	5172	8818	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		274
HP:0001324	HP:0001324	Muscle weakness	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease			1
HP:0001324	HP:0001324	Muscle weakness	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42			48
HP:0001324	HP:0001324	Muscle weakness	0	SLC33A1 CL E G H	9197	95	OMIM:612539	Spastic paraplegia 42, autosomal dominant	.		48
HP:0001324	HP:0001324	Muscle weakness	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.		47
HP:0001324	HP:0001324	Muscle weakness	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		47
HP:0001324	HP:0001324	Muscle weakness	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0001324	HP:0001324	Muscle weakness	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0001324	HP:0001324	Muscle weakness	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001324	HP:0001324	Muscle weakness	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001324	HP:0001324	Muscle weakness	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0001324	HP:0001324	Muscle weakness	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0001324	HP:0001324	Muscle weakness	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0001324	HP:0001324	Muscle weakness	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0001324	HP:0001324	Muscle weakness	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	.		109
HP:0001324	HP:0001324	Muscle weakness	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0001324	HP:0001324	Muscle weakness	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1			51
HP:0001324	HP:0001324	Muscle weakness	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0001324	HP:0001324	Muscle weakness	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001324	HP:0001324	Muscle weakness	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0001324	HP:0001324	Muscle weakness	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0001324	HP:0001324	Muscle weakness	0	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA			9
HP:0001324	HP:0001324	Muscle weakness	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001324	HP:0001324	Muscle weakness	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0001324	HP:0001324	Muscle weakness	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional		74
HP:0001324	HP:0001324	Muscle weakness	0	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor	HP:0040282 - Frequent		87
HP:0001324	HP:0001324	Muscle weakness	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0001324	HP:0001324	Muscle weakness	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0001324	HP:0001324	Muscle weakness	0	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0001324	HP:0001324	Muscle weakness	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0001324	HP:0001324	Muscle weakness	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001324	HP:0001324	Muscle weakness	0	SMN1 CL E G H	6606	11117	OMIM:253550	Spinal muscular atrophy, type II	.		22
HP:0001324	HP:0001324	Muscle weakness	0	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.		22
HP:0001324	HP:0001324	Muscle weakness	0	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV			22
HP:0001324	HP:0001324	Muscle weakness	0	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.		1
HP:0001324	HP:0001324	Muscle weakness	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0001324	HP:0001324	Muscle weakness	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.		164
HP:0001324	HP:0001324	Muscle weakness	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0001324	Muscle weakness	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.		2
HP:0001324	HP:0001324	Muscle weakness	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0001324	Muscle weakness	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome			94
HP:0001324	HP:0001324	Muscle weakness	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0001324	HP:0001324	Muscle weakness	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0001324	HP:0001324	Muscle weakness	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis			53
HP:0001324	HP:0001324	Muscle weakness	0	SOD1 CL E G H	6647	11179	OMIM:105400	Amyotrophic lateral sclerosis 1	.		53
HP:0001324	HP:0001324	Muscle weakness	0	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0001324	HP:0001324	Muscle weakness	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		315
HP:0001324	HP:0001324	Muscle weakness	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		30
HP:0001324	HP:0001324	Muscle weakness	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0001324	HP:0001324	Muscle weakness	0	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0001324	HP:0001324	Muscle weakness	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0001324	HP:0001324	Muscle weakness	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0001324	HP:0001324	Muscle weakness	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0001324	HP:0001324	Muscle weakness	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0001324	HP:0001324	Muscle weakness	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.		2
HP:0001324	HP:0001324	Muscle weakness	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0001324	HP:0001324	Muscle weakness	0	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0001324	HP:0001324	Muscle weakness	0	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0001324	HP:0001324	Muscle weakness	0	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0001324	HP:0001324	Muscle weakness	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0001324	HP:0001324	Muscle weakness	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0001324	HP:0001324	Muscle weakness	0	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0001324	HP:0001324	Muscle weakness	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0001324	HP:0001324	Muscle weakness	0	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0001324	HP:0001324	Muscle weakness	0	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent		287
HP:0001324	HP:0001324	Muscle weakness	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0001324	HP:0001324	Muscle weakness	0	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21			28
HP:0001324	HP:0001324	Muscle weakness	0	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0001324	HP:0001324	Muscle weakness	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0001324	HP:0001324	Muscle weakness	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0001324	HP:0001324	Muscle weakness	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0001324	HP:0001324	Muscle weakness	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent		28
HP:0001324	HP:0001324	Muscle weakness	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0001324	HP:0001324	Muscle weakness	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0001324	HP:0001324	Muscle weakness	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0001324	HP:0001324	Muscle weakness	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0001324	HP:0001324	Muscle weakness	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent		54
HP:0001324	HP:0001324	Muscle weakness	0	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040281 - Very frequent		54
HP:0001324	HP:0001324	Muscle weakness	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA			54
HP:0001324	HP:0001324	Muscle weakness	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040281 - Very frequent		149
HP:0001324	HP:0001324	Muscle weakness	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0001324	HP:0001324	Muscle weakness	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0001324	HP:0001324	Muscle weakness	0	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type			62
HP:0001324	HP:0001324	Muscle weakness	0	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0001324	HP:0001324	Muscle weakness	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease			62
HP:0001324	HP:0001324	Muscle weakness	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV			62
HP:0001324	HP:0001324	Muscle weakness	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0001324	HP:0001324	Muscle weakness	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	HP:0003577 - Congenital onset	14
HP:0001324	HP:0001324	Muscle weakness	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040281 - Very frequent		14
HP:0001324	HP:0001324	Muscle weakness	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0001324	HP:0001324	Muscle weakness	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		110
HP:0001324	HP:0001324	Muscle weakness	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional		2
HP:0001324	HP:0001324	Muscle weakness	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		12
HP:0001324	HP:0001324	Muscle weakness	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0001324	HP:0001324	Muscle weakness	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0001324	HP:0001324	Muscle weakness	0	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy			31
HP:0001324	HP:0001324	Muscle weakness	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0001324	HP:0001324	Muscle weakness	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0001324	HP:0001324	Muscle weakness	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0001324	HP:0001324	Muscle weakness	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001324	HP:0001324	Muscle weakness	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0001324	HP:0001324	Muscle weakness	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0001324	HP:0001324	Muscle weakness	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0001324	HP:0001324	Muscle weakness	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0001324	HP:0001324	Muscle weakness	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001324	HP:0001324	Muscle weakness	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0001324	HP:0001324	Muscle weakness	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001324	HP:0001324	Muscle weakness	0	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant			1129
HP:0001324	HP:0001324	Muscle weakness	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001324	HP:0001324	Muscle weakness	0	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant			508
HP:0001324	HP:0001324	Muscle weakness	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0001324	HP:0001324	Muscle weakness	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0001324	HP:0001324	Muscle weakness	0	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0001324	HP:0001324	Muscle weakness	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001324	HP:0001324	Muscle weakness	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001324	HP:0001324	Muscle weakness	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0001324	HP:0001324	Muscle weakness	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0001324	HP:0001324	Muscle weakness	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0001324	Muscle weakness	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001324	HP:0001324	Muscle weakness	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0001324	HP:0001324	Muscle weakness	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis			65
HP:0001324	HP:0001324	Muscle weakness	0	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0001324	HP:0001324	Muscle weakness	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease			65
HP:0001324	HP:0001324	Muscle weakness	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040281 - Very frequent		16
HP:0001324	HP:0001324	Muscle weakness	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0001324	HP:0001324	Muscle weakness	0	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome			52
HP:0001324	HP:0001324	Muscle weakness	0	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0001324	HP:0001324	Muscle weakness	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0001324	HP:0001324	Muscle weakness	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0001324	HP:0001324	Muscle weakness	0	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0001324	HP:0001324	Muscle weakness	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease			20
HP:0001324	HP:0001324	Muscle weakness	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		22
HP:0001324	HP:0001324	Muscle weakness	0	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G			78
HP:0001324	HP:0001324	Muscle weakness	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0001324	HP:0001324	Muscle weakness	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.		57
HP:0001324	HP:0001324	Muscle weakness	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0001324	HP:0001324	Muscle weakness	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		238
HP:0001324	HP:0001324	Muscle weakness	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0001324	HP:0001324	Muscle weakness	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0001324	HP:0001324	Muscle weakness	0	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0001324	HP:0001324	Muscle weakness	0	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type			18
HP:0001324	HP:0001324	Muscle weakness	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.		18
HP:0001324	HP:0001324	Muscle weakness	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040282 - Frequent		13
HP:0001324	HP:0001324	Muscle weakness	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0001324	HP:0001324	Muscle weakness	0	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35			58
HP:0001324	HP:0001324	Muscle weakness	0	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35			58
HP:0001324	HP:0001324	Muscle weakness	0	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0001324	HP:0001324	Muscle weakness	0	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type			5
HP:0001324	HP:0001324	Muscle weakness	0	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy			5
HP:0001324	HP:0001324	Muscle weakness	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent		1
HP:0001324	HP:0001324	Muscle weakness	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX	.		1
HP:0001324	HP:0001324	Muscle weakness	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0001324	HP:0001324	Muscle weakness	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0001324	HP:0001324	Muscle weakness	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0001324	HP:0001324	Muscle weakness	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040281 - Very frequent		103
HP:0001324	HP:0001324	Muscle weakness	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3			103
HP:0001324	HP:0001324	Muscle weakness	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0001324	HP:0001324	Muscle weakness	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.		4
HP:0001324	HP:0001324	Muscle weakness	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0001324	HP:0001324	Muscle weakness	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001324	HP:0001324	Muscle weakness	0	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant			171
HP:0001324	HP:0001324	Muscle weakness	0	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0001324	HP:0001324	Muscle weakness	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.		44
HP:0001324	HP:0001324	Muscle weakness	0	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0001324	HP:0001324	Muscle weakness	0	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0001324	HP:0001324	Muscle weakness	0	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0001324	HP:0001324	Muscle weakness	0	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0001324	HP:0001324	Muscle weakness	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent		134
HP:0001324	HP:0001324	Muscle weakness	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0001324	HP:0001324	Muscle weakness	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0001324	HP:0001324	Muscle weakness	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0001324	HP:0001324	Muscle weakness	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0001324	HP:0001324	Muscle weakness	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0001324	HP:0001324	Muscle weakness	0	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y	.		10
HP:0001324	HP:0001324	Muscle weakness	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent		911
HP:0001324	HP:0001324	Muscle weakness	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001324	HP:0001324	Muscle weakness	0	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency			28
HP:0001324	HP:0001324	Muscle weakness	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0001324	HP:0001324	Muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0001324	HP:0001324	Muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001324	HP:0001324	Muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001324	HP:0001324	Muscle weakness	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001324	HP:0001324	Muscle weakness	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0001324	HP:0001324	Muscle weakness	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0001324	HP:0001324	Muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0001324	HP:0001324	Muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001324	HP:0001324	Muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001324	HP:0001324	Muscle weakness	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0001324	HP:0001324	Muscle weakness	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001324	HP:0001324	Muscle weakness	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0001324	HP:0001324	Muscle weakness	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0001324	HP:0001324	Muscle weakness	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001324	HP:0001324	Muscle weakness	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0001324	HP:0001324	Muscle weakness	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0001324	HP:0001324	Muscle weakness	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0001324	HP:0001324	Muscle weakness	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0001324	HP:0001324	Muscle weakness	0	TRDN CL E G H	10345	12261	OMIM:615441	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5			145
HP:0001324	HP:0001324	Muscle weakness	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0001324	HP:0001324	Muscle weakness	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0001324	HP:0001324	Muscle weakness	0	TRH CL E G H	7200	12298	OMIM:275120	Thyrotropin-Releasing hormone deficiency	.		5
HP:0001324	HP:0001324	Muscle weakness	0	TRIM2 CL E G H	23321	15974	OMIM:615490	Charcot-Marie-Tooth disease, axonal, type 2R	.		3
HP:0001324	HP:0001324	Muscle weakness	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0001324	HP:0001324	Muscle weakness	0	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8			108
HP:0001324	HP:0001324	Muscle weakness	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0001324	HP:0001324	Muscle weakness	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0001324	HP:0001324	Muscle weakness	0	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type			4
HP:0001324	HP:0001324	Muscle weakness	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001324	HP:0001324	Muscle weakness	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0001324	HP:0001324	Muscle weakness	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome			7
HP:0001324	HP:0001324	Muscle weakness	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0001324	HP:0001324	Muscle weakness	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent		101
HP:0001324	HP:0001324	Muscle weakness	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0001324	HP:0001324	Muscle weakness	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0001324	HP:0001324	Muscle weakness	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0001324	HP:0001324	Muscle weakness	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0001324	HP:0001324	Muscle weakness	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0001324	Muscle weakness	0	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0001324	HP:0001324	Muscle weakness	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0001324	Muscle weakness	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001324	HP:0001324	Muscle weakness	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0001324	Muscle weakness	0	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0001324	HP:0001324	Muscle weakness	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001324	HP:0001324	Muscle weakness	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0001324	Muscle weakness	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0001324	HP:0001324	Muscle weakness	0	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.		2
HP:0001324	HP:0001324	Muscle weakness	0	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001324	HP:0001324	Muscle weakness	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0001324	HP:0001324	Muscle weakness	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0001324	HP:0001324	Muscle weakness	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0001324	HP:0001324	Muscle weakness	0	TSHR CL E G H	7253	12373	ORPHA:95713	Athyreosis	HP:0040281 - Very frequent		97
HP:0001324	HP:0001324	Muscle weakness	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.		88
HP:0001324	HP:0001324	Muscle weakness	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0001324	HP:0001324	Muscle weakness	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001324	HP:0001324	Muscle weakness	0	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0001324	HP:0001324	Muscle weakness	0	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10			7128
HP:0001324	HP:0001324	Muscle weakness	0	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0001324	Muscle weakness	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy			7128
HP:0001324	HP:0001324	Muscle weakness	0	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy			7128
HP:0001324	HP:0001324	Muscle weakness	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040281 - Very frequent		62
HP:0001324	HP:0001324	Muscle weakness	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0001324	HP:0001324	Muscle weakness	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0001324	HP:0001324	Muscle weakness	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0001324	HP:0001324	Muscle weakness	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001324	HP:0001324	Muscle weakness	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.		113
HP:0001324	HP:0001324	Muscle weakness	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0001324	HP:0001324	Muscle weakness	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001324	HP:0001324	Muscle weakness	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0001324	HP:0001324	Muscle weakness	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0001324	HP:0001324	Muscle weakness	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0001324	HP:0001324	Muscle weakness	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy			35
HP:0001324	HP:0001324	Muscle weakness	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0001324	HP:0001324	Muscle weakness	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0001324	HP:0001324	Muscle weakness	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001324	HP:0001324	Muscle weakness	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0001324	HP:0001324	Muscle weakness	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type			13
HP:0001324	HP:0001324	Muscle weakness	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0001324	HP:0001324	Muscle weakness	0	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth
HP:0001324	HP:0001324	Muscle weakness	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0001324	HP:0001324	Muscle weakness	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001324	HP:0001324	Muscle weakness	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001324	HP:0001324	Muscle weakness	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001324	HP:0001324	Muscle weakness	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001324	HP:0001324	Muscle weakness	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0001324	Muscle weakness	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis			116
HP:0001324	HP:0001324	Muscle weakness	0	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0001324	HP:0001324	Muscle weakness	0	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included			116
HP:0001324	HP:0001324	Muscle weakness	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001324	HP:0001324	Muscle weakness	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001324	HP:0001324	Muscle weakness	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0001324	HP:0001324	Muscle weakness	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis			63
HP:0001324	HP:0001324	Muscle weakness	0	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia	.		63
HP:0001324	HP:0001324	Muscle weakness	0	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0001324	HP:0001324	Muscle weakness	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease			63
HP:0001324	HP:0001324	Muscle weakness	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0001324	HP:0001324	Muscle weakness	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0001324	HP:0001324	Muscle weakness	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0001324	HP:0001324	Muscle weakness	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0001324	HP:0001324	Muscle weakness	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0001324	HP:0001324	Muscle weakness	0	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy			10
HP:0001324	HP:0001324	Muscle weakness	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS			130
HP:0001324	HP:0001324	Muscle weakness	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0001324	HP:0001324	Muscle weakness	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4
HP:0001324	HP:0001324	Muscle weakness	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0001324	HP:0001324	Muscle weakness	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0001324	HP:0001324	Muscle weakness	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A	.		32
HP:0001324	HP:0001324	Muscle weakness	0	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0001324	Muscle weakness	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0001324	HP:0001324	Muscle weakness	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent		2
HP:0001324	HP:0001324	Muscle weakness	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0001324	HP:0001324	Muscle weakness	0	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0001324	HP:0001324	Muscle weakness	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0001324	HP:0001324	Muscle weakness	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0001324	HP:0001324	Muscle weakness	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.		8
HP:0001324	HP:0001324	Muscle weakness	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26			4
HP:0001324	HP:0001324	Muscle weakness	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U			125
HP:0001324	HP:0001324	Muscle weakness	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0001324	HP:0001324	Muscle weakness	0	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0001324	HP:0001324	Muscle weakness	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001324	HP:0001324	Muscle weakness	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0001324	HP:0001324	Muscle weakness	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001324	HP:0001324	Muscle weakness	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0001324	HP:0001324	Muscle weakness	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040282 - Frequent		1
HP:0001324	HP:0001324	Muscle weakness	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0001324	HP:0001324	Muscle weakness	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001324	HP:0001324	Muscle weakness	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0001324	HP:0001324	Muscle weakness	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0001324	HP:0001324	Muscle weakness	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0001324	HP:0001324	Muscle weakness	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0001324	HP:0001324	Muscle weakness	0	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant			52
HP:0001324	HP:0001324	Muscle weakness	0	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0001324	HP:0001324	Muscle weakness	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0001324	HP:0002460	Distal muscle weakness	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0001324	HP:0003690	Limb muscle weakness	1	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0001324	HP:0002421	Poor head control	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001324	HP:0003324	Generalized muscle weakness	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8	.		143
HP:0001324	HP:0002460	Distal muscle weakness	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent		191
HP:0001324	HP:0010628	Facial palsy	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0001324	HP:0010628	Facial palsy	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0001324	HP:0003324	Generalized muscle weakness	1	ABCB6 CL E G H	10058	47	OMIM:609153	Pseudohyperkalemia, familial, 2, due to red cell leak			20
HP:0001324	HP:0001283	Bulbar palsy	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0001324	HP:0003690	Limb muscle weakness	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0001324	HP:0002460	Distal muscle weakness	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0001324	HP:0003690	Limb muscle weakness	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0001324	HP:0002460	Distal muscle weakness	1	ABHD16A CL E G H	7920	13921	OMIM:619735	SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001324	HP:0003323	Progressive muscle weakness	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0001324	HP:0003701	Proximal muscle weakness	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0001324	HP:0003324	Generalized muscle weakness	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0001324	HP:0003473	Fatigable weakness	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0001324	HP:0003473	Fatigable weakness	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		197
HP:0001324	HP:0003701	Proximal muscle weakness	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		197
HP:0001324	HP:0010628	Facial palsy	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0001324	HP:0003701	Proximal muscle weakness	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0001324	HP:0003690	Limb muscle weakness	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0001324	HP:0000467	Neck muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0003473	Fatigable weakness	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001324	HP:0003690	Limb muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001324	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001324	HP:0002421	Poor head control	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0003323	Progressive muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent		96
HP:0001324	HP:0003324	Generalized muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001324	HP:0003473	Fatigable weakness	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001324	HP:0003690	Limb muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0004878	Intercostal muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0003324	Generalized muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent		96
HP:0001324	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0001283	Bulbar palsy	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0001324	HP:0003324	Generalized muscle weakness	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0001324	HP:0003701	Proximal muscle weakness	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001324	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0001324	HP:0000467	Neck muscle weakness	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0001324	HP:0003323	Progressive muscle weakness	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0001324	HP:0003690	Limb muscle weakness	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0001324	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0001324	HP:0000467	Neck muscle weakness	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001324	HP:0001283	Bulbar palsy	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001324	HP:0002460	Distal muscle weakness	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001324	HP:0003324	Generalized muscle weakness	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001324	HP:0003690	Limb muscle weakness	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001324	HP:0003701	Proximal muscle weakness	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001324	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001324	HP:0000467	Neck muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040281 - Very frequent		96
HP:0001324	HP:0002421	Poor head control	1	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		96
HP:0001324	HP:0003701	Proximal muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome			96
HP:0001324	HP:0003327	Axial muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0000467	Neck muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0003327	Axial muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0003473	Fatigable weakness	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0001324	HP:0003690	Limb muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0001324	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0000467	Neck muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent		96
HP:0001324	HP:0002460	Distal muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent		96
HP:0001324	HP:0003327	Axial muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent		96
HP:0001324	HP:0003701	Proximal muscle weakness	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent		96
HP:0001324	HP:0010628	Facial palsy	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent		96
HP:0001324	HP:0002421	Poor head control	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0002460	Distal muscle weakness	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0001324	HP:0003701	Proximal muscle weakness	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0001324	HP:0002460	Distal muscle weakness	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6			307
HP:0001324	HP:0003690	Limb muscle weakness	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6			307
HP:0001324	HP:0003701	Proximal muscle weakness	1	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6			307
HP:0001324	HP:0003324	Generalized muscle weakness	1	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040282 - Frequent		13
HP:0001324	HP:0010628	Facial palsy	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome	.		22
HP:0001324	HP:0003690	Limb muscle weakness	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0001324	HP:0000467	Neck muscle weakness	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0001324	HP:0003324	Generalized muscle weakness	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0001324	HP:0002421	Poor head control	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0001324	HP:0010628	Facial palsy	1	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8			2
HP:0001324	HP:0010628	Facial palsy	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria			88
HP:0001324	HP:0002460	Distal muscle weakness	1	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001324	HP:0003690	Limb muscle weakness	1	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001324	HP:0003701	Proximal muscle weakness	1	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001324	HP:0010628	Facial palsy	1	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5	.
HP:0001324	HP:0002460	Distal muscle weakness	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0001324	HP:0003690	Limb muscle weakness	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome			86
HP:0001324	HP:0003701	Proximal muscle weakness	1	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8	.		127
HP:0001324	HP:0000467	Neck muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0003473	Fatigable weakness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0003690	Limb muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0003701	Proximal muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0010628	Facial palsy	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0001324	HP:0031374	Ankle weakness	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0001324	HP:0000467	Neck muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		127
HP:0001324	HP:0001283	Bulbar palsy	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0001324	HP:0002421	Poor head control	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0001324	HP:0002460	Distal muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0003324	Generalized muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0001324	HP:0003473	Fatigable weakness	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		127
HP:0001324	HP:0003690	Limb muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0003701	Proximal muscle weakness	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		127
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0010628	Facial palsy	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0001324	HP:0002421	Poor head control	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0001324	HP:0003324	Generalized muscle weakness	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040281 - Very frequent		60
HP:0001324	HP:0002460	Distal muscle weakness	1	AIFM1 CL E G H	9131	8768	ORPHA:101078	X-linked Charcot-Marie-Tooth disease type 4	HP:0040281 - Very frequent		60
HP:0001324	HP:0000467	Neck muscle weakness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0001324	HP:0003473	Fatigable weakness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0001324	HP:0003690	Limb muscle weakness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0001324	HP:0003701	Proximal muscle weakness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0001324	HP:0010628	Facial palsy	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		1
HP:0001324	HP:0031374	Ankle weakness	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0001324	HP:0003690	Limb muscle weakness	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0001324	HP:0010628	Facial palsy	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0001324	HP:0003690	Limb muscle weakness	1	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional		62
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic			62
HP:0001324	HP:0002460	Distal muscle weakness	1	ALDH18A1 CL E G H	5832	9722	OMIM:601162	Spastic paraplegia 9A, autosomal dominant			89
HP:0001324	HP:0003690	Limb muscle weakness	1	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive			89
HP:0001324	HP:0002421	Poor head control	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional		96
HP:0001324	HP:0002421	Poor head control	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		12
HP:0001324	HP:0002460	Distal muscle weakness	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040284 - Very rare		12
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		12
HP:0001324	HP:0003473	Fatigable weakness	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		12
HP:0001324	HP:0003701	Proximal muscle weakness	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		12
HP:0001324	HP:0010628	Facial palsy	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		12
HP:0001324	HP:0003473	Fatigable weakness	1	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15			12
HP:0001324	HP:0002421	Poor head control	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		46
HP:0001324	HP:0002460	Distal muscle weakness	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040284 - Very rare		46
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		46
HP:0001324	HP:0003473	Fatigable weakness	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		46
HP:0001324	HP:0003701	Proximal muscle weakness	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		46
HP:0001324	HP:0010628	Facial palsy	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		46
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	.		46
HP:0001324	HP:0003473	Fatigable weakness	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	.		46
HP:0001324	HP:0003701	Proximal muscle weakness	1	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14			46
HP:0001324	HP:0002460	Distal muscle weakness	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0001324	HP:0003701	Proximal muscle weakness	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile			114
HP:0001324	HP:0000467	Neck muscle weakness	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			114
HP:0001324	HP:0002460	Distal muscle weakness	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		114
HP:0001324	HP:0003701	Proximal muscle weakness	1	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0001324	HP:0010628	Facial palsy	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001324	HP:0010628	Facial palsy	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040283 - Occasional		34
HP:0001324	HP:0003690	Limb muscle weakness	1	AMPD1 CL E G H	270	468	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent		62
HP:0001324	HP:0003690	Limb muscle weakness	1	AMPD3 CL E G H	272	470	ORPHA:45	Adenosine monophosphate deaminase deficiency	HP:0040281 - Very frequent		65
HP:0001324	HP:0003324	Generalized muscle weakness	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		32
HP:0001324	HP:0003473	Fatigable weakness	1	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis			32
HP:0001324	HP:0002460	Distal muscle weakness	1	ANG CL E G H	283	483	OMIM:611895	Amyotrophic lateral sclerosis 9			32
HP:0001324	HP:0010628	Facial palsy	1	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		164
HP:0001324	HP:0010628	Facial palsy	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.		164
HP:0001324	HP:0002460	Distal muscle weakness	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0001324	HP:0003690	Limb muscle weakness	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0001324	HP:0003701	Proximal muscle weakness	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0001324	HP:0010628	Facial palsy	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0001324	HP:0002460	Distal muscle weakness	1	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy			304
HP:0001324	HP:0003323	Progressive muscle weakness	1	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040281 - Very frequent		304
HP:0001324	HP:0003690	Limb muscle weakness	1	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy			304
HP:0001324	HP:0003701	Proximal muscle weakness	1	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy			304
HP:0001324	HP:0002460	Distal muscle weakness	1	ANO5 CL E G H	203859	27337	OMIM:613319	Miyoshi muscular dystrophy 3	.		304
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L			304
HP:0001324	HP:0003701	Proximal muscle weakness	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.		304
HP:0001324	HP:0010628	Facial palsy	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.		304
HP:0001324	HP:0003324	Generalized muscle weakness	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0001324	HP:0003473	Fatigable weakness	1	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0003690	Limb muscle weakness	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001324	HP:0003701	Proximal muscle weakness	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001324	HP:0002421	Poor head control	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0001324	HP:0002421	Poor head control	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0001324	HP:0003690	Limb muscle weakness	1	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48			165
HP:0001324	HP:0003690	Limb muscle weakness	1	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive			165
HP:0001324	HP:0001283	Bulbar palsy	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.		125
HP:0001324	HP:0003690	Limb muscle weakness	1	AR CL E G H	367	644	OMIM:313200	Spinal and bulbar muscular atrophy, X-linked 1	.		125
HP:0001324	HP:0003701	Proximal muscle weakness	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0001324	HP:0001283	Bulbar palsy	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0001324	HP:0002421	Poor head control	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001324	HP:0002421	Poor head control	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0001324	HP:0002421	Poor head control	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		166
HP:0001324	HP:0003701	Proximal muscle weakness	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy			78
HP:0001324	HP:0010628	Facial palsy	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0001324	HP:0003690	Limb muscle weakness	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0001324	HP:0002421	Poor head control	1	ASPA CL E G H	443	756	ORPHA:314918	Mild Canavan disease	HP:0040283 - Occasional		48
HP:0001324	HP:0002421	Poor head control	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040281 - Very frequent		48
HP:0001324	HP:0002460	Distal muscle weakness	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0001324	HP:0003690	Limb muscle weakness	1	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0001324	HP:0002460	Distal muscle weakness	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		71
HP:0001324	HP:0003690	Limb muscle weakness	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			71
HP:0001324	HP:0003690	Limb muscle weakness	1	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant			71
HP:0001324	HP:0002460	Distal muscle weakness	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		5
HP:0001324	HP:0003690	Limb muscle weakness	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			5
HP:0001324	HP:0003324	Generalized muscle weakness	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional		100
HP:0001324	HP:0002460	Distal muscle weakness	1	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD			4
HP:0001324	HP:0003690	Limb muscle weakness	1	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD			4
HP:0001324	HP:0002460	Distal muscle weakness	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0001324	HP:0002421	Poor head control	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0001324	HP:0002421	Poor head control	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0001324	HP:0003690	Limb muscle weakness	1	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001324	HP:0003690	Limb muscle weakness	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0001324	HP:0002460	Distal muscle weakness	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0001324	HP:0003690	Limb muscle weakness	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0001324	HP:0003701	Proximal muscle weakness	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0001324	HP:0003701	Proximal muscle weakness	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0001324	HP:0002421	Poor head control	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001324	HP:0002421	Poor head control	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0001324	HP:0002460	Distal muscle weakness	1	ATP7A CL E G H	538	869	OMIM:300489	Spinal muscular atrophy, distal, X-linked 3	.		192
HP:0001324	HP:0003690	Limb muscle weakness	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0001324	HP:0003690	Limb muscle weakness	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0001324	HP:0003701	Proximal muscle weakness	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0001324	HP:0003473	Fatigable weakness	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001324	HP:0001283	Bulbar palsy	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0001324	HP:0002460	Distal muscle weakness	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0001324	HP:0003701	Proximal muscle weakness	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0001324	HP:0003324	Generalized muscle weakness	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		11
HP:0001324	HP:0003473	Fatigable weakness	1	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0001324	HP:0002460	Distal muscle weakness	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0001324	HP:0009113	Diaphragmatic weakness	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0001324	HP:0010628	Facial palsy	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0001324	HP:0003690	Limb muscle weakness	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0001324	HP:0010628	Facial palsy	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0001324	HP:0002460	Distal muscle weakness	1	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040282 - Frequent		46
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0001324	HP:0003701	Proximal muscle weakness	1	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040282 - Frequent		46
HP:0001324	HP:0001283	Bulbar palsy	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001324	HP:0002460	Distal muscle weakness	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001324	HP:0003327	Axial muscle weakness	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.		46
HP:0001324	HP:0003690	Limb muscle weakness	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001324	HP:0003701	Proximal muscle weakness	1	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0001324	HP:0010628	Facial palsy	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001324	HP:0003690	Limb muscle weakness	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001324	HP:0003701	Proximal muscle weakness	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001324	HP:0003323	Progressive muscle weakness	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001324	HP:0003701	Proximal muscle weakness	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0001324	HP:0010628	Facial palsy	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001324	HP:0002460	Distal muscle weakness	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0001324	HP:0003327	Axial muscle weakness	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0001324	HP:0003701	Proximal muscle weakness	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001324	HP:0010628	Facial palsy	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0001324	HP:0010628	Facial palsy	1	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional		1
HP:0001324	HP:0002421	Poor head control	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0001324	HP:0003473	Fatigable weakness	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001324	HP:0003690	Limb muscle weakness	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17			105
HP:0001324	HP:0031374	Ankle weakness	1	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040283 - Occasional		105
HP:0001324	HP:0002460	Distal muscle weakness	1	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5			105
HP:0001324	HP:0003690	Limb muscle weakness	1	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5			105
HP:0001324	HP:0002460	Distal muscle weakness	1	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C			105
HP:0001324	HP:0003690	Limb muscle weakness	1	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C			105
HP:0001324	HP:0002460	Distal muscle weakness	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.		105
HP:0001324	HP:0003690	Limb muscle weakness	1	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17			105
HP:0001324	HP:0003690	Limb muscle weakness	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0001324	HP:0003701	Proximal muscle weakness	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0001324	HP:0010628	Facial palsy	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0001324	HP:0010628	Facial palsy	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.		1
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25			2
HP:0001324	HP:0003690	Limb muscle weakness	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25			2
HP:0001324	HP:0003701	Proximal muscle weakness	1	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25	.		2
HP:0001324	HP:0002460	Distal muscle weakness	1	C19ORF12 CL E G H	83636	25443	ORPHA:320370	Autosomal recessive spastic paraplegia type 43	HP:0040281 - Very frequent		114
HP:0001324	HP:0002460	Distal muscle weakness	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0001324	HP:0003324	Generalized muscle weakness	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		56
HP:0001324	HP:0003473	Fatigable weakness	1	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis			56
HP:0001324	HP:0001283	Bulbar palsy	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		56
HP:0001324	HP:0002460	Distal muscle weakness	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		56
HP:0001324	HP:0003701	Proximal muscle weakness	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		56
HP:0001324	HP:0002460	Distal muscle weakness	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0001324	HP:0002421	Poor head control	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0001324	HP:0002421	Poor head control	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001324	HP:0002421	Poor head control	1	CACNA1G CL E G H	8913	1394	OMIM:618087	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	.		32
HP:0001324	HP:0003473	Fatigable weakness	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0001324	HP:0003701	Proximal muscle weakness	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0001324	HP:0010547	Muscle flaccidity	1	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis			247
HP:0001324	HP:0010547	Muscle flaccidity	1	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1			247
HP:0001324	HP:0003690	Limb muscle weakness	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0001324	HP:0003701	Proximal muscle weakness	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0001324	HP:0010547	Muscle flaccidity	1	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis			247
HP:0001324	HP:0002421	Poor head control	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0001324	HP:0002460	Distal muscle weakness	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0001324	HP:0003690	Limb muscle weakness	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0001324	HP:0002421	Poor head control	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001324	HP:0003690	Limb muscle weakness	1	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76			4
HP:0001324	HP:0003690	Limb muscle weakness	1	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0001324	HP:0003324	Generalized muscle weakness	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040281 - Very frequent		323
HP:0001324	HP:0003690	Limb muscle weakness	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1			323
HP:0001324	HP:0003701	Proximal muscle weakness	1	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0001324	HP:0003701	Proximal muscle weakness	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.		323
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	CAPN3 CL E G H	825	1480	OMIM:618129	Muscular dystrophy, limb-girdle, autosomal dominant 4	.		323
HP:0001324	HP:0003690	Limb muscle weakness	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A			323
HP:0001324	HP:0010628	Facial palsy	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A	HP:0040283 - Occasional		323
HP:0001324	HP:0002421	Poor head control	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		118
HP:0001324	HP:0003701	Proximal muscle weakness	1	CASQ1 CL E G H	844	1512	OMIM:616231	Myopathy, vacuolar, with CASQ1 aggregates	.		5
HP:0001324	HP:0003473	Fatigable weakness	1	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		5
HP:0001324	HP:0003473	Fatigable weakness	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent		272
HP:0001324	HP:0003690	Limb muscle weakness	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0001324	HP:0000467	Neck muscle weakness	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040284 - Very rare		148
HP:0001324	HP:0002460	Distal muscle weakness	1	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type			148
HP:0001324	HP:0000467	Neck muscle weakness	1	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type	HP:0040283 - Occasional		148
HP:0001324	HP:0003324	Generalized muscle weakness	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0001324	HP:0003701	Proximal muscle weakness	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001324	HP:0003324	Generalized muscle weakness	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040282 - Frequent		1
HP:0001324	HP:0002460	Distal muscle weakness	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0001324	HP:0003690	Limb muscle weakness	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0001324	HP:0003324	Generalized muscle weakness	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0001324	HP:0003473	Fatigable weakness	1	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0003690	Limb muscle weakness	1	CCNF CL E G H	899	1591	OMIM:619141	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5; FTDALS5
HP:0001324	HP:0003690	Limb muscle weakness	1	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	.		3
HP:0001324	HP:0003473	Fatigable weakness	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001324	HP:0002421	Poor head control	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001324	HP:0002421	Poor head control	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent		405
HP:0001324	HP:0002421	Poor head control	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		405
HP:0001324	HP:0002421	Poor head control	1	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001324	HP:0002421	Poor head control	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001324	HP:0003324	Generalized muscle weakness	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0001324	HP:0003473	Fatigable weakness	1	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0000467	Neck muscle weakness	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	.		35
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0001324	HP:0003690	Limb muscle weakness	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0001324	HP:0003701	Proximal muscle weakness	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0001324	HP:0000467	Neck muscle weakness	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		35
HP:0001324	HP:0003327	Axial muscle weakness	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		35
HP:0001324	HP:0003473	Fatigable weakness	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0001324	HP:0003690	Limb muscle weakness	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0001324	HP:0010628	Facial palsy	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		35
HP:0001324	HP:0001283	Bulbar palsy	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0001324	HP:0003473	Fatigable weakness	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic			65
HP:0001324	HP:0000467	Neck muscle weakness	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		65
HP:0001324	HP:0001283	Bulbar palsy	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0001324	HP:0002421	Poor head control	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0001324	HP:0002460	Distal muscle weakness	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001324	HP:0003324	Generalized muscle weakness	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0001324	HP:0003473	Fatigable weakness	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		65
HP:0001324	HP:0003690	Limb muscle weakness	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		65
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001324	HP:0010628	Facial palsy	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001324	HP:0003324	Generalized muscle weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		11
HP:0001324	HP:0003473	Fatigable weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis			11
HP:0001324	HP:0000467	Neck muscle weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0001324	HP:0002460	Distal muscle weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0001324	HP:0003690	Limb muscle weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0001324	HP:0001283	Bulbar palsy	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	.		11
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHCHD10 CL E G H	400916	15559	OMIM:615911	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	HP:0040283 - Occasional		11
HP:0001324	HP:0001283	Bulbar palsy	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		11
HP:0001324	HP:0002460	Distal muscle weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		11
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		11
HP:0001324	HP:0002460	Distal muscle weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0001324	HP:0003690	Limb muscle weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0001324	HP:0000467	Neck muscle weakness	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0001324	HP:0003690	Limb muscle weakness	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant			11
HP:0001324	HP:0010628	Facial palsy	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.		11
HP:0001324	HP:0010628	Facial palsy	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0001324	HP:0010628	Facial palsy	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0001324	HP:0010628	Facial palsy	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0001324	HP:0003324	Generalized muscle weakness	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		42
HP:0001324	HP:0003473	Fatigable weakness	1	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis			42
HP:0001324	HP:0002460	Distal muscle weakness	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0001324	HP:0003324	Generalized muscle weakness	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.		74
HP:0001324	HP:0003473	Fatigable weakness	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.		74
HP:0001324	HP:0003690	Limb muscle weakness	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0001324	HP:0009113	Diaphragmatic weakness	1	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0001324	HP:0000467	Neck muscle weakness	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0001324	HP:0001283	Bulbar palsy	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0001324	HP:0003324	Generalized muscle weakness	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0001324	HP:0003690	Limb muscle weakness	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel			74
HP:0001324	HP:0010628	Facial palsy	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0001324	HP:0000467	Neck muscle weakness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0001324	HP:0003473	Fatigable weakness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0001324	HP:0003690	Limb muscle weakness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0001324	HP:0010628	Facial palsy	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		74
HP:0001324	HP:0031374	Ankle weakness	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0001324	HP:0002421	Poor head control	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0001324	HP:0003473	Fatigable weakness	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0001324	HP:0003690	Limb muscle weakness	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel			53
HP:0001324	HP:0010628	Facial palsy	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel	.		53
HP:0001324	HP:0000467	Neck muscle weakness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0001324	HP:0003473	Fatigable weakness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0001324	HP:0003690	Limb muscle weakness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0001324	HP:0010628	Facial palsy	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		53
HP:0001324	HP:0031374	Ankle weakness	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0001324	HP:0002421	Poor head control	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel			88
HP:0001324	HP:0003324	Generalized muscle weakness	1	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel	.		88
HP:0001324	HP:0000467	Neck muscle weakness	1	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.		88
HP:0001324	HP:0010628	Facial palsy	1	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	.		88
HP:0001324	HP:0010628	Facial palsy	1	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency	.		88
HP:0001324	HP:0000467	Neck muscle weakness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0001324	HP:0003473	Fatigable weakness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0001324	HP:0003690	Limb muscle weakness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0001324	HP:0010628	Facial palsy	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		88
HP:0001324	HP:0031374	Ankle weakness	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0001324	HP:0001283	Bulbar palsy	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0001324	HP:0003473	Fatigable weakness	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0001324	HP:0003690	Limb muscle weakness	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel			139
HP:0001324	HP:0000467	Neck muscle weakness	1	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.		139
HP:0001324	HP:0010628	Facial palsy	1	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel	.		139
HP:0001324	HP:0003473	Fatigable weakness	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0001324	HP:0010628	Facial palsy	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0001324	HP:0000467	Neck muscle weakness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0001324	HP:0003473	Fatigable weakness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0001324	HP:0003690	Limb muscle weakness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0001324	HP:0003701	Proximal muscle weakness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0001324	HP:0010628	Facial palsy	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		139
HP:0001324	HP:0031374	Ankle weakness	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0001324	HP:0010628	Facial palsy	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent		102
HP:0001324	HP:0010628	Facial palsy	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.		102
HP:0001324	HP:0010628	Facial palsy	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0001324	HP:0003324	Generalized muscle weakness	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.		27
HP:0001324	HP:0002421	Poor head control	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040282 - Frequent		7
HP:0001324	HP:0002421	Poor head control	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001324	HP:0000467	Neck muscle weakness	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2			1
HP:0001324	HP:0003701	Proximal muscle weakness	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.		1
HP:0001324	HP:0002421	Poor head control	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001324	HP:0010628	Facial palsy	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0001324	HP:0010628	Facial palsy	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001324	HP:0002460	Distal muscle weakness	1	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0001324	HP:0003690	Limb muscle weakness	1	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
HP:0001324	HP:0003324	Generalized muscle weakness	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001324	HP:0003473	Fatigable weakness	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001324	HP:0002421	Poor head control	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040282 - Frequent		39
HP:0001324	HP:0000467	Neck muscle weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0001324	HP:0002460	Distal muscle weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0001324	HP:0003323	Progressive muscle weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0001324	HP:0003327	Axial muscle weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0001324	HP:0003690	Limb muscle weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL12A1 CL E G H	1303	2188	OMIM:616471	Bethlem myopathy 2			65
HP:0001324	HP:0003324	Generalized muscle weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		65
HP:0001324	HP:0009113	Diaphragmatic weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0001324	HP:0003324	Generalized muscle weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040282 - Frequent		65
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional		65
HP:0001324	HP:0010628	Facial palsy	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2			65
HP:0001324	HP:0001283	Bulbar palsy	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.		6
HP:0001324	HP:0002421	Poor head control	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	.		6
HP:0001324	HP:0010628	Facial palsy	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19	HP:0040283 - Occasional		6
HP:0001324	HP:0000467	Neck muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0003473	Fatigable weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0003690	Limb muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0010628	Facial palsy	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0001324	HP:0031374	Ankle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001324	HP:0000467	Neck muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		6
HP:0001324	HP:0001283	Bulbar palsy	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0001324	HP:0002421	Poor head control	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001324	HP:0002460	Distal muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0003324	Generalized muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001324	HP:0003473	Fatigable weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		6
HP:0001324	HP:0003690	Limb muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		6
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0010628	Facial palsy	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0010547	Muscle flaccidity	1	COL1A1 CL E G H	1277	2197	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		373
HP:0001324	HP:0010547	Muscle flaccidity	1	COL1A2 CL E G H	1278	2198	ORPHA:1899	Arthrochalasia Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0001324	HP:0010628	Facial palsy	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0001324	HP:0003690	Limb muscle weakness	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0001324	HP:0000467	Neck muscle weakness	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0001324	HP:0002460	Distal muscle weakness	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0001324	HP:0003323	Progressive muscle weakness	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0001324	HP:0003327	Axial muscle weakness	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0001324	HP:0003690	Limb muscle weakness	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0001324	HP:0002460	Distal muscle weakness	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0001324	HP:0003324	Generalized muscle weakness	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		442
HP:0001324	HP:0009113	Diaphragmatic weakness	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1			442
HP:0001324	HP:0010628	Facial palsy	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0001324	HP:0000467	Neck muscle weakness	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0001324	HP:0002460	Distal muscle weakness	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0001324	HP:0003323	Progressive muscle weakness	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0001324	HP:0003327	Axial muscle weakness	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0001324	HP:0003690	Limb muscle weakness	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0001324	HP:0002460	Distal muscle weakness	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0001324	HP:0003324	Generalized muscle weakness	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		478
HP:0001324	HP:0009113	Diaphragmatic weakness	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0001324	HP:0002460	Distal muscle weakness	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.		478
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.		478
HP:0001324	HP:0010628	Facial palsy	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive	.		478
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1			478
HP:0001324	HP:0010628	Facial palsy	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0001324	HP:0000467	Neck muscle weakness	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0001324	HP:0002460	Distal muscle weakness	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0001324	HP:0003323	Progressive muscle weakness	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0001324	HP:0003327	Axial muscle weakness	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0001324	HP:0003690	Limb muscle weakness	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0001324	HP:0002460	Distal muscle weakness	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0001324	HP:0003324	Generalized muscle weakness	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040281 - Very frequent		702
HP:0001324	HP:0009113	Diaphragmatic weakness	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1			702
HP:0001324	HP:0010628	Facial palsy	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0001324	HP:0003701	Proximal muscle weakness	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0001324	HP:0003324	Generalized muscle weakness	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0001324	HP:0003473	Fatigable weakness	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0001324	HP:0003690	Limb muscle weakness	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5			90
HP:0001324	HP:0000467	Neck muscle weakness	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0001324	HP:0002421	Poor head control	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0001324	HP:0002460	Distal muscle weakness	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0001324	HP:0003324	Generalized muscle weakness	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		90
HP:0001324	HP:0003327	Axial muscle weakness	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		90
HP:0001324	HP:0003701	Proximal muscle weakness	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		90
HP:0001324	HP:0010628	Facial palsy	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		90
HP:0001324	HP:0003323	Progressive muscle weakness	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0001324	HP:0003701	Proximal muscle weakness	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040282 - Frequent		136
HP:0001324	HP:0003701	Proximal muscle weakness	1	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	.		136
HP:0001324	HP:0000467	Neck muscle weakness	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0003473	Fatigable weakness	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0003690	Limb muscle weakness	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0003701	Proximal muscle weakness	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0003690	Limb muscle weakness	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0001324	HP:0000467	Neck muscle weakness	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0003473	Fatigable weakness	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0003690	Limb muscle weakness	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0003701	Proximal muscle weakness	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0002421	Poor head control	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001324	HP:0003690	Limb muscle weakness	1	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D			4
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0001324	HP:0002460	Distal muscle weakness	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent		72
HP:0001324	HP:0003690	Limb muscle weakness	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0001324	HP:0003701	Proximal muscle weakness	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0001324	HP:0002460	Distal muscle weakness	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0001324	HP:0003690	Limb muscle weakness	1	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0001324	HP:0003701	Proximal muscle weakness	1	CPT1C CL E G H	126129	18540	OMIM:616282	Spastic paraplegia 73, autosomal dominant	.		1
HP:0001324	HP:0010628	Facial palsy	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.		24
HP:0001324	HP:0003324	Generalized muscle weakness	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0001324	HP:0010628	Facial palsy	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040281 - Very frequent
HP:0001324	HP:0003690	Limb muscle weakness	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0001324	HP:0003701	Proximal muscle weakness	1	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0001324	HP:0000467	Neck muscle weakness	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent		46
HP:0001324	HP:0002460	Distal muscle weakness	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0001324	HP:0003323	Progressive muscle weakness	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent		46
HP:0001324	HP:0003327	Axial muscle weakness	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent		46
HP:0001324	HP:0003690	Limb muscle weakness	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0001324	HP:0003701	Proximal muscle weakness	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0001324	HP:0010628	Facial palsy	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0001324	HP:0000467	Neck muscle weakness	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.		46
HP:0001324	HP:0002460	Distal muscle weakness	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.		46
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.		46
HP:0001324	HP:0003690	Limb muscle weakness	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0001324	HP:0003701	Proximal muscle weakness	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0001324	HP:0002421	Poor head control	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001324	HP:0003690	Limb muscle weakness	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0001324	HP:0003690	Limb muscle weakness	1	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A			57
HP:0001324	HP:0003690	Limb muscle weakness	1	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0001324	HP:0003701	Proximal muscle weakness	1	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16			108
HP:0001324	HP:0002421	Poor head control	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent		108
HP:0001324	HP:0002421	Poor head control	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.		108
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.		108
HP:0001324	HP:0003701	Proximal muscle weakness	1	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9			108
HP:0001324	HP:0002421	Poor head control	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001324	HP:0003324	Generalized muscle weakness	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0001324	HP:0003473	Fatigable weakness	1	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0002460	Distal muscle weakness	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040282 - Frequent		60
HP:0001324	HP:0002460	Distal muscle weakness	1	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.		2
HP:0001324	HP:0003324	Generalized muscle weakness	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		86
HP:0001324	HP:0003473	Fatigable weakness	1	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis			86
HP:0001324	HP:0002460	Distal muscle weakness	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.		86
HP:0001324	HP:0003690	Limb muscle weakness	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB			86
HP:0001324	HP:0010628	Facial palsy	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.		86
HP:0001324	HP:0003690	Limb muscle weakness	1	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28			35
HP:0001324	HP:0003690	Limb muscle weakness	1	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive			35
HP:0001324	HP:0002460	Distal muscle weakness	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0001324	HP:0003690	Limb muscle weakness	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0001324	HP:0000467	Neck muscle weakness	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001324	HP:0002460	Distal muscle weakness	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001324	HP:0003323	Progressive muscle weakness	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040281 - Very frequent		263
HP:0001324	HP:0003327	Axial muscle weakness	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040281 - Very frequent		263
HP:0001324	HP:0003473	Fatigable weakness	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001324	HP:0003690	Limb muscle weakness	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001324	HP:0000467	Neck muscle weakness	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.		263
HP:0001324	HP:0001283	Bulbar palsy	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.		263
HP:0001324	HP:0002460	Distal muscle weakness	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.		263
HP:0001324	HP:0003701	Proximal muscle weakness	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001324	HP:0010628	Facial palsy	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.		263
HP:0001324	HP:0003690	Limb muscle weakness	1	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type			263
HP:0001324	HP:0003704	Scapuloperoneal weakness	1	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	.		263
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040282 - Frequent		57
HP:0001324	HP:0003690	Limb muscle weakness	1	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency			57
HP:0001324	HP:0002460	Distal muscle weakness	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0001324	HP:0003701	Proximal muscle weakness	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.		57
HP:0001324	HP:0002421	Poor head control	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0001324	HP:0002421	Poor head control	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0001324	HP:0002460	Distal muscle weakness	1	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0040281 - Very frequent		21
HP:0001324	HP:0002460	Distal muscle weakness	1	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q			12
HP:0001324	HP:0003690	Limb muscle weakness	1	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q			12
HP:0001324	HP:0002421	Poor head control	1	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0001324	HP:0003473	Fatigable weakness	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0001324	HP:0010628	Facial palsy	1	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional		9
HP:0001324	HP:0003323	Progressive muscle weakness	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0001324	HP:0003701	Proximal muscle weakness	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0001324	HP:0003701	Proximal muscle weakness	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0001324	HP:0003324	Generalized muscle weakness	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001324	HP:0003690	Limb muscle weakness	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001324	HP:0003701	Proximal muscle weakness	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001324	HP:0010628	Facial palsy	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0001324	HP:0002421	Poor head control	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0001324	HP:0003690	Limb muscle weakness	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0001324	HP:0003701	Proximal muscle weakness	1	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome			3
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040281 - Very frequent		41
HP:0001324	HP:0003701	Proximal muscle weakness	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0001324	HP:0003701	Proximal muscle weakness	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6			41
HP:0001324	HP:0010628	Facial palsy	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0001324	HP:0003690	Limb muscle weakness	1	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5			30
HP:0001324	HP:0003324	Generalized muscle weakness	1	DNAJB6 CL E G H	10049	14888	ORPHA:34516	DNAJB6-related limb-girdle muscular dystrophy D1	HP:0040281 - Very frequent		103
HP:0001324	HP:0001283	Bulbar palsy	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	HP:0040283 - Occasional		103
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0001324	HP:0003701	Proximal muscle weakness	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E			103
HP:0001324	HP:0010628	Facial palsy	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	HP:0040283 - Occasional		103
HP:0001324	HP:0002421	Poor head control	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0001324	HP:0003690	Limb muscle weakness	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001324	HP:0003701	Proximal muscle weakness	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001324	HP:0002460	Distal muscle weakness	1	DNM2 CL E G H	1785	2974	OMIM:606482	Charcot-Marie-Tooth disease, dominant intermediate B			167
HP:0001324	HP:0002460	Distal muscle weakness	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0001324	HP:0003690	Limb muscle weakness	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0001324	HP:0003701	Proximal muscle weakness	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.		167
HP:0001324	HP:0010628	Facial palsy	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0001324	HP:0003690	Limb muscle weakness	1	DNMT3B CL E G H	1789	2979	OMIM:619478	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4			79
HP:0001324	HP:0001283	Bulbar palsy	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.		91
HP:0001324	HP:0003327	Axial muscle weakness	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0001324	HP:0003473	Fatigable weakness	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.		91
HP:0001324	HP:0003701	Proximal muscle weakness	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0001324	HP:0000467	Neck muscle weakness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0001324	HP:0003473	Fatigable weakness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0001324	HP:0003690	Limb muscle weakness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0001324	HP:0003701	Proximal muscle weakness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0001324	HP:0010628	Facial palsy	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		91
HP:0001324	HP:0031374	Ankle weakness	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0001324	HP:0003323	Progressive muscle weakness	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001324	HP:0002421	Poor head control	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		38
HP:0001324	HP:0002460	Distal muscle weakness	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040284 - Very rare		38
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		38
HP:0001324	HP:0003473	Fatigable weakness	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		38
HP:0001324	HP:0003701	Proximal muscle weakness	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		38
HP:0001324	HP:0010628	Facial palsy	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		38
HP:0001324	HP:0003473	Fatigable weakness	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates			38
HP:0001324	HP:0003701	Proximal muscle weakness	1	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates			38
HP:0001324	HP:0002421	Poor head control	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0001324	HP:0003701	Proximal muscle weakness	1	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15			9
HP:0001324	HP:0003324	Generalized muscle weakness	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0001324	HP:0003690	Limb muscle weakness	1	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23			13
HP:0001324	HP:0003690	Limb muscle weakness	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040282 - Frequent		65
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease			65
HP:0001324	HP:0002460	Distal muscle weakness	1	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.		427
HP:0001324	HP:0003690	Limb muscle weakness	1	DYNC1H1 CL E G H	1778	2961	OMIM:614228	Charcot-marie-tooth disease, axonal, type 2O	.		427
HP:0001324	HP:0003690	Limb muscle weakness	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0001324	HP:0003701	Proximal muscle weakness	1	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant			427
HP:0001324	HP:0002460	Distal muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0001324	HP:0003323	Progressive muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040283 - Occasional		600
HP:0001324	HP:0003690	Limb muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0001324	HP:0003701	Proximal muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0001324	HP:0000467	Neck muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0001324	HP:0002460	Distal muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0001324	HP:0003690	Limb muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0001324	HP:0003701	Proximal muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0001324	HP:0002460	Distal muscle weakness	1	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.		600
HP:0001324	HP:0003690	Limb muscle weakness	1	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1			600
HP:0001324	HP:0002460	Distal muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0001324	HP:0003690	Limb muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0001324	HP:0003701	Proximal muscle weakness	1	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0001324	HP:0003701	Proximal muscle weakness	1	DYSF CL E G H	8291	3097	OMIM:253601	Muscular dystrophy, limb-girdle, type 2B	.		600
HP:0001324	HP:0002460	Distal muscle weakness	1	DYSF CL E G H	8291	3097	OMIM:606768	Myopathy, distal, with anterior tibial onset	.		600
HP:0001324	HP:0002421	Poor head control	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001324	HP:0002421	Poor head control	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0001324	HP:0002460	Distal muscle weakness	1	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D	.		58
HP:0001324	HP:0003690	Limb muscle weakness	1	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D			58
HP:0001324	HP:0002460	Distal muscle weakness	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0001324	HP:0003690	Limb muscle weakness	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0001324	HP:0003701	Proximal muscle weakness	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0001324	HP:0002460	Distal muscle weakness	1	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.		58
HP:0001324	HP:0003690	Limb muscle weakness	1	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive			58
HP:0001324	HP:0002460	Distal muscle weakness	1	ELOVL5 CL E G H	60481	21308	ORPHA:423296	Spinocerebellar ataxia type 38	HP:0040283 - Occasional		4
HP:0001324	HP:0002421	Poor head control	1	ELP2 CL E G H	55250	18248	OMIM:617270	Mental retardation, autosomal recessive 58			6
HP:0001324	HP:0003690	Limb muscle weakness	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001324	HP:0003701	Proximal muscle weakness	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001324	HP:0002460	Distal muscle weakness	1	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0001324	HP:0003690	Limb muscle weakness	1	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0001324	HP:0003324	Generalized muscle weakness	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		4
HP:0001324	HP:0003473	Fatigable weakness	1	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0001324	HP:0003324	Generalized muscle weakness	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		15
HP:0001324	HP:0003473	Fatigable weakness	1	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis			15
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19			15
HP:0001324	HP:0003690	Limb muscle weakness	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001324	HP:0002460	Distal muscle weakness	1	ERLIN2 CL E G H	11160	1356	ORPHA:209951	Autosomal recessive spastic paraplegia type 18	HP:0040281 - Very frequent		18
HP:0001324	HP:0003690	Limb muscle weakness	1	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive			18
HP:0001324	HP:0002421	Poor head control	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.		38
HP:0001324	HP:0002421	Poor head control	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001324	HP:0003324	Generalized muscle weakness	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001324	HP:0002460	Distal muscle weakness	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001324	HP:0003690	Limb muscle weakness	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001324	HP:0010628	Facial palsy	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040283 - Occasional		135
HP:0001324	HP:0010628	Facial palsy	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional		135
HP:0001324	HP:0010628	Facial palsy	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1			135
HP:0001324	HP:0000467	Neck muscle weakness	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional		76
HP:0001324	HP:0003690	Limb muscle weakness	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35			76
HP:0001324	HP:0002421	Poor head control	1	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0001324	HP:0002460	Distal muscle weakness	1	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0001324	HP:0003690	Limb muscle weakness	1	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0001324	HP:0002460	Distal muscle weakness	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3			63
HP:0001324	HP:0003690	Limb muscle weakness	1	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0001324	HP:0003701	Proximal muscle weakness	1	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0001324	HP:0002460	Distal muscle weakness	1	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0001324	HP:0003690	Limb muscle weakness	1	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0001324	HP:0002421	Poor head control	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001324	HP:0002421	Poor head control	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001324	HP:0003324	Generalized muscle weakness	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.		51
HP:0001324	HP:0003701	Proximal muscle weakness	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.		68
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0001324	HP:0003701	Proximal muscle weakness	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.		68
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe			68
HP:0001324	HP:0003701	Proximal muscle weakness	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.		68
HP:0001324	HP:0003704	Scapuloperoneal weakness	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.		68
HP:0001324	HP:0003690	Limb muscle weakness	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant			68
HP:0001324	HP:0003701	Proximal muscle weakness	1	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.		68
HP:0001324	HP:0003690	Limb muscle weakness	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001324	HP:0003701	Proximal muscle weakness	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001324	HP:0003324	Generalized muscle weakness	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		111
HP:0001324	HP:0003473	Fatigable weakness	1	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis			111
HP:0001324	HP:0002460	Distal muscle weakness	1	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J			111
HP:0001324	HP:0002421	Poor head control	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.	HP:0011463 - Childhood onset	13
HP:0001324	HP:0002421	Poor head control	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040281 - Very frequent		13
HP:0001324	HP:0003701	Proximal muscle weakness	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		157
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		157
HP:0001324	HP:0003327	Axial muscle weakness	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0001324	HP:0003473	Fatigable weakness	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			157
HP:0001324	HP:0010628	Facial palsy	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		157
HP:0001324	HP:0003324	Generalized muscle weakness	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		157
HP:0001324	HP:0010628	Facial palsy	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			157
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9			157
HP:0001324	HP:0003701	Proximal muscle weakness	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040281 - Very frequent		157
HP:0001324	HP:0002421	Poor head control	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0001324	HP:0003324	Generalized muscle weakness	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5			157
HP:0001324	HP:0003701	Proximal muscle weakness	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0001324	HP:0010628	Facial palsy	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0001324	HP:0003701	Proximal muscle weakness	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0001324	HP:0003701	Proximal muscle weakness	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X	.		184
HP:0001324	HP:0003324	Generalized muscle weakness	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		184
HP:0001324	HP:0010628	Facial palsy	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			184
HP:0001324	HP:0003324	Generalized muscle weakness	1	FKTN CL E G H	2218	3622	OMIM:613152	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4			184
HP:0001324	HP:0003701	Proximal muscle weakness	1	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4			184
HP:0001324	HP:0003701	Proximal muscle weakness	1	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	.		18
HP:0001324	HP:0003690	Limb muscle weakness	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0001324	HP:0002460	Distal muscle weakness	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001324	HP:0003473	Fatigable weakness	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001324	HP:0003690	Limb muscle weakness	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001324	HP:0003701	Proximal muscle weakness	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001324	HP:0003701	Proximal muscle weakness	1	FLNC CL E G H	2318	3756	OMIM:609524	Filaminopathy, autosomal dominant	.		197
HP:0001324	HP:0003701	Proximal muscle weakness	1	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.		197
HP:0001324	HP:0002460	Distal muscle weakness	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0001324	HP:0002421	Poor head control	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0001324	HP:0010628	Facial palsy	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0001324	HP:0003324	Generalized muscle weakness	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		105
HP:0001324	HP:0003473	Fatigable weakness	1	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis			105
HP:0001324	HP:0001283	Bulbar palsy	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		105
HP:0001324	HP:0002460	Distal muscle weakness	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		105
HP:0001324	HP:0003701	Proximal muscle weakness	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		105
HP:0001324	HP:0000467	Neck muscle weakness	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			105
HP:0001324	HP:0002460	Distal muscle weakness	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0001324	HP:0003701	Proximal muscle weakness	1	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0001324	HP:0003690	Limb muscle weakness	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0001324	HP:0003701	Proximal muscle weakness	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001324	HP:0003324	Generalized muscle weakness	1	FXYD2 CL E G H	486	4026	OMIM:154020	Hypomagnesemia 2, renal	.		17
HP:0001324	HP:0002421	Poor head control	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001324	HP:0003324	Generalized muscle weakness	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0001324	HP:0003701	Proximal muscle weakness	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0001324	HP:0003690	Limb muscle weakness	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0001324	HP:0003701	Proximal muscle weakness	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0001324	HP:0009113	Diaphragmatic weakness	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0001324	HP:0002421	Poor head control	1	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.		5
HP:0001324	HP:0002421	Poor head control	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001324	HP:0002421	Poor head control	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0001324	HP:0003690	Limb muscle weakness	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001324	HP:0003701	Proximal muscle weakness	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001324	HP:0010547	Muscle flaccidity	1	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis
HP:0001324	HP:0002421	Poor head control	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001324	HP:0002421	Poor head control	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0001324	HP:0002421	Poor head control	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0001324	HP:0003690	Limb muscle weakness	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0001324	HP:0000467	Neck muscle weakness	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare		160
HP:0001324	HP:0002421	Poor head control	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0001324	HP:0003690	Limb muscle weakness	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0001324	HP:0002460	Distal muscle weakness	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040282 - Frequent		121
HP:0001324	HP:0003690	Limb muscle weakness	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040283 - Occasional		121
HP:0001324	HP:0003701	Proximal muscle weakness	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040281 - Very frequent		121
HP:0001324	HP:0010628	Facial palsy	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy	HP:0040282 - Frequent		121
HP:0001324	HP:0002460	Distal muscle weakness	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0001324	HP:0003701	Proximal muscle weakness	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0001324	HP:0010628	Facial palsy	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive	.		121
HP:0001324	HP:0002460	Distal muscle weakness	1	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0001324	HP:0003690	Limb muscle weakness	1	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D
HP:0001324	HP:0002460	Distal muscle weakness	1	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0001324	HP:0003690	Limb muscle weakness	1	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0001324	HP:0002460	Distal muscle weakness	1	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0001324	HP:0003690	Limb muscle weakness	1	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA
HP:0001324	HP:0002460	Distal muscle weakness	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001324	HP:0003690	Limb muscle weakness	1	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001324	HP:0003701	Proximal muscle weakness	1	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3			86
HP:0001324	HP:0003690	Limb muscle weakness	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0001324	HP:0002460	Distal muscle weakness	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0001324	HP:0003690	Limb muscle weakness	1	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A
HP:0001324	HP:0002460	Distal muscle weakness	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0001324	HP:0002460	Distal muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	HP:0040282 - Frequent		108
HP:0001324	HP:0003701	Proximal muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	HP:0040282 - Frequent		108
HP:0001324	HP:0002460	Distal muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0003690	Limb muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0003701	Proximal muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0002460	Distal muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001324	HP:0003690	Limb muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001324	HP:0003701	Proximal muscle weakness	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001324	HP:0002460	Distal muscle weakness	1	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		108
HP:0001324	HP:0003701	Proximal muscle weakness	1	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		108
HP:0001324	HP:0002460	Distal muscle weakness	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive	.		108
HP:0001324	HP:0003690	Limb muscle weakness	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0001324	HP:0003701	Proximal muscle weakness	1	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0001324	HP:0003690	Limb muscle weakness	1	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.		108
HP:0001324	HP:0002460	Distal muscle weakness	1	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A			108
HP:0001324	HP:0002421	Poor head control	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0001324	HP:0003690	Limb muscle weakness	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0001324	HP:0002421	Poor head control	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent		43
HP:0001324	HP:0002421	Poor head control	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		128
HP:0001324	HP:0002460	Distal muscle weakness	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040284 - Very rare		128
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		128
HP:0001324	HP:0003473	Fatigable weakness	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		128
HP:0001324	HP:0003701	Proximal muscle weakness	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		128
HP:0001324	HP:0010628	Facial palsy	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		128
HP:0001324	HP:0003473	Fatigable weakness	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0001324	HP:0003701	Proximal muscle weakness	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0001324	HP:0010628	Facial palsy	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0001324	HP:0000467	Neck muscle weakness	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.		128
HP:0001324	HP:0003473	Fatigable weakness	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.		128
HP:0001324	HP:0003701	Proximal muscle weakness	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1			128
HP:0001324	HP:0010628	Facial palsy	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.		128
HP:0001324	HP:0003323	Progressive muscle weakness	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001324	HP:0002460	Distal muscle weakness	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0003323	Progressive muscle weakness	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0003473	Fatigable weakness	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0003690	Limb muscle weakness	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0003701	Proximal muscle weakness	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0001283	Bulbar palsy	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0001324	HP:0002460	Distal muscle weakness	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0001324	HP:0010628	Facial palsy	1	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		68
HP:0001324	HP:0010628	Facial palsy	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.		68
HP:0001324	HP:0002460	Distal muscle weakness	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0001324	HP:0003690	Limb muscle weakness	1	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0001324	HP:0003690	Limb muscle weakness	1	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia			107
HP:0001324	HP:0002421	Poor head control	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2			37
HP:0001324	HP:0010628	Facial palsy	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2	.		37
HP:0001324	HP:0003324	Generalized muscle weakness	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		45
HP:0001324	HP:0003473	Fatigable weakness	1	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis			45
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0001324	HP:0010628	Facial palsy	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0001324	HP:0003324	Generalized muscle weakness	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0001324	HP:0003473	Fatigable weakness	1	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0002421	Poor head control	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0001324	HP:0003701	Proximal muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		34
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		34
HP:0001324	HP:0003327	Axial muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0001324	HP:0003473	Fatigable weakness	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			34
HP:0001324	HP:0010628	Facial palsy	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		34
HP:0001324	HP:0002421	Poor head control	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		34
HP:0001324	HP:0002460	Distal muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040284 - Very rare		34
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		34
HP:0001324	HP:0003473	Fatigable weakness	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		34
HP:0001324	HP:0003701	Proximal muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent		34
HP:0001324	HP:0010628	Facial palsy	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		34
HP:0001324	HP:0000467	Neck muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001324	HP:0002460	Distal muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0001324	HP:0003327	Axial muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001324	HP:0003473	Fatigable weakness	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0001324	HP:0003690	Limb muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0001324	HP:0003701	Proximal muscle weakness	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0001324	HP:0002421	Poor head control	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.		34
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0001324	HP:0003701	Proximal muscle weakness	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	.		34
HP:0001324	HP:0003473	Fatigable weakness	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent		16
HP:0001324	HP:0002421	Poor head control	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		36
HP:0001324	HP:0002421	Poor head control	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.		36
HP:0001324	HP:0003701	Proximal muscle weakness	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0001324	HP:0003690	Limb muscle weakness	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0001324	HP:0003690	Limb muscle weakness	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001324	HP:0002421	Poor head control	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional		7
HP:0001324	HP:0002460	Distal muscle weakness	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0001324	HP:0003690	Limb muscle weakness	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0001324	HP:0010628	Facial palsy	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040283 - Occasional		173
HP:0001324	HP:0002460	Distal muscle weakness	1	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy	.		173
HP:0001324	HP:0003690	Limb muscle weakness	1	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy			173
HP:0001324	HP:0002421	Poor head control	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001324	HP:0002421	Poor head control	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.		18
HP:0001324	HP:0002460	Distal muscle weakness	1	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001324	HP:0002460	Distal muscle weakness	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0001324	HP:0002421	Poor head control	1	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0001324	HP:0002421	Poor head control	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		108
HP:0001324	HP:0002421	Poor head control	1	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040282 - Frequent		434
HP:0001324	HP:0002421	Poor head control	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0002421	Poor head control	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		5
HP:0001324	HP:0010628	Facial palsy	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent		53
HP:0001324	HP:0001283	Bulbar palsy	1	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type	.		53
HP:0001324	HP:0002460	Distal muscle weakness	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0001324	HP:0000467	Neck muscle weakness	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0001324	HP:0003690	Limb muscle weakness	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0001324	HP:0002460	Distal muscle weakness	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2	HP:0040283 - Occasional		18
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2	.		18
HP:0001324	HP:0003690	Limb muscle weakness	1	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2			18
HP:0001324	HP:0003701	Proximal muscle weakness	1	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001324	HP:0002421	Poor head control	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001324	HP:0003323	Progressive muscle weakness	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent		2
HP:0001324	HP:0003324	Generalized muscle weakness	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001324	HP:0003473	Fatigable weakness	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001324	HP:0003690	Limb muscle weakness	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001324	HP:0004878	Intercostal muscle weakness	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0002460	Distal muscle weakness	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001324	HP:0003324	Generalized muscle weakness	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0001324	HP:0003324	Generalized muscle weakness	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0001324	HP:0003690	Limb muscle weakness	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001324	HP:0002460	Distal muscle weakness	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001324	HP:0003324	Generalized muscle weakness	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0001324	HP:0003324	Generalized muscle weakness	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0001324	HP:0003690	Limb muscle weakness	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001324	HP:0002460	Distal muscle weakness	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0001324	HP:0003690	Limb muscle weakness	1	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0001324	HP:0002460	Distal muscle weakness	1	HARS1 CL E G H	3035	4816	OMIM:616625	Charcot-Marie-Tooth disease, axonal, type 2W
HP:0001324	HP:0002421	Poor head control	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0003690	Limb muscle weakness	1	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0001324	HP:0003701	Proximal muscle weakness	1	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0001324	HP:0002460	Distal muscle weakness	1	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0001324	HP:0003701	Proximal muscle weakness	1	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form			80
HP:0001324	HP:0002460	Distal muscle weakness	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0001324	HP:0003473	Fatigable weakness	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0001324	HP:0003690	Limb muscle weakness	1	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0001324	HP:0003690	Limb muscle weakness	1	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive			12
HP:0001324	HP:0002421	Poor head control	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43			13
HP:0001324	HP:0002460	Distal muscle weakness	1	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G			11
HP:0001324	HP:0003690	Limb muscle weakness	1	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G			11
HP:0001324	HP:0003701	Proximal muscle weakness	1	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040282 - Frequent		11
HP:0001324	HP:0001283	Bulbar palsy	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0001324	HP:0010628	Facial palsy	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0001324	HP:0002460	Distal muscle weakness	1	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.		11
HP:0001324	HP:0003701	Proximal muscle weakness	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0001324	HP:0010628	Facial palsy	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0001324	HP:0002460	Distal muscle weakness	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0001324	HP:0003690	Limb muscle weakness	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0001324	HP:0003701	Proximal muscle weakness	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0001324	HP:0003324	Generalized muscle weakness	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		31
HP:0001324	HP:0003473	Fatigable weakness	1	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0001324	HP:0003690	Limb muscle weakness	1	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3			31
HP:0001324	HP:0003701	Proximal muscle weakness	1	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3	.		31
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3			31
HP:0001324	HP:0002460	Distal muscle weakness	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0001324	HP:0003701	Proximal muscle weakness	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		31
HP:0001324	HP:0002460	Distal muscle weakness	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent		5
HP:0001324	HP:0003701	Proximal muscle weakness	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent		5
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		5
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G			5
HP:0001324	HP:0010628	Facial palsy	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.		2
HP:0001324	HP:0002421	Poor head control	1	HPRT1 CL E G H	3251	5157	OMIM:300322	Lesch-Nyhan syndrome			76
HP:0001324	HP:0002421	Poor head control	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0001324	HP:0003690	Limb muscle weakness	1	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F			47
HP:0001324	HP:0002460	Distal muscle weakness	1	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.		47
HP:0001324	HP:0003690	Limb muscle weakness	1	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F			47
HP:0001324	HP:0002460	Distal muscle weakness	1	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB			47
HP:0001324	HP:0003690	Limb muscle weakness	1	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB			47
HP:0001324	HP:0002460	Distal muscle weakness	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.		13
HP:0001324	HP:0003690	Limb muscle weakness	1	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC			13
HP:0001324	HP:0002460	Distal muscle weakness	1	HSPB8 CL E G H	26353	30171	OMIM:608673	Charcot-Marie-Tooth disease, axonal, type 2L	.		38
HP:0001324	HP:0002460	Distal muscle weakness	1	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.		38
HP:0001324	HP:0003690	Limb muscle weakness	1	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA			38
HP:0001324	HP:0003690	Limb muscle weakness	1	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13			46
HP:0001324	HP:0003690	Limb muscle weakness	1	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant			46
HP:0001324	HP:0003690	Limb muscle weakness	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0001324	HP:0003701	Proximal muscle weakness	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0001324	HP:0003324	Generalized muscle weakness	1	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0001324	HP:0003690	Limb muscle weakness	1	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5
HP:0001324	HP:0002460	Distal muscle weakness	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0001324	HP:0003690	Limb muscle weakness	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0001324	HP:0002421	Poor head control	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001324	HP:0002421	Poor head control	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0001324	HP:0003690	Limb muscle weakness	1	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S			209
HP:0001324	HP:0003701	Proximal muscle weakness	1	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	HP:0040283 - Occasional		209
HP:0001324	HP:0002460	Distal muscle weakness	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001324	HP:0003690	Limb muscle weakness	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001324	HP:0009113	Diaphragmatic weakness	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001324	HP:0002460	Distal muscle weakness	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0001324	HP:0002460	Distal muscle weakness	1	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.		135
HP:0001324	HP:0003690	Limb muscle weakness	1	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E			135
HP:0001324	HP:0002421	Poor head control	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0001324	HP:0010547	Muscle flaccidity	1	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		7
HP:0001324	HP:0003701	Proximal muscle weakness	1	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability			7
HP:0001324	HP:0002421	Poor head control	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0001324	HP:0002460	Distal muscle weakness	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type			19
HP:0001324	HP:0002421	Poor head control	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0001324	HP:0003323	Progressive muscle weakness	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent		127
HP:0001324	HP:0003324	Generalized muscle weakness	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001324	HP:0003473	Fatigable weakness	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001324	HP:0003690	Limb muscle weakness	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0001324	HP:0004878	Intercostal muscle weakness	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001324	HP:0003701	Proximal muscle weakness	1	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency			127
HP:0001324	HP:0010628	Facial palsy	1	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional		124
HP:0001324	HP:0002460	Distal muscle weakness	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0003690	Limb muscle weakness	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0003701	Proximal muscle weakness	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0000467	Neck muscle weakness	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0002460	Distal muscle weakness	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0003690	Limb muscle weakness	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0003701	Proximal muscle weakness	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0002460	Distal muscle weakness	1	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		1
HP:0001324	HP:0003701	Proximal muscle weakness	1	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.		1
HP:0001324	HP:0003690	Limb muscle weakness	1	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B
HP:0001324	HP:0000467	Neck muscle weakness	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0001324	HP:0003473	Fatigable weakness	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001324	HP:0003690	Limb muscle weakness	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		80
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001324	HP:0010628	Facial palsy	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001324	HP:0000467	Neck muscle weakness	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6			80
HP:0001324	HP:0003690	Limb muscle weakness	1	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.		80
HP:0001324	HP:0002421	Poor head control	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		145
HP:0001324	HP:0002421	Poor head control	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0002421	Poor head control	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0001324	HP:0002421	Poor head control	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0001324	HP:0003473	Fatigable weakness	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0001324	HP:0003701	Proximal muscle weakness	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0001324	HP:0010547	Muscle flaccidity	1	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis			73
HP:0001324	HP:0003324	Generalized muscle weakness	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0001324	HP:0003690	Limb muscle weakness	1	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome			121
HP:0001324	HP:0003690	Limb muscle weakness	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0001324	HP:0003701	Proximal muscle weakness	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0001324	HP:0010547	Muscle flaccidity	1	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis			10
HP:0001324	HP:0010547	Muscle flaccidity	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0001324	HP:0010547	Muscle flaccidity	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0001324	HP:0003473	Fatigable weakness	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type			4
HP:0001324	HP:0002460	Distal muscle weakness	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0001324	HP:0003690	Limb muscle weakness	1	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0001324	HP:0003690	Limb muscle weakness	1	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive			276
HP:0001324	HP:0002460	Distal muscle weakness	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.		202
HP:0001324	HP:0003690	Limb muscle weakness	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.		202
HP:0001324	HP:0010628	Facial palsy	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1			202
HP:0001324	HP:0003690	Limb muscle weakness	1	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10			93
HP:0001324	HP:0003690	Limb muscle weakness	1	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant			93
HP:0001324	HP:0010628	Facial palsy	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001324	HP:0003327	Axial muscle weakness	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0001324	HP:0010628	Facial palsy	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0001324	HP:0000467	Neck muscle weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0003473	Fatigable weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001324	HP:0003690	Limb muscle weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		13
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001324	HP:0010628	Facial palsy	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001324	HP:0003324	Generalized muscle weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent		13
HP:0001324	HP:0010628	Facial palsy	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0001324	HP:0003327	Axial muscle weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0001324	HP:0010628	Facial palsy	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0001324	HP:0000467	Neck muscle weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		13
HP:0001324	HP:0003327	Axial muscle weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		13
HP:0001324	HP:0003473	Fatigable weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0001324	HP:0003690	Limb muscle weakness	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0001324	HP:0010628	Facial palsy	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		13
HP:0001324	HP:0002460	Distal muscle weakness	1	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy			3
HP:0001324	HP:0003690	Limb muscle weakness	1	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37
HP:0001324	HP:0003690	Limb muscle weakness	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0001324	HP:0003701	Proximal muscle weakness	1	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0001324	HP:0003690	Limb muscle weakness	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0001324	HP:0010628	Facial palsy	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0001324	HP:0003690	Limb muscle weakness	1	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1			134
HP:0001324	HP:0004878	Intercostal muscle weakness	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional		411
HP:0001324	HP:0010628	Facial palsy	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent		411
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient			411
HP:0001324	HP:0000467	Neck muscle weakness	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0001324	HP:0003690	Limb muscle weakness	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0001324	HP:0003701	Proximal muscle weakness	1	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0001324	HP:0000467	Neck muscle weakness	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0001324	HP:0002421	Poor head control	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0001324	HP:0002460	Distal muscle weakness	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0001324	HP:0003324	Generalized muscle weakness	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		92
HP:0001324	HP:0003327	Axial muscle weakness	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040283 - Occasional		92
HP:0001324	HP:0003701	Proximal muscle weakness	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		92
HP:0001324	HP:0010628	Facial palsy	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent		92
HP:0001324	HP:0003701	Proximal muscle weakness	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0001324	HP:0010547	Muscle flaccidity	1	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency	HP:0040281 - Very frequent		211
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		136
HP:0001324	HP:0003327	Axial muscle weakness	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0001324	HP:0003473	Fatigable weakness	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			136
HP:0001324	HP:0010628	Facial palsy	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		136
HP:0001324	HP:0003701	Proximal muscle weakness	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0001324	HP:0010628	Facial palsy	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0001324	HP:0003690	Limb muscle weakness	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001324	HP:0003323	Progressive muscle weakness	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001324	HP:0003324	Generalized muscle weakness	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare		286
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare		286
HP:0001324	HP:0003473	Fatigable weakness	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001324	HP:0003690	Limb muscle weakness	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001324	HP:0003701	Proximal muscle weakness	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001324	HP:0031374	Ankle weakness	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040283 - Occasional		286
HP:0001324	HP:0002460	Distal muscle weakness	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4			286
HP:0001324	HP:0003323	Progressive muscle weakness	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.		286
HP:0001324	HP:0003701	Proximal muscle weakness	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4			286
HP:0001324	HP:0002421	Poor head control	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0001324	HP:0002460	Distal muscle weakness	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		1
HP:0001324	HP:0003690	Limb muscle weakness	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0001324	HP:0003690	Limb muscle weakness	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0001324	HP:0003701	Proximal muscle weakness	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0001324	HP:0003690	Limb muscle weakness	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0001324	HP:0003701	Proximal muscle weakness	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	HP:0040283 - Occasional		7
HP:0001324	HP:0002460	Distal muscle weakness	1	LITAF CL E G H	9516	16841	OMIM:601098	Charcot-Marie-Tooth disease, demyelinating, type 1C	.		74
HP:0001324	HP:0003690	Limb muscle weakness	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001324	HP:0003701	Proximal muscle weakness	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001324	HP:0003690	Limb muscle weakness	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001324	HP:0003701	Proximal muscle weakness	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001324	HP:0002460	Distal muscle weakness	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0001324	HP:0003690	Limb muscle weakness	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0001324	HP:0003701	Proximal muscle weakness	1	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0001324	HP:0002460	Distal muscle weakness	1	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0001324	HP:0003690	Limb muscle weakness	1	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1			645
HP:0001324	HP:0003701	Proximal muscle weakness	1	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0001324	HP:0002421	Poor head control	1	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040281 - Very frequent		645
HP:0001324	HP:0003327	Axial muscle weakness	1	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040281 - Very frequent		645
HP:0001324	HP:0002460	Distal muscle weakness	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0001324	HP:0003690	Limb muscle weakness	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0001324	HP:0000467	Neck muscle weakness	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.		645
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0001324	HP:0001283	Bulbar palsy	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0001324	HP:0003324	Generalized muscle weakness	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0001324	HP:0010628	Facial palsy	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0001324	HP:0003327	Axial muscle weakness	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0001324	HP:0010628	Facial palsy	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0001324	HP:0000467	Neck muscle weakness	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		11
HP:0001324	HP:0003327	Axial muscle weakness	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		11
HP:0001324	HP:0003473	Fatigable weakness	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0001324	HP:0003690	Limb muscle weakness	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0001324	HP:0010628	Facial palsy	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		11
HP:0001324	HP:0000467	Neck muscle weakness	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0003473	Fatigable weakness	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0003690	Limb muscle weakness	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0003701	Proximal muscle weakness	1	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0000467	Neck muscle weakness	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0001324	HP:0003701	Proximal muscle weakness	1	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0001324	HP:0002460	Distal muscle weakness	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001324	HP:0003690	Limb muscle weakness	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001324	HP:0003701	Proximal muscle weakness	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001324	HP:0010628	Facial palsy	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0001324	HP:0000467	Neck muscle weakness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0001324	HP:0003473	Fatigable weakness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0001324	HP:0003690	Limb muscle weakness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0001324	HP:0003701	Proximal muscle weakness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0001324	HP:0010628	Facial palsy	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		124
HP:0001324	HP:0031374	Ankle weakness	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0001324	HP:0010628	Facial palsy	1	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040282 - Frequent		124
HP:0001324	HP:0010628	Facial palsy	1	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2	.		124
HP:0001324	HP:0010628	Facial palsy	1	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040283 - Occasional		125
HP:0001324	HP:0010628	Facial palsy	1	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040282 - Frequent		125
HP:0001324	HP:0010628	Facial palsy	1	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040283 - Occasional		125
HP:0001324	HP:0002460	Distal muscle weakness	1	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.		102
HP:0001324	HP:0003690	Limb muscle weakness	1	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P			102
HP:0001324	HP:0003323	Progressive muscle weakness	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0001324	HP:0003701	Proximal muscle weakness	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0001324	HP:0002421	Poor head control	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0001324	HP:0003690	Limb muscle weakness	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		178
HP:0001324	HP:0002421	Poor head control	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001324	HP:0003323	Progressive muscle weakness	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent		2
HP:0001324	HP:0003324	Generalized muscle weakness	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001324	HP:0003473	Fatigable weakness	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001324	HP:0003690	Limb muscle weakness	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001324	HP:0004878	Intercostal muscle weakness	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0002460	Distal muscle weakness	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.		2
HP:0001324	HP:0003701	Proximal muscle weakness	1	MAP3K20 CL E G H	51776	17797	OMIM:617760	Myopathy, centronuclear, 6, with fiber-type disproportion	.		2
HP:0001324	HP:0002460	Distal muscle weakness	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0001324	HP:0003690	Limb muscle weakness	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0001324	HP:0002460	Distal muscle weakness	1	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0001324	HP:0003690	Limb muscle weakness	1	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U
HP:0001324	HP:0003324	Generalized muscle weakness	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		80
HP:0001324	HP:0003473	Fatigable weakness	1	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis			80
HP:0001324	HP:0001283	Bulbar palsy	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0001324	HP:0002460	Distal muscle weakness	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0001324	HP:0003690	Limb muscle weakness	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0001324	HP:0001283	Bulbar palsy	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0001324	HP:0002460	Distal muscle weakness	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy			80
HP:0001324	HP:0031374	Ankle weakness	1	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0001324	HP:0002460	Distal muscle weakness	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0001324	HP:0003690	Limb muscle weakness	1	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development			3
HP:0001324	HP:0002421	Poor head control	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0001324	HP:0002460	Distal muscle weakness	1	MED25 CL E G H	81857	28845	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.		43
HP:0001324	HP:0002421	Poor head control	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0001324	HP:0009113	Diaphragmatic weakness	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0001324	HP:0010628	Facial palsy	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0001324	HP:0003324	Generalized muscle weakness	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		462
HP:0001324	HP:0002460	Distal muscle weakness	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0001324	HP:0003690	Limb muscle weakness	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0001324	HP:0003701	Proximal muscle weakness	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0001324	HP:0003690	Limb muscle weakness	1	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0001324	HP:0003701	Proximal muscle weakness	1	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.		203
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B			203
HP:0001324	HP:0002460	Distal muscle weakness	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0001324	HP:0003690	Limb muscle weakness	1	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0001324	HP:0002460	Distal muscle weakness	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0001324	HP:0003690	Limb muscle weakness	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0001324	HP:0003701	Proximal muscle weakness	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0001324	HP:0002421	Poor head control	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive			5
HP:0001324	HP:0010628	Facial palsy	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	.		11
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0001324	HP:0002421	Poor head control	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001324	HP:0003701	Proximal muscle weakness	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0001324	HP:0003701	Proximal muscle weakness	1	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent		14
HP:0001324	HP:0003323	Progressive muscle weakness	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0001324	HP:0003473	Fatigable weakness	1	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7			3
HP:0001324	HP:0002460	Distal muscle weakness	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0001324	HP:0003323	Progressive muscle weakness	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0001324	HP:0003690	Limb muscle weakness	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0001324	HP:0003701	Proximal muscle weakness	1	MLIP CL E G H	90523	21355	OMIM:620138
HP:0001324	HP:0003690	Limb muscle weakness	1	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T			18
HP:0001324	HP:0002460	Distal muscle weakness	1	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0001324	HP:0003690	Limb muscle weakness	1	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0001324	HP:0000467	Neck muscle weakness	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0001324	HP:0002460	Distal muscle weakness	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent		8
HP:0001324	HP:0003324	Generalized muscle weakness	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0001324	HP:0003690	Limb muscle weakness	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0001324	HP:0003701	Proximal muscle weakness	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0001324	HP:0009113	Diaphragmatic weakness	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0001324	HP:0002460	Distal muscle weakness	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0001324	HP:0003690	Limb muscle weakness	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0001324	HP:0003701	Proximal muscle weakness	1	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.		8
HP:0001324	HP:0003701	Proximal muscle weakness	1	MORC2 CL E G H	22880	23573	OMIM:619090	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN			8
HP:0001324	HP:0002460	Distal muscle weakness	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0001324	HP:0003690	Limb muscle weakness	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0001324	HP:0002460	Distal muscle weakness	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0001324	HP:0003323	Progressive muscle weakness	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0001324	HP:0002460	Distal muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.		134
HP:0001324	HP:0003690	Limb muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I			134
HP:0001324	HP:0002460	Distal muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.		134
HP:0001324	HP:0003690	Limb muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.		134
HP:0001324	HP:0002460	Distal muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.		134
HP:0001324	HP:0003690	Limb muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D			134
HP:0001324	HP:0002460	Distal muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0001324	HP:0003690	Limb muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0001324	HP:0002460	Distal muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0001324	HP:0003690	Limb muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0001324	HP:0003701	Proximal muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0001324	HP:0002421	Poor head control	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0001324	HP:0010628	Facial palsy	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0001324	HP:0003690	Limb muscle weakness	1	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome			134
HP:0001324	HP:0002460	Distal muscle weakness	1	MPZ CL E G H	4359	7225	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		134
HP:0001324	HP:0003690	Limb muscle weakness	1	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0001324	HP:0002421	Poor head control	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001324	HP:0003701	Proximal muscle weakness	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0001324	HP:0003690	Limb muscle weakness	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	HP:0003584 - Late onset	85
HP:0001324	HP:0003701	Proximal muscle weakness	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0001324	HP:0003690	Limb muscle weakness	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0001324	HP:0000467	Neck muscle weakness	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0001324	HP:0003324	Generalized muscle weakness	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0001324	HP:0010628	Facial palsy	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0001324	HP:0003473	Fatigable weakness	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001324	HP:0003690	Limb muscle weakness	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001324	HP:0003701	Proximal muscle weakness	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001324	HP:0002460	Distal muscle weakness	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0001324	HP:0003690	Limb muscle weakness	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0001324	HP:0003701	Proximal muscle weakness	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.		7
HP:0001324	HP:0010628	Facial palsy	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0001324	HP:0002460	Distal muscle weakness	1	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.		88
HP:0001324	HP:0003701	Proximal muscle weakness	1	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.		88
HP:0001324	HP:0010628	Facial palsy	1	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1	.		88
HP:0001324	HP:0002460	Distal muscle weakness	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0001324	HP:0003690	Limb muscle weakness	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0001324	HP:0001283	Bulbar palsy	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0001324	HP:0003690	Limb muscle weakness	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0001324	HP:0010628	Facial palsy	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0001324	HP:0010628	Facial palsy	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0001324	HP:0003690	Limb muscle weakness	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0001324	HP:0002460	Distal muscle weakness	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001324	HP:0003690	Limb muscle weakness	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001324	HP:0000467	Neck muscle weakness	1	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.		72
HP:0001324	HP:0003701	Proximal muscle weakness	1	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency			72
HP:0001324	HP:0010628	Facial palsy	1	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.		72
HP:0001324	HP:0000467	Neck muscle weakness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0001324	HP:0003473	Fatigable weakness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0001324	HP:0003690	Limb muscle weakness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0001324	HP:0003701	Proximal muscle weakness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0001324	HP:0010628	Facial palsy	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		72
HP:0001324	HP:0031374	Ankle weakness	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0001324	HP:0002460	Distal muscle weakness	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0001324	HP:0003327	Axial muscle weakness	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYBPC1 CL E G H	4604	7549	OMIM:618524	MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM			66
HP:0001324	HP:0003690	Limb muscle weakness	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001324	HP:0002460	Distal muscle weakness	1	MYH14 CL E G H	79784	23212	OMIM:614369	Peripheral neuropathy, myopathy, hoarseness, and hearing loss	.		227
HP:0001324	HP:0002460	Distal muscle weakness	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0001324	HP:0003690	Limb muscle weakness	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome			227
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040283 - Occasional		227
HP:0001324	HP:0000467	Neck muscle weakness	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.		105
HP:0001324	HP:0002460	Distal muscle weakness	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	HP:0040283 - Occasional		105
HP:0001324	HP:0003324	Generalized muscle weakness	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.		105
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.		105
HP:0001324	HP:0002421	Poor head control	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0001324	HP:0003327	Axial muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001324	HP:0000467	Neck muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent		1269
HP:0001324	HP:0002460	Distal muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent		1269
HP:0001324	HP:0003323	Progressive muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent		1269
HP:0001324	HP:0003690	Limb muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy			1269
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy			1269
HP:0001324	HP:0012507	Weakness of orbicularis oculi muscle	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent		1269
HP:0001324	HP:0002460	Distal muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001324	HP:0003690	Limb muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001324	HP:0010628	Facial palsy	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0001324	HP:0001283	Bulbar palsy	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0001324	HP:0003324	Generalized muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001324	HP:0010628	Facial palsy	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0001324	HP:0000467	Neck muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.		1269
HP:0001324	HP:0002460	Distal muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.		1269
HP:0001324	HP:0003690	Limb muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	HP:0040283 - Occasional		1269
HP:0001324	HP:0010628	Facial palsy	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	.		1269
HP:0001324	HP:0000467	Neck muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage			1269
HP:0001324	HP:0003324	Generalized muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.		1269
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage			1269
HP:0001324	HP:0003704	Scapuloperoneal weakness	1	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage	.		1269
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001324	HP:0003704	Scapuloperoneal weakness	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.		1269
HP:0001324	HP:0000467	Neck muscle weakness	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0001324	HP:0003324	Generalized muscle weakness	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0001324	HP:0003327	Axial muscle weakness	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001324	HP:0002421	Poor head control	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0001324	HP:0003323	Progressive muscle weakness	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent		131
HP:0001324	HP:0003324	Generalized muscle weakness	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001324	HP:0003473	Fatigable weakness	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001324	HP:0003690	Limb muscle weakness	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0001324	HP:0004878	Intercostal muscle weakness	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001324	HP:0003324	Generalized muscle weakness	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001324	HP:0010628	Facial palsy	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001324	HP:0002460	Distal muscle weakness	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001324	HP:0010628	Facial palsy	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0001324	HP:0010628	Facial palsy	1	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent		5
HP:0001324	HP:0003327	Axial muscle weakness	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0001324	HP:0010628	Facial palsy	1	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040281 - Very frequent
HP:0001324	HP:0000467	Neck muscle weakness	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0001324	HP:0001283	Bulbar palsy	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0001324	HP:0002421	Poor head control	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0001324	HP:0002460	Distal muscle weakness	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001324	HP:0003324	Generalized muscle weakness	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0001324	HP:0003473	Fatigable weakness	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0001324	HP:0003690	Limb muscle weakness	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001324	HP:0010628	Facial palsy	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001324	HP:0002460	Distal muscle weakness	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent		75
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A			75
HP:0001324	HP:0003690	Limb muscle weakness	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A			75
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040281 - Very frequent		75
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A			75
HP:0001324	HP:0002460	Distal muscle weakness	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0001324	HP:0003323	Progressive muscle weakness	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0001324	HP:0000467	Neck muscle weakness	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body			75
HP:0001324	HP:0002460	Distal muscle weakness	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.		75
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.		75
HP:0001324	HP:0002460	Distal muscle weakness	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.		75
HP:0001324	HP:0002421	Poor head control	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		217
HP:0001324	HP:0003473	Fatigable weakness	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0001324	HP:0003690	Limb muscle weakness	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0001324	HP:0010628	Facial palsy	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		217
HP:0001324	HP:0000467	Neck muscle weakness	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0001324	HP:0003473	Fatigable weakness	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001324	HP:0003690	Limb muscle weakness	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		217
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001324	HP:0010628	Facial palsy	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001324	HP:0003701	Proximal muscle weakness	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive			217
HP:0001324	HP:0010628	Facial palsy	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.		217
HP:0001324	HP:0002421	Poor head control	1	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	.		1
HP:0001324	HP:0002460	Distal muscle weakness	1	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.		47
HP:0001324	HP:0003701	Proximal muscle weakness	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0001324	HP:0010628	Facial palsy	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0001324	HP:0002421	Poor head control	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0002421	Poor head control	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0002421	Poor head control	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0002421	Poor head control	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY			96
HP:0001324	HP:0002460	Distal muscle weakness	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040282 - Frequent		82
HP:0001324	HP:0003690	Limb muscle weakness	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0001324	HP:0003701	Proximal muscle weakness	1	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040283 - Occasional		82
HP:0001324	HP:0002460	Distal muscle weakness	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.		82
HP:0001324	HP:0002421	Poor head control	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0001324	HP:0002421	Poor head control	1	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.		91
HP:0001324	HP:0002421	Poor head control	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0001324	HP:0002421	Poor head control	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.		3
HP:0001324	HP:0002421	Poor head control	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0001324	HP:0002421	Poor head control	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001324	HP:0002421	Poor head control	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0001324	HP:0002421	Poor head control	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0001324	HP:0002421	Poor head control	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0001324	HP:0002421	Poor head control	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0001324	HP:0002421	Poor head control	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0001324	HP:0002421	Poor head control	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0002421	Poor head control	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001324	HP:0002421	Poor head control	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0001324	HP:0002421	Poor head control	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0001324	HP:0002421	Poor head control	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0001324	HP:0002421	Poor head control	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0001324	HP:0002421	Poor head control	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0001324	HP:0002421	Poor head control	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0001324	HP:0002421	Poor head control	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0001324	HP:0002421	Poor head control	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0001324	HP:0002421	Poor head control	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0001324	HP:0002421	Poor head control	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0001324	HP:0002421	Poor head control	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0001324	HP:0002421	Poor head control	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0001324	HP:0002421	Poor head control	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0001324	HP:0000467	Neck muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0001324	HP:0003473	Fatigable weakness	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001324	HP:0003690	Limb muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001324	HP:0010628	Facial palsy	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001324	HP:0000467	Neck muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001324	HP:0002460	Distal muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001324	HP:0003323	Progressive muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001324	HP:0003690	Limb muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001324	HP:0003701	Proximal muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001324	HP:0003324	Generalized muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent		745
HP:0001324	HP:0010628	Facial palsy	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0000467	Neck muscle weakness	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001324	HP:0001283	Bulbar palsy	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001324	HP:0002460	Distal muscle weakness	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001324	HP:0003324	Generalized muscle weakness	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001324	HP:0003690	Limb muscle weakness	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001324	HP:0003701	Proximal muscle weakness	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001324	HP:0003327	Axial muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0010628	Facial palsy	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0000467	Neck muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0003327	Axial muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0003473	Fatigable weakness	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0001324	HP:0003690	Limb muscle weakness	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0001324	HP:0010628	Facial palsy	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0002421	Poor head control	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001324	HP:0003324	Generalized muscle weakness	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		24
HP:0001324	HP:0003473	Fatigable weakness	1	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis			24
HP:0001324	HP:0003690	Limb muscle weakness	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC			24
HP:0001324	HP:0003701	Proximal muscle weakness	1	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC	HP:0040283 - Occasional		24
HP:0001324	HP:0002460	Distal muscle weakness	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent		118
HP:0001324	HP:0003690	Limb muscle weakness	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E			118
HP:0001324	HP:0003701	Proximal muscle weakness	1	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040282 - Frequent		118
HP:0001324	HP:0002460	Distal muscle weakness	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040281 - Very frequent		118
HP:0001324	HP:0003690	Limb muscle weakness	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0001324	HP:0003701	Proximal muscle weakness	1	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0001324	HP:0002460	Distal muscle weakness	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.		118
HP:0001324	HP:0003690	Limb muscle weakness	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0001324	HP:0010628	Facial palsy	1	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	HP:0040283 - Occasional		118
HP:0001324	HP:0002460	Distal muscle weakness	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.		118
HP:0001324	HP:0002460	Distal muscle weakness	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	.		118
HP:0001324	HP:0003701	Proximal muscle weakness	1	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	HP:0040284 - Very rare		118
HP:0001324	HP:0003324	Generalized muscle weakness	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		101
HP:0001324	HP:0003473	Fatigable weakness	1	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis			101
HP:0001324	HP:0002421	Poor head control	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent
HP:0001324	HP:0003690	Limb muscle weakness	1	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal			1952
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		1952
HP:0001324	HP:0003690	Limb muscle weakness	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0001324	HP:0010628	Facial palsy	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0001324	HP:0003690	Limb muscle weakness	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0001324	HP:0010628	Facial palsy	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0001324	HP:0002421	Poor head control	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0001324	HP:0003473	Fatigable weakness	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0001324	HP:0003690	Limb muscle weakness	1	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant			117
HP:0001324	HP:0010628	Facial palsy	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0001324	HP:0002421	Poor head control	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0001324	HP:0002460	Distal muscle weakness	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0003323	Progressive muscle weakness	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0003473	Fatigable weakness	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0003690	Limb muscle weakness	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0003701	Proximal muscle weakness	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0000467	Neck muscle weakness	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0001324	HP:0003690	Limb muscle weakness	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0001324	HP:0003473	Fatigable weakness	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001324	HP:0002460	Distal muscle weakness	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0001324	HP:0002421	Poor head control	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0001324	HP:0002421	Poor head control	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0001324	HP:0003690	Limb muscle weakness	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0001324	HP:0002421	Poor head control	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001324	HP:0002460	Distal muscle weakness	1	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0001324	HP:0003701	Proximal muscle weakness	1	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0001324	HP:0003701	Proximal muscle weakness	1	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency	.		94
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent		214
HP:0001324	HP:0003701	Proximal muscle weakness	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0001324	HP:0003324	Generalized muscle weakness	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		62
HP:0001324	HP:0003473	Fatigable weakness	1	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0001324	HP:0003701	Proximal muscle weakness	1	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.		19
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9			19
HP:0001324	HP:0000467	Neck muscle weakness	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.		19
HP:0001324	HP:0003324	Generalized muscle weakness	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.		19
HP:0001324	HP:0003690	Limb muscle weakness	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2			19
HP:0001324	HP:0003701	Proximal muscle weakness	1	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.		19
HP:0001324	HP:0003473	Fatigable weakness	1	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		19
HP:0001324	HP:0002421	Poor head control	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0001324	HP:0010628	Facial palsy	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0001324	HP:0000467	Neck muscle weakness	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.		10
HP:0001324	HP:0002460	Distal muscle weakness	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.		10
HP:0001324	HP:0003690	Limb muscle weakness	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.		10
HP:0001324	HP:0003701	Proximal muscle weakness	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.		10
HP:0001324	HP:0010628	Facial palsy	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.		10
HP:0001324	HP:0002421	Poor head control	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent		231
HP:0001324	HP:0002421	Poor head control	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001324	HP:0002421	Poor head control	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.		6
HP:0001324	HP:0003323	Progressive muscle weakness	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.		1
HP:0001324	HP:0003701	Proximal muscle weakness	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001324	HP:0003701	Proximal muscle weakness	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001324	HP:0003690	Limb muscle weakness	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0001324	HP:0010628	Facial palsy	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0001324	HP:0003690	Limb muscle weakness	1	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6			4
HP:0001324	HP:0001283	Bulbar palsy	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001324	HP:0002421	Poor head control	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001324	HP:0010547	Muscle flaccidity	1	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		169
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0001324	HP:0010628	Facial palsy	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		169
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0001324	HP:0010628	Facial palsy	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		75
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0001324	HP:0010628	Facial palsy	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		4
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0001324	HP:0010628	Facial palsy	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		65
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0001324	HP:0010628	Facial palsy	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		66
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B	.		66
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0001324	HP:0010628	Facial palsy	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		46
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0001324	HP:0010628	Facial palsy	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		59
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0001324	HP:0010628	Facial palsy	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		62
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0001324	HP:0010628	Facial palsy	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		82
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0001324	HP:0010628	Facial palsy	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		106
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0001324	HP:0010628	Facial palsy	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		47
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0001324	HP:0010628	Facial palsy	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		99
HP:0001324	HP:0010547	Muscle flaccidity	1	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040283 - Occasional		98
HP:0001324	HP:0003323	Progressive muscle weakness	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0001324	HP:0010628	Facial palsy	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		98
HP:0001324	HP:0003690	Limb muscle weakness	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0001324	HP:0003324	Generalized muscle weakness	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		6
HP:0001324	HP:0003473	Fatigable weakness	1	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis			6
HP:0001324	HP:0002421	Poor head control	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0001324	HP:0002460	Distal muscle weakness	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0001324	HP:0003690	Limb muscle weakness	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0001324	HP:0003701	Proximal muscle weakness	1	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0001324	HP:0003323	Progressive muscle weakness	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0001324	HP:0003323	Progressive muscle weakness	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001324	HP:0003323	Progressive muscle weakness	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0001324	HP:0003690	Limb muscle weakness	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0001324	HP:0010628	Facial palsy	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria			11
HP:0001324	HP:0003690	Limb muscle weakness	1	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0001324	HP:0002421	Poor head control	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.		77
HP:0001324	HP:0003690	Limb muscle weakness	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0001324	HP:0002421	Poor head control	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001324	HP:0003324	Generalized muscle weakness	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0001324	HP:0003690	Limb muscle weakness	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001324	HP:0003701	Proximal muscle weakness	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001324	HP:0002421	Poor head control	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		2
HP:0001324	HP:0002421	Poor head control	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0001324	HP:0002421	Poor head control	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		3
HP:0001324	HP:0002421	Poor head control	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0001324	HP:0003690	Limb muscle weakness	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0001324	HP:0010628	Facial palsy	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0001324	HP:0003324	Generalized muscle weakness	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0001324	HP:0001283	Bulbar palsy	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.		3
HP:0001324	HP:0001283	Bulbar palsy	1	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent		3
HP:0001324	HP:0010628	Facial palsy	1	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional		759
HP:0001324	HP:0003473	Fatigable weakness	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040283 - Occasional		759
HP:0001324	HP:0010547	Muscle flaccidity	1	PLEC CL E G H	5339	9069	ORPHA:257	Epidermolysis bullosa simplex with muscular dystrophy	HP:0040281 - Very frequent		759
HP:0001324	HP:0003324	Generalized muscle weakness	1	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.		759
HP:0001324	HP:0003701	Proximal muscle weakness	1	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.		759
HP:0001324	HP:0002460	Distal muscle weakness	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0001324	HP:0003323	Progressive muscle weakness	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0001324	HP:0003324	Generalized muscle weakness	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional		759
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent		759
HP:0001324	HP:0003690	Limb muscle weakness	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0001324	HP:0003701	Proximal muscle weakness	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0001324	HP:0010628	Facial palsy	1	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0001324	HP:0002460	Distal muscle weakness	1	PLEKHG5 CL E G H	57449	29105	OMIM:615376	Charcot-Marie-Tooth disease, recessive intermediate C	.		186
HP:0001324	HP:0002460	Distal muscle weakness	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.		186
HP:0001324	HP:0003701	Proximal muscle weakness	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.		186
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4			186
HP:0001324	HP:0003324	Generalized muscle weakness	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0001324	HP:0003690	Limb muscle weakness	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0001324	HP:0002421	Poor head control	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040282 - Frequent		60
HP:0001324	HP:0002421	Poor head control	1	PLP1 CL E G H	5354	9086	ORPHA:280210	Pelizaeus-Merzbacher disease, connatal form	HP:0040282 - Frequent		60
HP:0001324	HP:0003690	Limb muscle weakness	1	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked			60
HP:0001324	HP:0010628	Facial palsy	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0001324	HP:0002460	Distal muscle weakness	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0001324	HP:0003690	Limb muscle weakness	1	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0001324	HP:0002460	Distal muscle weakness	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0001324	HP:0003690	Limb muscle weakness	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0001324	HP:0002460	Distal muscle weakness	1	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.		79
HP:0001324	HP:0003690	Limb muscle weakness	1	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.		79
HP:0001324	HP:0002460	Distal muscle weakness	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040282 - Frequent		79
HP:0001324	HP:0009113	Diaphragmatic weakness	1	PMP22 CL E G H	5376	9118	ORPHA:101081	Charcot-Marie-Tooth disease type 1A	HP:0040283 - Occasional		79
HP:0001324	HP:0002460	Distal muscle weakness	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0001324	HP:0003690	Limb muscle weakness	1	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0001324	HP:0002460	Distal muscle weakness	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0001324	HP:0003690	Limb muscle weakness	1	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0001324	HP:0002460	Distal muscle weakness	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0001324	HP:0003690	Limb muscle weakness	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0001324	HP:0003701	Proximal muscle weakness	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0001324	HP:0003690	Limb muscle weakness	1	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome			79
HP:0001324	HP:0002460	Distal muscle weakness	1	PMP22 CL E G H	5376	9118	OMIM:180800	Roussy-Levy hereditary areflexic dystasia	.		79
HP:0001324	HP:0002421	Poor head control	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	.
HP:0001324	HP:0003324	Generalized muscle weakness	1	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional		66
HP:0001324	HP:0002460	Distal muscle weakness	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0001324	HP:0003690	Limb muscle weakness	1	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0001324	HP:0002460	Distal muscle weakness	1	PNKP CL E G H	11284	9154	OMIM:605589	Charcot-Marie-Tooth disease, axonal, type 2B2	.		244
HP:0001324	HP:0002421	Poor head control	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		244
HP:0001324	HP:0000467	Neck muscle weakness	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional		65
HP:0001324	HP:0003701	Proximal muscle weakness	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0001324	HP:0000467	Neck muscle weakness	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0001324	HP:0002460	Distal muscle weakness	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001324	HP:0003323	Progressive muscle weakness	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001324	HP:0003690	Limb muscle weakness	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001324	HP:0003701	Proximal muscle weakness	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001324	HP:0002460	Distal muscle weakness	1	PNPLA6 CL E G H	10908	16268	OMIM:275400	Oliver-Mcfarlane syndrome	.		103
HP:0001324	HP:0002460	Distal muscle weakness	1	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive			103
HP:0001324	HP:0003690	Limb muscle weakness	1	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive			103
HP:0001324	HP:0003701	Proximal muscle weakness	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0001324	HP:0002421	Poor head control	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent		60
HP:0001324	HP:0002421	Poor head control	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0001324	HP:0003690	Limb muscle weakness	1	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z			6
HP:0001324	HP:0003701	Proximal muscle weakness	1	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z			6
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001324	HP:0003690	Limb muscle weakness	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0001324	HP:0003701	Proximal muscle weakness	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001324	HP:0010628	Facial palsy	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0001324	HP:0003701	Proximal muscle weakness	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0001324	HP:0010628	Facial palsy	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0001324	HP:0002460	Distal muscle weakness	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		464
HP:0001324	HP:0003324	Generalized muscle weakness	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.		464
HP:0001324	HP:0002460	Distal muscle weakness	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		464
HP:0001324	HP:0003690	Limb muscle weakness	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0001324	HP:0000467	Neck muscle weakness	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0001324	HP:0003323	Progressive muscle weakness	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0001324	HP:0003690	Limb muscle weakness	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0001324	HP:0010628	Facial palsy	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.		464
HP:0001324	HP:0002460	Distal muscle weakness	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0001324	HP:0003701	Proximal muscle weakness	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0001324	HP:0010628	Facial palsy	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0001324	HP:0002460	Distal muscle weakness	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001324	HP:0003324	Generalized muscle weakness	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001324	HP:0003701	Proximal muscle weakness	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0001324	HP:0003701	Proximal muscle weakness	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001324	HP:0003690	Limb muscle weakness	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		45
HP:0001324	HP:0003701	Proximal muscle weakness	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001324	HP:0010628	Facial palsy	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		45
HP:0001324	HP:0003323	Progressive muscle weakness	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0001324	HP:0003690	Limb muscle weakness	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0001324	HP:0010628	Facial palsy	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.		45
HP:0001324	HP:0003701	Proximal muscle weakness	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0001324	HP:0003701	Proximal muscle weakness	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0001324	HP:0003701	Proximal muscle weakness	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		180
HP:0001324	HP:0003324	Generalized muscle weakness	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0001324	HP:0003701	Proximal muscle weakness	1	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.		180
HP:0001324	HP:0003701	Proximal muscle weakness	1	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	.		33
HP:0001324	HP:0003701	Proximal muscle weakness	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		18
HP:0001324	HP:0002421	Poor head control	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0001324	HP:0003701	Proximal muscle weakness	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12			18
HP:0001324	HP:0003701	Proximal muscle weakness	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		213
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		213
HP:0001324	HP:0003327	Axial muscle weakness	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0001324	HP:0003473	Fatigable weakness	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			213
HP:0001324	HP:0010628	Facial palsy	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		213
HP:0001324	HP:0003324	Generalized muscle weakness	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		213
HP:0001324	HP:0010628	Facial palsy	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability			213
HP:0001324	HP:0010628	Facial palsy	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.		213
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	.		213
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0001324	HP:0003690	Limb muscle weakness	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0001324	HP:0003701	Proximal muscle weakness	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent		213
HP:0001324	HP:0003701	Proximal muscle weakness	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		221
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		221
HP:0001324	HP:0003327	Axial muscle weakness	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0001324	HP:0003473	Fatigable weakness	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability			221
HP:0001324	HP:0010628	Facial palsy	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional		221
HP:0001324	HP:0003324	Generalized muscle weakness	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0001324	HP:0003701	Proximal muscle weakness	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0001324	HP:0010628	Facial palsy	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.		221
HP:0001324	HP:0003701	Proximal muscle weakness	1	POMT2 CL E G H	29954	19743	OMIM:613158	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	.		221
HP:0001324	HP:0003473	Fatigable weakness	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14			221
HP:0001324	HP:0003324	Generalized muscle weakness	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		4
HP:0001324	HP:0003473	Fatigable weakness	1	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis			4
HP:0001324	HP:0003324	Generalized muscle weakness	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		2
HP:0001324	HP:0003473	Fatigable weakness	1	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis			2
HP:0001324	HP:0003324	Generalized muscle weakness	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		1
HP:0001324	HP:0003473	Fatigable weakness	1	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0001324	HP:0003690	Limb muscle weakness	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0001324	HP:0003701	Proximal muscle weakness	1	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0001324	HP:0003690	Limb muscle weakness	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0001324	HP:0003324	Generalized muscle weakness	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		1
HP:0001324	HP:0003473	Fatigable weakness	1	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0001324	HP:0003690	Limb muscle weakness	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0001324	HP:0003701	Proximal muscle weakness	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0001324	HP:0002460	Distal muscle weakness	1	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		2
HP:0001324	HP:0002421	Poor head control	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0003701	Proximal muscle weakness	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0001324	HP:0003701	Proximal muscle weakness	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001324	HP:0003701	Proximal muscle weakness	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001324	HP:0003690	Limb muscle weakness	1	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease			69
HP:0001324	HP:0003690	Limb muscle weakness	1	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome			69
HP:0001324	HP:0003690	Limb muscle weakness	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001324	HP:0003324	Generalized muscle weakness	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		25
HP:0001324	HP:0003473	Fatigable weakness	1	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis			25
HP:0001324	HP:0003323	Progressive muscle weakness	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0001324	HP:0002460	Distal muscle weakness	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5	.		49
HP:0001324	HP:0000467	Neck muscle weakness	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0001324	HP:0002460	Distal muscle weakness	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0001324	HP:0003324	Generalized muscle weakness	1	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional		94
HP:0001324	HP:0002460	Distal muscle weakness	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F			170
HP:0001324	HP:0003690	Limb muscle weakness	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.		170
HP:0001324	HP:0002460	Distal muscle weakness	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0001324	HP:0003690	Limb muscle weakness	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0001324	HP:0003701	Proximal muscle weakness	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0001324	HP:0000467	Neck muscle weakness	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare		81
HP:0001324	HP:0002421	Poor head control	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0001324	HP:0010628	Facial palsy	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040282 - Frequent		6
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	PTEN CL E G H	5728	9588	ORPHA:109	Bannayan-Riley-Ruvalcaba syndrome	HP:0040283 - Occasional		948
HP:0001324	HP:0002460	Distal muscle weakness	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent		6
HP:0001324	HP:0010628	Facial palsy	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent		6
HP:0001324	HP:0002460	Distal muscle weakness	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0001324	HP:0002421	Poor head control	1	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0001324	HP:0010628	Facial palsy	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0001324	HP:0003323	Progressive muscle weakness	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.		57
HP:0001324	HP:0003323	Progressive muscle weakness	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0001324	HP:0003701	Proximal muscle weakness	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0001324	HP:0000467	Neck muscle weakness	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0001324	HP:0003690	Limb muscle weakness	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0001324	HP:0003701	Proximal muscle weakness	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0001324	HP:0002460	Distal muscle weakness	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0001324	HP:0003690	Limb muscle weakness	1	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0001324	HP:0002460	Distal muscle weakness	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040282 - Frequent		150
HP:0001324	HP:0003690	Limb muscle weakness	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001324	HP:0002421	Poor head control	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0001324	HP:0003324	Generalized muscle weakness	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040282 - Frequent		57
HP:0001324	HP:0003324	Generalized muscle weakness	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001324	HP:0003701	Proximal muscle weakness	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001324	HP:0000467	Neck muscle weakness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0001324	HP:0003473	Fatigable weakness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0001324	HP:0003690	Limb muscle weakness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0001324	HP:0003701	Proximal muscle weakness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0001324	HP:0010628	Facial palsy	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		73
HP:0001324	HP:0031374	Ankle weakness	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0001324	HP:0002421	Poor head control	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0001324	HP:0002421	Poor head control	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0001324	HP:0003690	Limb muscle weakness	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome			88
HP:0001324	HP:0003701	Proximal muscle weakness	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.		10
HP:0001324	HP:0002460	Distal muscle weakness	1	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0001324	HP:0003690	Limb muscle weakness	1	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0001324	HP:0009113	Diaphragmatic weakness	1	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0001324	HP:0003690	Limb muscle weakness	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31			87
HP:0001324	HP:0003701	Proximal muscle weakness	1	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31			87
HP:0001324	HP:0002460	Distal muscle weakness	1	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5			87
HP:0001324	HP:0003690	Limb muscle weakness	1	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5			87
HP:0001324	HP:0002460	Distal muscle weakness	1	REEP1 CL E G H	65055	25786	OMIM:614751	Neuronopathy, distal hereditary motor, type VB	.		87
HP:0001324	HP:0003690	Limb muscle weakness	1	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant			87
HP:0001324	HP:0002460	Distal muscle weakness	1	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040283 - Occasional		1
HP:0001324	HP:0010628	Facial palsy	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent		3
HP:0001324	HP:0002460	Distal muscle weakness	1	RFC1 CL E G H	5981	9969	ORPHA:504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	HP:0040282 - Frequent
HP:0001324	HP:0002460	Distal muscle weakness	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0001324	HP:0000467	Neck muscle weakness	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0001324	HP:0003473	Fatigable weakness	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0001324	HP:0003690	Limb muscle weakness	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040281 - Very frequent		3
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0001324	HP:0003690	Limb muscle weakness	1	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0001324	HP:0000467	Neck muscle weakness	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0001324	HP:0003473	Fatigable weakness	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0001324	HP:0003690	Limb muscle weakness	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040281 - Very frequent		125
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001324	HP:0003690	Limb muscle weakness	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		125
HP:0001324	HP:0003701	Proximal muscle weakness	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001324	HP:0010628	Facial palsy	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		125
HP:0001324	HP:0002460	Distal muscle weakness	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		125
HP:0001324	HP:0003690	Limb muscle weakness	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0001324	HP:0003690	Limb muscle weakness	1	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12			25
HP:0001324	HP:0003690	Limb muscle weakness	1	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant			25
HP:0001324	HP:0003701	Proximal muscle weakness	1	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61
HP:0001324	HP:0003690	Limb muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001324	HP:0003701	Proximal muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001324	HP:0003323	Progressive muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001324	HP:0003701	Proximal muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0001324	HP:0010628	Facial palsy	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001324	HP:0003324	Generalized muscle weakness	1	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease	.		1200
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0001324	HP:0003327	Axial muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0001324	HP:0003701	Proximal muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0001324	HP:0010628	Facial palsy	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0001324	HP:0003473	Fatigable weakness	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040281 - Very frequent		1200
HP:0001324	HP:0003701	Proximal muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent		1200
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset			1200
HP:0001324	HP:0003701	Proximal muscle weakness	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001324	HP:0003324	Generalized muscle weakness	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0001324	HP:0003327	Axial muscle weakness	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0001324	HP:0003701	Proximal muscle weakness	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0001324	HP:0010628	Facial palsy	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0001324	HP:0002460	Distal muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement			1200
HP:0001324	HP:0003324	Generalized muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent		1200
HP:0001324	HP:0003327	Axial muscle weakness	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent		1200
HP:0001324	HP:0010628	Facial palsy	1	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent		1200
HP:0001324	HP:0001283	Bulbar palsy	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0001324	HP:0003324	Generalized muscle weakness	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0001324	HP:0003701	Proximal muscle weakness	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001324	HP:0010628	Facial palsy	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0001324	HP:0003690	Limb muscle weakness	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0001324	HP:0002460	Distal muscle weakness	1	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.		309
HP:0001324	HP:0010628	Facial palsy	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0001324	HP:0002460	Distal muscle weakness	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0001324	HP:0003690	Limb muscle weakness	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0001324	HP:0002460	Distal muscle weakness	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0001324	HP:0003690	Limb muscle weakness	1	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3	.		16
HP:0001324	HP:0002460	Distal muscle weakness	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0003690	Limb muscle weakness	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0003701	Proximal muscle weakness	1	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0002460	Distal muscle weakness	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0001324	HP:0003690	Limb muscle weakness	1	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2			180
HP:0001324	HP:0002460	Distal muscle weakness	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0001324	HP:0002421	Poor head control	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		126
HP:0001324	HP:0002421	Poor head control	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		427
HP:0001324	HP:0002421	Poor head control	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0001324	HP:0010547	Muscle flaccidity	1	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis			263
HP:0001324	HP:0010547	Muscle flaccidity	1	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis			263
HP:0001324	HP:0003473	Fatigable weakness	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0001324	HP:0003701	Proximal muscle weakness	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0001324	HP:0010547	Muscle flaccidity	1	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis			263
HP:0001324	HP:0010547	Muscle flaccidity	1	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1			263
HP:0001324	HP:0010547	Muscle flaccidity	1	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2			263
HP:0001324	HP:0003473	Fatigable weakness	1	SCN4A CL E G H	6329	10591	OMIM:614198	Myasthenic syndrome, congenital, 16	.		263
HP:0001324	HP:0003701	Proximal muscle weakness	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040284 - Very rare		263
HP:0001324	HP:0031372	Cold paresis	1	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg	HP:0040282 - Frequent		263
HP:0001324	HP:0000467	Neck muscle weakness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0001324	HP:0003473	Fatigable weakness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0001324	HP:0003690	Limb muscle weakness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0001324	HP:0003701	Proximal muscle weakness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0001324	HP:0010628	Facial palsy	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		263
HP:0001324	HP:0031374	Ankle weakness	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0001324	HP:0002421	Poor head control	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0001324	HP:0003690	Limb muscle weakness	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0001324	HP:0010628	Facial palsy	1	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect			40
HP:0001324	HP:0002460	Distal muscle weakness	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0001324	HP:0003690	Limb muscle weakness	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0001324	HP:0003690	Limb muscle weakness	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001324	HP:0002421	Poor head control	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0001324	HP:0003324	Generalized muscle weakness	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0001324	HP:0003701	Proximal muscle weakness	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0001324	HP:0003690	Limb muscle weakness	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0001324	HP:0002421	Poor head control	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0001324	HP:0003324	Generalized muscle weakness	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0001324	HP:0003701	Proximal muscle weakness	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0001324	HP:0002421	Poor head control	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0001324	HP:0003324	Generalized muscle weakness	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0001324	HP:0003701	Proximal muscle weakness	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0001324	HP:0002421	Poor head control	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4			237
HP:0001324	HP:0002421	Poor head control	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0001324	HP:0003324	Generalized muscle weakness	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0001324	HP:0003701	Proximal muscle weakness	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0001324	HP:0002460	Distal muscle weakness	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001324	HP:0003690	Limb muscle weakness	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001324	HP:0003701	Proximal muscle weakness	1	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001324	HP:0002421	Poor head control	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0001324	HP:0003327	Axial muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001324	HP:0002421	Poor head control	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0001324	HP:0003323	Progressive muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent		144
HP:0001324	HP:0003324	Generalized muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001324	HP:0003473	Fatigable weakness	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001324	HP:0003690	Limb muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0001324	HP:0004878	Intercostal muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001324	HP:0001283	Bulbar palsy	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0001324	HP:0003324	Generalized muscle weakness	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0001324	HP:0003701	Proximal muscle weakness	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001324	HP:0010628	Facial palsy	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0001324	HP:0000467	Neck muscle weakness	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0001324	HP:0002421	Poor head control	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0001324	HP:0003324	Generalized muscle weakness	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0001324	HP:0003327	Axial muscle weakness	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0001324	HP:0010628	Facial palsy	1	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1	.		144
HP:0001324	HP:0000467	Neck muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040281 - Very frequent		144
HP:0001324	HP:0002421	Poor head control	1	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040282 - Frequent		144
HP:0001324	HP:0003701	Proximal muscle weakness	1	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome			144
HP:0001324	HP:0010628	Facial palsy	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0001324	HP:0002460	Distal muscle weakness	1	SETX CL E G H	23064	445	OMIM:602433	Amyotrophic lateral sclerosis 4, juvenile	.		162
HP:0001324	HP:0002460	Distal muscle weakness	1	SETX CL E G H	23064	445	ORPHA:357043	Amyotrophic lateral sclerosis type 4	HP:0040282 - Frequent		162
HP:0001324	HP:0002460	Distal muscle weakness	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0001324	HP:0003701	Proximal muscle weakness	1	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent		132
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	.		132
HP:0001324	HP:0003701	Proximal muscle weakness	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0001324	HP:0003701	Proximal muscle weakness	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	.		113
HP:0001324	HP:0010628	Facial palsy	1	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	HP:0040282 - Frequent		223
HP:0001324	HP:0003701	Proximal muscle weakness	1	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.		223
HP:0001324	HP:0000467	Neck muscle weakness	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0001324	HP:0003690	Limb muscle weakness	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0001324	HP:0003701	Proximal muscle weakness	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0001324	HP:0003701	Proximal muscle weakness	1	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C			83
HP:0001324	HP:0002460	Distal muscle weakness	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040282 - Frequent		493
HP:0001324	HP:0003690	Limb muscle weakness	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0001324	HP:0002460	Distal muscle weakness	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0001324	HP:0003690	Limb muscle weakness	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0001324	HP:0003701	Proximal muscle weakness	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C			493
HP:0001324	HP:0010628	Facial palsy	1	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0001324	HP:0010628	Facial palsy	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001324	HP:0003690	Limb muscle weakness	1	SIGMAR1 CL E G H	10280	8157	OMIM:614373	Amyotrophic lateral sclerosis 16, juvenile	.		6
HP:0001324	HP:0000467	Neck muscle weakness	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			6
HP:0001324	HP:0002460	Distal muscle weakness	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0001324	HP:0003701	Proximal muscle weakness	1	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0001324	HP:0002460	Distal muscle weakness	1	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.		6
HP:0001324	HP:0003690	Limb muscle weakness	1	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2			6
HP:0001324	HP:0002421	Poor head control	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		11
HP:0001324	HP:0010547	Muscle flaccidity	1	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent		67
HP:0001324	HP:0003323	Progressive muscle weakness	1	SIL1 CL E G H	64374	24624	OMIM:248800	Marinesco-Sjogren syndrome	.		67
HP:0001324	HP:0010628	Facial palsy	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040283 - Occasional		50
HP:0001324	HP:0010628	Facial palsy	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040283 - Occasional		50
HP:0001324	HP:0010628	Facial palsy	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1			50
HP:0001324	HP:0010628	Facial palsy	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040283 - Occasional		10
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0001324	HP:0003324	Generalized muscle weakness	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0001324	HP:0003324	Generalized muscle weakness	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome	.		145
HP:0001324	HP:0002460	Distal muscle weakness	1	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0003690	Limb muscle weakness	1	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0003701	Proximal muscle weakness	1	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0003690	Limb muscle weakness	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0001324	HP:0010628	Facial palsy	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0001324	HP:0002421	Poor head control	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0001324	HP:0002421	Poor head control	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0001324	HP:0003324	Generalized muscle weakness	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0001324	HP:0002421	Poor head control	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent		2
HP:0001324	HP:0002421	Poor head control	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2			2
HP:0001324	HP:0010628	Facial palsy	1	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic	.		2
HP:0001324	HP:0000467	Neck muscle weakness	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0001283	Bulbar palsy	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001324	HP:0002421	Poor head control	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0002460	Distal muscle weakness	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0003324	Generalized muscle weakness	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0003473	Fatigable weakness	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0003690	Limb muscle weakness	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0003701	Proximal muscle weakness	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0010628	Facial palsy	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0010628	Facial palsy	1	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)			110
HP:0001324	HP:0002421	Poor head control	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001324	HP:0003701	Proximal muscle weakness	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0001324	HP:0000467	Neck muscle weakness	1	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent		207
HP:0001324	HP:0000467	Neck muscle weakness	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic	.		28
HP:0001324	HP:0001283	Bulbar palsy	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0001324	HP:0003473	Fatigable weakness	1	SLC25A1 CL E G H	6576	10979	OMIM:618197	Myasthenic syndrome, congenital, 23, presynaptic			28
HP:0001324	HP:0000467	Neck muscle weakness	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		28
HP:0001324	HP:0001283	Bulbar palsy	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0001324	HP:0002421	Poor head control	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0001324	HP:0002460	Distal muscle weakness	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001324	HP:0003324	Generalized muscle weakness	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0001324	HP:0003473	Fatigable weakness	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		28
HP:0001324	HP:0003690	Limb muscle weakness	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001324	HP:0003701	Proximal muscle weakness	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		28
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001324	HP:0010628	Facial palsy	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001324	HP:0002421	Poor head control	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001324	HP:0002460	Distal muscle weakness	1	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0001324	HP:0002460	Distal muscle weakness	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001324	HP:0003690	Limb muscle weakness	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001324	HP:0003701	Proximal muscle weakness	1	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001324	HP:0002421	Poor head control	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		166
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001324	HP:0003690	Limb muscle weakness	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		68
HP:0001324	HP:0003701	Proximal muscle weakness	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001324	HP:0010628	Facial palsy	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		68
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0001324	HP:0003324	Generalized muscle weakness	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.		68
HP:0001324	HP:0010628	Facial palsy	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.		68
HP:0001324	HP:0003324	Generalized muscle weakness	1	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0001324	HP:0003690	Limb muscle weakness	1	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42			48
HP:0001324	HP:0003473	Fatigable weakness	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional		7
HP:0001324	HP:0002421	Poor head control	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001324	HP:0002421	Poor head control	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001324	HP:0010628	Facial palsy	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0001324	HP:0002421	Poor head control	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0001324	HP:0002421	Poor head control	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040282 - Frequent		11
HP:0001324	HP:0000467	Neck muscle weakness	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.		47
HP:0001324	HP:0001283	Bulbar palsy	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.		47
HP:0001324	HP:0003690	Limb muscle weakness	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.		47
HP:0001324	HP:0010628	Facial palsy	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	.		47
HP:0001324	HP:0000467	Neck muscle weakness	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0001324	HP:0001283	Bulbar palsy	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0001324	HP:0003701	Proximal muscle weakness	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0001324	HP:0009113	Diaphragmatic weakness	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0001324	HP:0010628	Facial palsy	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.		51
HP:0001324	HP:0001283	Bulbar palsy	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.		51
HP:0001324	HP:0009113	Diaphragmatic weakness	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.		51
HP:0001324	HP:0010628	Facial palsy	1	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood			51
HP:0001324	HP:0002460	Distal muscle weakness	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001324	HP:0003690	Limb muscle weakness	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001324	HP:0002421	Poor head control	1	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0001324	HP:0000467	Neck muscle weakness	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0001324	HP:0001283	Bulbar palsy	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0001324	HP:0003473	Fatigable weakness	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic			9
HP:0001324	HP:0003701	Proximal muscle weakness	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0001324	HP:0010628	Facial palsy	1	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic	.		9
HP:0001324	HP:0002460	Distal muscle weakness	1	SLC5A7 CL E G H	60482	14025	OMIM:158580	Neuronopathy, distal hereditary motor, type VIIA	.		9
HP:0001324	HP:0000467	Neck muscle weakness	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		9
HP:0001324	HP:0001283	Bulbar palsy	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0001324	HP:0002421	Poor head control	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0001324	HP:0002460	Distal muscle weakness	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001324	HP:0003324	Generalized muscle weakness	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0001324	HP:0003473	Fatigable weakness	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		9
HP:0001324	HP:0003690	Limb muscle weakness	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001324	HP:0003701	Proximal muscle weakness	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		9
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001324	HP:0010628	Facial palsy	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001324	HP:0003690	Limb muscle weakness	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0001324	HP:0010628	Facial palsy	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0001324	HP:0003690	Limb muscle weakness	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0001324	HP:0010628	Facial palsy	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0001324	HP:0003690	Limb muscle weakness	1	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0001324	HP:0010628	Facial palsy	1	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0001324	HP:0002421	Poor head control	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001324	HP:0003690	Limb muscle weakness	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001324	HP:0003701	Proximal muscle weakness	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0001324	HP:0003690	Limb muscle weakness	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0001324	HP:0003701	Proximal muscle weakness	1	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III	.		22
HP:0001324	HP:0003701	Proximal muscle weakness	1	SMN1 CL E G H	6606	11117	OMIM:271150	Spinal muscular atrophy, type IV	.		22
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0001324	HP:0003690	Limb muscle weakness	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0001324	HP:0003701	Proximal muscle weakness	1	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III	.		1
HP:0001324	HP:0003690	Limb muscle weakness	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0001324	HP:0010628	Facial palsy	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0001324	HP:0002460	Distal muscle weakness	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0003690	Limb muscle weakness	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0003701	Proximal muscle weakness	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0003473	Fatigable weakness	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0001324	HP:0000467	Neck muscle weakness	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0001283	Bulbar palsy	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001324	HP:0002421	Poor head control	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0002460	Distal muscle weakness	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0003324	Generalized muscle weakness	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0003473	Fatigable weakness	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0003690	Limb muscle weakness	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0003701	Proximal muscle weakness	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0010628	Facial palsy	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0002421	Poor head control	1	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040281 - Very frequent		94
HP:0001324	HP:0002421	Poor head control	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome			94
HP:0001324	HP:0010628	Facial palsy	1	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.		2
HP:0001324	HP:0003324	Generalized muscle weakness	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		53
HP:0001324	HP:0003473	Fatigable weakness	1	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis			53
HP:0001324	HP:0002460	Distal muscle weakness	1	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0001324	HP:0003690	Limb muscle weakness	1	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0001324	HP:0003701	Proximal muscle weakness	1	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0001324	HP:0010628	Facial palsy	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0001324	HP:0010628	Facial palsy	1	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040282 - Frequent		26
HP:0001324	HP:0010628	Facial palsy	1	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040282 - Frequent		26
HP:0001324	HP:0010628	Facial palsy	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0001324	HP:0002460	Distal muscle weakness	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0001324	HP:0003690	Limb muscle weakness	1	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20			66
HP:0001324	HP:0003690	Limb muscle weakness	1	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive			66
HP:0001324	HP:0003690	Limb muscle weakness	1	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4			208
HP:0001324	HP:0003690	Limb muscle weakness	1	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant			208
HP:0001324	HP:0003323	Progressive muscle weakness	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		20
HP:0001324	HP:0003701	Proximal muscle weakness	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0001324	HP:0010628	Facial palsy	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		20
HP:0001324	HP:0003327	Axial muscle weakness	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0001324	HP:0010628	Facial palsy	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0001324	HP:0002460	Distal muscle weakness	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.		287
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile			287
HP:0001324	HP:0003690	Limb muscle weakness	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0001324	HP:0003690	Limb muscle weakness	1	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X			287
HP:0001324	HP:0000467	Neck muscle weakness	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			287
HP:0001324	HP:0002460	Distal muscle weakness	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		287
HP:0001324	HP:0003701	Proximal muscle weakness	1	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0001324	HP:0003690	Limb muscle weakness	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0001324	HP:0003690	Limb muscle weakness	1	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21			28
HP:0001324	HP:0003690	Limb muscle weakness	1	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome			28
HP:0001324	HP:0003690	Limb muscle weakness	1	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0001324	HP:0003690	Limb muscle weakness	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7			171
HP:0001324	HP:0002421	Poor head control	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0001324	HP:0010628	Facial palsy	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	.		3
HP:0001324	HP:0002460	Distal muscle weakness	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		54
HP:0001324	HP:0003690	Limb muscle weakness	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			54
HP:0001324	HP:0000467	Neck muscle weakness	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis			54
HP:0001324	HP:0002460	Distal muscle weakness	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040282 - Frequent		54
HP:0001324	HP:0003701	Proximal muscle weakness	1	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0001324	HP:0002460	Distal muscle weakness	1	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA	.		54
HP:0001324	HP:0002460	Distal muscle weakness	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		149
HP:0001324	HP:0003690	Limb muscle weakness	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1			149
HP:0001324	HP:0002460	Distal muscle weakness	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC	.		149
HP:0001324	HP:0003690	Limb muscle weakness	1	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0001324	HP:0003324	Generalized muscle weakness	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		62
HP:0001324	HP:0003473	Fatigable weakness	1	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis			62
HP:0001324	HP:0002460	Distal muscle weakness	1	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type			62
HP:0001324	HP:0003690	Limb muscle weakness	1	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type			62
HP:0001324	HP:0001283	Bulbar palsy	1	SQSTM1 CL E G H	8878	11280	OMIM:616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	.		62
HP:0001324	HP:0001283	Bulbar palsy	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		62
HP:0001324	HP:0002460	Distal muscle weakness	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		62
HP:0001324	HP:0003701	Proximal muscle weakness	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		62
HP:0001324	HP:0003690	Limb muscle weakness	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV			62
HP:0001324	HP:0010628	Facial palsy	1	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV			62
HP:0001324	HP:0010628	Facial palsy	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria			50
HP:0001324	HP:0003701	Proximal muscle weakness	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	.		31
HP:0001324	HP:0003701	Proximal muscle weakness	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.		31
HP:0001324	HP:0003473	Fatigable weakness	1	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		31
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0001324	HP:0010628	Facial palsy	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)			66
HP:0001324	HP:0002421	Poor head control	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0001324	HP:0003690	Limb muscle weakness	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0001324	HP:0010628	Facial palsy	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0001324	HP:0010628	Facial palsy	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0001324	HP:0003701	Proximal muscle weakness	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0001324	HP:0003690	Limb muscle weakness	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001324	HP:0003701	Proximal muscle weakness	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001324	HP:0003690	Limb muscle weakness	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0001324	HP:0003473	Fatigable weakness	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001324	HP:0003701	Proximal muscle weakness	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001324	HP:0010628	Facial palsy	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001324	HP:0000467	Neck muscle weakness	1	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	.		1129
HP:0001324	HP:0003701	Proximal muscle weakness	1	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	.		1129
HP:0001324	HP:0003690	Limb muscle weakness	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001324	HP:0003701	Proximal muscle weakness	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001324	HP:0003701	Proximal muscle weakness	1	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	.		508
HP:0001324	HP:0002421	Poor head control	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0002421	Poor head control	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0001324	HP:0002460	Distal muscle weakness	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	.		4
HP:0001324	HP:0003690	Limb muscle weakness	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0001324	HP:0003701	Proximal muscle weakness	1	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic	HP:0040283 - Occasional		4
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001324	HP:0000467	Neck muscle weakness	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		4
HP:0001324	HP:0001283	Bulbar palsy	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0001324	HP:0002421	Poor head control	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0001324	HP:0002460	Distal muscle weakness	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001324	HP:0003324	Generalized muscle weakness	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0001324	HP:0003473	Fatigable weakness	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		4
HP:0001324	HP:0003690	Limb muscle weakness	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001324	HP:0003701	Proximal muscle weakness	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		4
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001324	HP:0010628	Facial palsy	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001324	HP:0002421	Poor head control	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0001324	HP:0003324	Generalized muscle weakness	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent
HP:0001324	HP:0003473	Fatigable weakness	1	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis
HP:0001324	HP:0003701	Proximal muscle weakness	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001324	HP:0003324	Generalized muscle weakness	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		65
HP:0001324	HP:0003473	Fatigable weakness	1	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis			65
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia			65
HP:0001324	HP:0001283	Bulbar palsy	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		65
HP:0001324	HP:0002460	Distal muscle weakness	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		65
HP:0001324	HP:0003701	Proximal muscle weakness	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		65
HP:0001324	HP:0003690	Limb muscle weakness	1	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome			52
HP:0001324	HP:0003690	Limb muscle weakness	1	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0001324	HP:0003323	Progressive muscle weakness	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040281 - Very frequent		13
HP:0001324	HP:0003324	Generalized muscle weakness	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		20
HP:0001324	HP:0003473	Fatigable weakness	1	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0001324	HP:0001283	Bulbar palsy	1	TBK1 CL E G H	29110	11584	OMIM:616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	.		20
HP:0001324	HP:0001283	Bulbar palsy	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		20
HP:0001324	HP:0002460	Distal muscle weakness	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		20
HP:0001324	HP:0003701	Proximal muscle weakness	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		20
HP:0001324	HP:0002460	Distal muscle weakness	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G			78
HP:0001324	HP:0003690	Limb muscle weakness	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G			78
HP:0001324	HP:0003701	Proximal muscle weakness	1	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G			78
HP:0001324	HP:0010628	Facial palsy	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.		82
HP:0001324	HP:0002460	Distal muscle weakness	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0001324	HP:0003690	Limb muscle weakness	1	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0001324	HP:0003690	Limb muscle weakness	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0001324	HP:0010628	Facial palsy	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0001324	HP:0010628	Facial palsy	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome			12
HP:0001324	HP:0003473	Fatigable weakness	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0001324	HP:0003690	Limb muscle weakness	1	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0001324	HP:0003701	Proximal muscle weakness	1	TFG CL E G H	10342	11758	OMIM:604484	Neuropathy, hereditary motor and sensory, Okinawa type	.		18
HP:0001324	HP:0010628	Facial palsy	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0001324	HP:0000467	Neck muscle weakness	1	TGM6 CL E G H	343641	16255	OMIM:613908	Spinocerebellar ataxia 35	.		58
HP:0001324	HP:0000467	Neck muscle weakness	1	TGM6 CL E G H	343641	16255	ORPHA:276193	Spinocerebellar ataxia type 35	HP:0040283 - Occasional		58
HP:0001324	HP:0001283	Bulbar palsy	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0001324	HP:0003690	Limb muscle weakness	1	TIA1 CL E G H	7072	11802	OMIM:619133	AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS26			5
HP:0001324	HP:0002460	Distal muscle weakness	1	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type			5
HP:0001324	HP:0003690	Limb muscle weakness	1	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type			5
HP:0001324	HP:0002460	Distal muscle weakness	1	TIA1 CL E G H	7072	11802	OMIM:604454	Welander distal myopathy	.		5
HP:0001324	HP:0002421	Poor head control	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0001324	HP:0003701	Proximal muscle weakness	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		103
HP:0001324	HP:0010628	Facial palsy	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent		103
HP:0001324	HP:0003690	Limb muscle weakness	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0001324	HP:0003701	Proximal muscle weakness	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0001324	HP:0010628	Facial palsy	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)			103
HP:0001324	HP:0001283	Bulbar palsy	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional		103
HP:0001324	HP:0002460	Distal muscle weakness	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0001324	HP:0003323	Progressive muscle weakness	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0001324	HP:0003324	Generalized muscle weakness	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0001324	HP:0003701	Proximal muscle weakness	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form			103
HP:0001324	HP:0003701	Proximal muscle weakness	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.		103
HP:0001324	HP:0010628	Facial palsy	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.		103
HP:0001324	HP:0002421	Poor head control	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0001324	HP:0003690	Limb muscle weakness	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001324	HP:0003701	Proximal muscle weakness	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001324	HP:0000467	Neck muscle weakness	1	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	.		171
HP:0001324	HP:0003701	Proximal muscle weakness	1	TMEM43 CL E G H	79188	28472	OMIM:614302	Emery-Dreifuss muscular dystrophy 7, autosomal dominant	.		171
HP:0001324	HP:0002421	Poor head control	1	TMEM63A CL E G H	9725	29118	OMIM:618688	LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0001324	HP:0003323	Progressive muscle weakness	1	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040282 - Frequent		37
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy			37
HP:0001324	HP:0003323	Progressive muscle weakness	1	TNNT1 CL E G H	7138	11948	OMIM:605355	NEMALINE MYOPATHY 5; NEM5			37
HP:0001324	HP:0002460	Distal muscle weakness	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2			71
HP:0001324	HP:0002460	Distal muscle weakness	1	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0001324	HP:0003701	Proximal muscle weakness	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040282 - Frequent		134
HP:0001324	HP:0003701	Proximal muscle weakness	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	HP:0040283 - Occasional		134
HP:0001324	HP:0003473	Fatigable weakness	1	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7			6
HP:0001324	HP:0000467	Neck muscle weakness	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0001324	HP:0003701	Proximal muscle weakness	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0001324	HP:0010628	Facial palsy	1	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant			47
HP:0001324	HP:0002460	Distal muscle weakness	1	TOR1AIP1 CL E G H	26092	29456	OMIM:617072	Muscular dystrophy, limb-girdle, type 2Y			10
HP:0001324	HP:0003473	Fatigable weakness	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001324	HP:0009113	Diaphragmatic weakness	1	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency			28
HP:0001324	HP:0003323	Progressive muscle weakness	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001324	HP:0002421	Poor head control	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0003473	Fatigable weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0001324	HP:0003690	Limb muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0001324	HP:0003701	Proximal muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0001324	HP:0010628	Facial palsy	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0000467	Neck muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0003473	Fatigable weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001324	HP:0003690	Limb muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001324	HP:0010628	Facial palsy	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001324	HP:0002421	Poor head control	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0003323	Progressive muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent		54
HP:0001324	HP:0003324	Generalized muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001324	HP:0003473	Fatigable weakness	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001324	HP:0003690	Limb muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0004878	Intercostal muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0001283	Bulbar palsy	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0001324	HP:0003324	Generalized muscle weakness	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0001324	HP:0003701	Proximal muscle weakness	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001324	HP:0010628	Facial palsy	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0001324	HP:0000467	Neck muscle weakness	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0001324	HP:0003690	Limb muscle weakness	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0001324	HP:0003701	Proximal muscle weakness	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0001324	HP:0010628	Facial palsy	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4			54
HP:0001324	HP:0000467	Neck muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0003327	Axial muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0003473	Fatigable weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0001324	HP:0003690	Limb muscle weakness	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0001324	HP:0010628	Facial palsy	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0002421	Poor head control	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0003473	Fatigable weakness	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0001324	HP:0003690	Limb muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0001324	HP:0003701	Proximal muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0001324	HP:0010628	Facial palsy	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0000467	Neck muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0003473	Fatigable weakness	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001324	HP:0003690	Limb muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040282 - Frequent		108
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001324	HP:0010628	Facial palsy	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001324	HP:0002421	Poor head control	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0001324	HP:0003323	Progressive muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040281 - Very frequent		108
HP:0001324	HP:0003324	Generalized muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001324	HP:0003473	Fatigable weakness	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001324	HP:0003690	Limb muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0001324	HP:0004878	Intercostal muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0003324	Generalized muscle weakness	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040281 - Very frequent		108
HP:0001324	HP:0010628	Facial palsy	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0001324	HP:0001283	Bulbar palsy	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0001324	HP:0003324	Generalized muscle weakness	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0001324	HP:0003701	Proximal muscle weakness	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001324	HP:0010628	Facial palsy	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0001324	HP:0000467	Neck muscle weakness	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0001324	HP:0002460	Distal muscle weakness	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0001324	HP:0003324	Generalized muscle weakness	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0001324	HP:0003690	Limb muscle weakness	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0001324	HP:0003701	Proximal muscle weakness	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0001324	HP:0010628	Facial palsy	1	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0001324	HP:0003690	Limb muscle weakness	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0001324	HP:0010628	Facial palsy	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0001324	HP:0002421	Poor head control	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001324	HP:0003323	Progressive muscle weakness	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent		27
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRDN CL E G H	10345	12261	OMIM:615441	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS; CPVT5			145
HP:0001324	HP:0003324	Generalized muscle weakness	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		31
HP:0001324	HP:0003473	Fatigable weakness	1	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis			31
HP:0001324	HP:0002421	Poor head control	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0001324	HP:0000467	Neck muscle weakness	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0001324	HP:0003690	Limb muscle weakness	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0001324	HP:0010628	Facial palsy	1	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0001324	HP:0003690	Limb muscle weakness	1	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8			108
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8			108
HP:0001324	HP:0002421	Poor head control	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040282 - Frequent		1
HP:0001324	HP:0000467	Neck muscle weakness	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent		4
HP:0001324	HP:0002421	Poor head control	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent		4
HP:0001324	HP:0003690	Limb muscle weakness	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040282 - Frequent		4
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome			4
HP:0001324	HP:0000467	Neck muscle weakness	1	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.		4
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type			4
HP:0001324	HP:0002460	Distal muscle weakness	1	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional		7
HP:0001324	HP:0003323	Progressive muscle weakness	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0001324	HP:0012507	Weakness of orbicularis oculi muscle	1	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0001324	HP:0003323	Progressive muscle weakness	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0003327	Axial muscle weakness	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0003323	Progressive muscle weakness	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0003327	Axial muscle weakness	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001324	HP:0003323	Progressive muscle weakness	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0003327	Axial muscle weakness	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001324	HP:0003323	Progressive muscle weakness	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0003327	Axial muscle weakness	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0001324	HP:0001283	Bulbar palsy	1	TRPM7 CL E G H	54822	17994	OMIM:105500	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	.		2
HP:0001324	HP:0002460	Distal muscle weakness	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0001324	HP:0003690	Limb muscle weakness	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001324	HP:0004878	Intercostal muscle weakness	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0001324	HP:0009113	Diaphragmatic weakness	1	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0001324	HP:0002460	Distal muscle weakness	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0001324	HP:0003690	Limb muscle weakness	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0001324	HP:0003701	Proximal muscle weakness	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0001324	HP:0009113	Diaphragmatic weakness	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0001324	HP:0010628	Facial palsy	1	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0001324	HP:0002460	Distal muscle weakness	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0001324	HP:0003690	Limb muscle weakness	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0001324	HP:0003323	Progressive muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		7128
HP:0001324	HP:0003701	Proximal muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0001324	HP:0010628	Facial palsy	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		7128
HP:0001324	HP:0002421	Poor head control	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0001324	HP:0003327	Axial muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001324	HP:0000467	Neck muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0001324	HP:0002460	Distal muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040283 - Occasional		7128
HP:0001324	HP:0003690	Limb muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0001324	HP:0003701	Proximal muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040283 - Occasional		7128
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0001324	HP:0002460	Distal muscle weakness	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	.		7128
HP:0001324	HP:0003701	Proximal muscle weakness	1	TTN CL E G H	7273	12403	OMIM:608807	Muscular dystrophy, limb-girdle, autosomal recessive 10	.		7128
HP:0001324	HP:0000467	Neck muscle weakness	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0003690	Limb muscle weakness	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0003701	Proximal muscle weakness	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0009113	Diaphragmatic weakness	1	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0003324	Generalized muscle weakness	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.		7128
HP:0001324	HP:0010628	Facial palsy	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.		7128
HP:0001324	HP:0002460	Distal muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy			7128
HP:0001324	HP:0003690	Limb muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy			7128
HP:0001324	HP:0003701	Proximal muscle weakness	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy			7128
HP:0001324	HP:0031374	Ankle weakness	1	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent		7128
HP:0001324	HP:0010628	Facial palsy	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	HP:0040283 - Occasional		64
HP:0001324	HP:0010628	Facial palsy	1	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	.
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001324	HP:0003690	Limb muscle weakness	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		113
HP:0001324	HP:0003701	Proximal muscle weakness	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001324	HP:0010628	Facial palsy	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		113
HP:0001324	HP:0003323	Progressive muscle weakness	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0001324	HP:0003690	Limb muscle weakness	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0001324	HP:0003701	Proximal muscle weakness	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.		113
HP:0001324	HP:0002460	Distal muscle weakness	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001324	HP:0003324	Generalized muscle weakness	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001324	HP:0003701	Proximal muscle weakness	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0001324	HP:0003701	Proximal muscle weakness	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0001324	HP:0002460	Distal muscle weakness	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.		138
HP:0001324	HP:0002460	Distal muscle weakness	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		138
HP:0001324	HP:0003690	Limb muscle weakness	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0001324	HP:0002460	Distal muscle weakness	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional		35
HP:0001324	HP:0003324	Generalized muscle weakness	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040283 - Occasional		35
HP:0001324	HP:0003701	Proximal muscle weakness	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent		35
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0001324	HP:0010628	Facial palsy	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0001324	HP:0010628	Facial palsy	1	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional
HP:0001324	HP:0002421	Poor head control	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0003690	Limb muscle weakness	1	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12
HP:0001324	HP:0010547	Muscle flaccidity	1	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent		13
HP:0001324	HP:0003324	Generalized muscle weakness	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		20
HP:0001324	HP:0003473	Fatigable weakness	1	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis			20
HP:0001324	HP:0002421	Poor head control	1	UFC1 CL E G H	51506	26941	OMIM:618076	Neurodevelopmental disorder with spasticity and poor growth	.
HP:0001324	HP:0003324	Generalized muscle weakness	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		1
HP:0001324	HP:0003473	Fatigable weakness	1	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis			1
HP:0001324	HP:0003327	Axial muscle weakness	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001324	HP:0003701	Proximal muscle weakness	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001324	HP:0003473	Fatigable weakness	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001324	HP:0003473	Fatigable weakness	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001324	HP:0000467	Neck muscle weakness	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0001283	Bulbar palsy	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001324	HP:0002421	Poor head control	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0002460	Distal muscle weakness	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0003324	Generalized muscle weakness	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0003473	Fatigable weakness	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0003690	Limb muscle weakness	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0003701	Proximal muscle weakness	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0010628	Facial palsy	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0003324	Generalized muscle weakness	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		116
HP:0001324	HP:0003473	Fatigable weakness	1	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis			116
HP:0001324	HP:0002460	Distal muscle weakness	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0001324	HP:0003323	Progressive muscle weakness	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0001324	HP:0003701	Proximal muscle weakness	1	VAPB CL E G H	9217	12649	OMIM:608627	Amyotrophic lateral sclerosis 8			116
HP:0001324	HP:0002460	Distal muscle weakness	1	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included			116
HP:0001324	HP:0003701	Proximal muscle weakness	1	VAPB CL E G H	9217	12649	OMIM:182980	Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included	.		116
HP:0001324	HP:0002421	Poor head control	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001324	HP:0002460	Distal muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040281 - Very frequent		63
HP:0001324	HP:0003690	Limb muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0001324	HP:0010628	Facial palsy	1	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation			63
HP:0001324	HP:0003324	Generalized muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040281 - Very frequent		63
HP:0001324	HP:0003473	Fatigable weakness	1	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis			63
HP:0001324	HP:0003690	Limb muscle weakness	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0001324	HP:0003701	Proximal muscle weakness	1	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0001324	HP:0002460	Distal muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent		63
HP:0001324	HP:0003690	Limb muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0001324	HP:0003701	Proximal muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0001324	HP:0001283	Bulbar palsy	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional		63
HP:0001324	HP:0002460	Distal muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		63
HP:0001324	HP:0003701	Proximal muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040282 - Frequent		63
HP:0001324	HP:0003323	Progressive muscle weakness	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0001324	HP:0003325	Limb-girdle muscle weakness	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0001324	HP:0003690	Limb muscle weakness	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0001324	HP:0003701	Proximal muscle weakness	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0001324	HP:0010628	Facial palsy	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	HP:0040283 - Occasional		63
HP:0001324	HP:0002460	Distal muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0001324	HP:0003701	Proximal muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63
HP:0001324	HP:0003324	Generalized muscle weakness	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040280 - Obligate		63
HP:0001324	HP:0009023	Abdominal wall muscle weakness	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0001324	HP:0002460	Distal muscle weakness	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0001324	HP:0003690	Limb muscle weakness	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0001324	HP:0003690	Limb muscle weakness	1	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy			10
HP:0001324	HP:0003701	Proximal muscle weakness	1	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy			10
HP:0001324	HP:0002460	Distal muscle weakness	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent		130
HP:0001324	HP:0003690	Limb muscle weakness	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.		130
HP:0001324	HP:0002460	Distal muscle weakness	1	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0001324	HP:0002421	Poor head control	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0001324	HP:0004878	Intercostal muscle weakness	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A			32
HP:0001324	HP:0002460	Distal muscle weakness	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0003690	Limb muscle weakness	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0003701	Proximal muscle weakness	1	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0002421	Poor head control	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0001324	HP:0003690	Limb muscle weakness	1	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8			83
HP:0001324	HP:0003690	Limb muscle weakness	1	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant			83
HP:0001324	HP:0002421	Poor head control	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0001324	HP:0002460	Distal muscle weakness	1	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26	.		4
HP:0001324	HP:0010628	Facial palsy	1	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U			125
HP:0001324	HP:0002460	Distal muscle weakness	1	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C	.
HP:0001324	HP:0003690	Limb muscle weakness	1	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C
HP:0001324	HP:0003323	Progressive muscle weakness	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0001324	HP:0004347	Weakness of muscles of respiration	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001324	HP:0010628	Facial palsy	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0001324	HP:0002421	Poor head control	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001324	HP:0003324	Generalized muscle weakness	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040282 - Frequent		7
HP:0001324	HP:0010628	Facial palsy	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0001324	HP:0002460	Distal muscle weakness	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001324	HP:0010628	Facial palsy	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001324	HP:0010628	Facial palsy	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0001324	HP:0002460	Distal muscle weakness	1	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040283 - Occasional
HP:0001324	HP:0003690	Limb muscle weakness	1	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15			189
HP:0001324	HP:0003690	Limb muscle weakness	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0001324	HP:0003690	Limb muscle weakness	1	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant			52
HP:0001324	HP:0002421	Poor head control	1	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0001324	HP:0007340	Lower limb muscle weakness	2	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	AARS1 CL E G H	16	20	OMIM:613287	Charcot-Marie-Tooth disease, axonal, type 2N	.
HP:0001324	HP:0001349	Facial diplegia	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0001324	HP:0001349	Facial diplegia	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional		191
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy			135
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent		135
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040281 - Very frequent		90
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0001324	HP:0003391	Gowers sign	2	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD			1
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ACOX1 CL E G H	51	119	OMIM:618960	MITCHELL SYNDROME; MITCH			120
HP:0001324	HP:0001349	Facial diplegia	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0001349	Facial diplegia	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0001324	HP:0003484	Upper limb muscle weakness	2	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0001324	HP:0003722	Neck flexor weakness	2	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal			96
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001324	HP:0003722	Neck flexor weakness	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001324	HP:0003810	Late-onset distal muscle weakness	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001324	HP:0003391	Gowers sign	2	ACTA1 CL E G H	58	129	ORPHA:97244	Rigid spine syndrome	HP:0040283 - Occasional		96
HP:0001324	HP:0001349	Facial diplegia	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0001349	Facial diplegia	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0003722	Neck flexor weakness	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0001324	HP:0003391	Gowers sign	2	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent		96
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ACTN2 CL E G H	88	164	OMIM:618655	MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT; MPD6			307
HP:0001324	HP:0003484	Upper limb muscle weakness	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		116
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		116
HP:0001324	HP:0001349	Facial diplegia	2	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8	.		2
HP:0001324	HP:0001349	Facial diplegia	2	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		88
HP:0001324	HP:0003484	Upper limb muscle weakness	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0007340	Lower limb muscle weakness	2	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0001324	HP:0003484	Upper limb muscle weakness	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0001324	HP:0003722	Neck flexor weakness	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0004661	Frontalis muscle weakness	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		127
HP:0001324	HP:0007340	Lower limb muscle weakness	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.		60
HP:0001324	HP:0003484	Upper limb muscle weakness	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		1
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		1
HP:0001324	HP:0003722	Neck flexor weakness	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		1
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0001324	HP:0003484	Upper limb muscle weakness	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0001324	HP:0007340	Lower limb muscle weakness	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0001324	HP:0002203	Respiratory paralysis	2	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.		62
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ALDH18A1 CL E G H	5832	9722	OMIM:616586	Spastic paraplegia 9B, autosomal recessive	HP:0040283 - Occasional		89
HP:0001324	HP:0003391	Gowers sign	2	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		12
HP:0001324	HP:0003391	Gowers sign	2	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		46
HP:0001324	HP:0003391	Gowers sign	2	ALG2 CL E G H	85365	23159	OMIM:616228	Myasthenic syndrome, congenital, 14	.		46
HP:0001324	HP:0003722	Neck flexor weakness	2	ALS2 CL E G H	57679	443	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		114
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0001324	HP:0003484	Upper limb muscle weakness	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040281 - Very frequent		304
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent		304
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040281 - Very frequent		304
HP:0001324	HP:0003484	Upper limb muscle weakness	2	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy			304
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy			304
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040283 - Occasional		304
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040281 - Very frequent		304
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040283 - Occasional		304
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.		304
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L	.		304
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0003484	Upper limb muscle weakness	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001324	HP:0007340	Lower limb muscle weakness	2	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent		165
HP:0001324	HP:0007340	Lower limb muscle weakness	2	AP5Z1 CL E G H	9907	22197	OMIM:613647	Spastic paraplegia 48, autosomal recessive	.		165
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0001324	HP:0003391	Gowers sign	2	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040282 - Frequent		78
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040281 - Very frequent		78
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3			71
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040281 - Very frequent		71
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		71
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ATL1 CL E G H	51062	11231	OMIM:182600	Spastic paraplegia 3, autosomal dominant	.		71
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		5
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ATP1A1 CL E G H	476	799	OMIM:618036	Charcot-Marie-Tooth disease, axonal, type 2DD	.		4
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		239
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		239
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ATP5MC3 CL E G H	518	843	OMIM:619681	DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA; DYTSPG
HP:0001324	HP:0003484	Upper limb muscle weakness	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040282 - Frequent
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0001324	HP:0006597	Diaphragmatic paralysis	2	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0001324	HP:0003484	Upper limb muscle weakness	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0001324	HP:0007340	Lower limb muscle weakness	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0001324	HP:0003391	Gowers sign	2	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040282 - Frequent		46
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040284 - Very rare		46
HP:0001324	HP:0003391	Gowers sign	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant	.		46
HP:0001324	HP:0007340	Lower limb muscle weakness	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		99
HP:0001324	HP:0003484	Upper limb muscle weakness	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001324	HP:0001349	Facial diplegia	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0001324	HP:0003391	Gowers sign	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	HP:0040283 - Occasional		99
HP:0001324	HP:0003391	Gowers sign	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2	.		99
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	BSCL2 CL E G H	26580	15832	ORPHA:100998	Autosomal dominant spastic paraplegia type 17	HP:0040282 - Frequent		105
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent		105
HP:0001324	HP:0003484	Upper limb muscle weakness	2	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent		105
HP:0001324	HP:0007340	Lower limb muscle weakness	2	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5			105
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent		105
HP:0001324	HP:0007340	Lower limb muscle weakness	2	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C			105
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C			105
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.		105
HP:0001324	HP:0007340	Lower limb muscle weakness	2	BSCL2 CL E G H	26580	15832	OMIM:270685	Spastic paraplegia 17	.		105
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		449
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		449
HP:0001324	HP:0002203	Respiratory paralysis	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare		247
HP:0001324	HP:0003694	Late-onset proximal muscle weakness	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040283 - Occasional		247
HP:0001324	HP:0003752	Episodic flaccid weakness	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent		247
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	CACNA1S CL E G H	779	1397	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare		247
HP:0001324	HP:0003752	Episodic flaccid weakness	2	CACNA1S CL E G H	779	1397	OMIM:170400	Hypokalemic periodic paralysis, type 1	.		247
HP:0001324	HP:0002203	Respiratory paralysis	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare		247
HP:0001324	HP:0003694	Late-onset proximal muscle weakness	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional		247
HP:0001324	HP:0003752	Episodic flaccid weakness	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent		247
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CACNA1S CL E G H	779	1397	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent		247
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CAPN1 CL E G H	823	1476	ORPHA:488594	Autosomal recessive spastic paraplegia type 76	HP:0040282 - Frequent		4
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CAPN1 CL E G H	823	1476	OMIM:616907	SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE; SPG76			4
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CAPN3 CL E G H	825	1480	ORPHA:267	Calpain-3-related limb-girdle muscular dystrophy R1	HP:0040282 - Frequent		323
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A			323
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy			5
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent		148
HP:0001324	HP:0003722	Neck flexor weakness	2	CAV3 CL E G H	859	1529	OMIM:614321	Myopathy, distal, Tateyama type			148
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	.		1
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	HP:0040283 - Occasional		35
HP:0001324	HP:0003391	Gowers sign	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7	.		35
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0001324	HP:0001349	Facial diplegia	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0001324	HP:0003722	Neck flexor weakness	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		35
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		35
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.		65
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001324	HP:0004661	Frontalis muscle weakness	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		65
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0001324	HP:0003722	Neck flexor weakness	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent		11
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance			11
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent		11
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040283 - Occasional		11
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent		11
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset			11
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040282 - Frequent		11
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional		11
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040281 - Very frequent		11
HP:0001324	HP:0003722	Neck flexor weakness	2	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.		11
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant	.		11
HP:0001324	HP:0003391	Gowers sign	2	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type	.		53
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel			74
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0001324	HP:0003391	Gowers sign	2	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.		74
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		74
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		74
HP:0001324	HP:0003722	Neck flexor weakness	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		74
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		53
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		53
HP:0001324	HP:0003722	Neck flexor weakness	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		53
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		88
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		88
HP:0001324	HP:0003722	Neck flexor weakness	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		88
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.		139
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0001324	HP:0003391	Gowers sign	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		139
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		139
HP:0001324	HP:0003722	Neck flexor weakness	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		139
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0001324	HP:0003722	Neck flexor weakness	2	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2	.		1
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0001324	HP:0001349	Facial diplegia	2	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0001324	HP:0001349	Facial diplegia	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	COA7 CL E G H	65260	25716	OMIM:618387	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	.
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001324	HP:0003391	Gowers sign	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy			65
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		65
HP:0001324	HP:0012497	Reduced maximal expiratory pressure	2	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		65
HP:0001324	HP:0003484	Upper limb muscle weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0001324	HP:0003722	Neck flexor weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0004661	Frontalis muscle weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		6
HP:0001324	HP:0007340	Lower limb muscle weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001324	HP:0001349	Facial diplegia	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0001324	HP:0003484	Upper limb muscle weakness	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0001324	HP:0007340	Lower limb muscle weakness	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent		3
HP:0001324	HP:0003391	Gowers sign	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy			442
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		442
HP:0001324	HP:0012497	Reduced maximal expiratory pressure	2	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		442
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		442
HP:0001324	HP:0003391	Gowers sign	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy			478
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		478
HP:0001324	HP:0012497	Reduced maximal expiratory pressure	2	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		478
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		478
HP:0001324	HP:0003391	Gowers sign	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy			702
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040281 - Very frequent		702
HP:0001324	HP:0012497	Reduced maximal expiratory pressure	2	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040283 - Occasional		702
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.		702
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.		90
HP:0001324	HP:0003484	Upper limb muscle weakness	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0007340	Lower limb muscle weakness	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0001324	HP:0003484	Upper limb muscle weakness	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0007340	Lower limb muscle weakness	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	COX6A1 CL E G H	1337	2277	OMIM:616039	Charcot-Marie-Tooth disease, recessive intermediate D	.		4
HP:0001324	HP:0002203	Respiratory paralysis	2	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.		72
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent		72
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent		72
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73			1
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent		1
HP:0001324	HP:0001349	Facial diplegia	2	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0001324	HP:0001349	Facial diplegia	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040283 - Occasional		46
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040283 - Occasional		46
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent		46
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040281 - Very frequent		46
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040283 - Occasional		46
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.		46
HP:0001324	HP:0003694	Late-onset proximal muscle weakness	2	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.		46
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.		46
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040284 - Very rare		57
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CYP7B1 CL E G H	9420	2652	ORPHA:100986	Autosomal recessive spastic paraplegia type 5A	HP:0040281 - Very frequent		57
HP:0001324	HP:0003484	Upper limb muscle weakness	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive			57
HP:0001324	HP:0007340	Lower limb muscle weakness	2	CYP7B1 CL E G H	9420	2652	OMIM:270800	Spastic paraplegia 5A, autosomal recessive	.		57
HP:0001324	HP:0003391	Gowers sign	2	DAG1 CL E G H	1605	2666	ORPHA:280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	HP:0040283 - Occasional		108
HP:0001324	HP:0003391	Gowers sign	2	DAG1 CL E G H	1605	2666	OMIM:613818	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9	.		108
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB	.		86
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DDHD1 CL E G H	80821	19714	ORPHA:101008	Autosomal recessive spastic paraplegia type 28	HP:0040282 - Frequent		35
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DDHD1 CL E G H	80821	19714	OMIM:609340	Spastic paraplegia 28, autosomal recessive	.		35
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive	.		29
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040282 - Frequent		263
HP:0001324	HP:0003722	Neck flexor weakness	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional		263
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040281 - Very frequent		263
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional		263
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040282 - Frequent		263
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001324	HP:0003694	Late-onset proximal muscle weakness	2	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.		263
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	DES CL E G H	1674	2770	OMIM:181400	Scapuloperoneal syndrome, neurogenic, Kaeser type	.		263
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040283 - Occasional		57
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040282 - Frequent		57
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q			12
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q			12
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0001324	HP:0003391	Gowers sign	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001324	HP:0001349	Facial diplegia	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	DMXL2 CL E G H	23312	2938	ORPHA:453533	Polyendocrine-polyneuropathy syndrome	HP:0040282 - Frequent		3
HP:0001324	HP:0003391	Gowers sign	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent		41
HP:0001324	HP:0003391	Gowers sign	2	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6	.		41
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	DNAJB2 CL E G H	3300	5228	OMIM:614881	Spinal muscular atrophy, distal, autosomal recessive, 5	.		30
HP:0001324	HP:0003391	Gowers sign	2	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.		103
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.		103
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E	.		103
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		167
HP:0001324	HP:0003484	Upper limb muscle weakness	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0001324	HP:0003484	Upper limb muscle weakness	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0001324	HP:0003484	Upper limb muscle weakness	2	DNMT3B CL E G H	1789	2979	OMIM:619478	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4			79
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.		91
HP:0001324	HP:0003391	Gowers sign	2	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	.		91
HP:0001324	HP:0003484	Upper limb muscle weakness	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		91
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		91
HP:0001324	HP:0003722	Neck flexor weakness	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		91
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0001324	HP:0003391	Gowers sign	2	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		38
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent		9
HP:0001324	HP:0003391	Gowers sign	2	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15			9
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DSTYK CL E G H	25778	29043	OMIM:270750	Spastic paraplegia 23	.		13
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	DYM CL E G H	54808	21317	ORPHA:239	Dyggve-Melchior-Clausen disease	HP:0040283 - Occasional		65
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	DYNC1H1 CL E G H	1778	2961	OMIM:158600	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	.		427
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040282 - Frequent		600
HP:0001324	HP:0003484	Upper limb muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0001324	HP:0003722	Neck flexor weakness	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional		600
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040282 - Frequent		600
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040284 - Very rare		600
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040282 - Frequent		600
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional		600
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DYSF CL E G H	8291	3097	OMIM:254130	Miyoshi muscular dystrophy 1	.		600
HP:0001324	HP:0003484	Upper limb muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent		600
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent		600
HP:0001324	HP:0007340	Lower limb muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent		600
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional		600
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent		600
HP:0001324	HP:0003484	Upper limb muscle weakness	2	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D	.		58
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	EGR2 CL E G H	1959	3239	OMIM:607678	Charcot-Marie-Tooth disease, demyelinating, type 1D	.		58
HP:0001324	HP:0007340	Lower limb muscle weakness	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0001324	HP:0003484	Upper limb muscle weakness	2	EGR2 CL E G H	1959	3239	OMIM:605253	Neuropathy, congenital hypomyelinating, 1, autosomal recessive	.		58
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		107
HP:0001324	HP:0003484	Upper limb muscle weakness	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		107
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		107
HP:0001324	HP:0007340	Lower limb muscle weakness	2	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ERBB4 CL E G H	2066	3432	OMIM:615515	Amyotrophic lateral sclerosis 19	.		15
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001324	HP:0003484	Upper limb muscle weakness	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ERLIN2 CL E G H	11160	1356	OMIM:611225	Spastic paraplegia 18, autosomal recessive	.		18
HP:0001324	HP:0007340	Lower limb muscle weakness	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040281 - Very frequent		76
HP:0001324	HP:0007340	Lower limb muscle weakness	2	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0001324	HP:0003484	Upper limb muscle weakness	2	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0001324	HP:0007340	Lower limb muscle weakness	2	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID	.		1
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0001324	HP:0003484	Upper limb muscle weakness	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H	.		158
HP:0001324	HP:0007340	Lower limb muscle weakness	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	.		68
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	FHL1 CL E G H	2273	3702	OMIM:300717	Myopathy, reducing body, X-linked, early-onset, severe	.		68
HP:0001324	HP:0007340	Lower limb muscle weakness	2	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.		68
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	FHL1 CL E G H	2273	3702	OMIM:300695	Scapuloperoneal myopathy, X-linked dominant	.		68
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		68
HP:0001324	HP:0003484	Upper limb muscle weakness	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		68
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		68
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		157
HP:0001324	HP:0001349	Facial diplegia	2	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		157
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040282 - Frequent		157
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040282 - Frequent		157
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.		157
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0001324	HP:0003391	Gowers sign	2	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X			184
HP:0001324	HP:0001349	Facial diplegia	2	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		184
HP:0001324	HP:0003391	Gowers sign	2	FKTN CL E G H	2218	3622	OMIM:611588	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4	.		184
HP:0001324	HP:0007340	Lower limb muscle weakness	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001324	HP:0007340	Lower limb muscle weakness	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040283 - Occasional		197
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040283 - Occasional		197
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040282 - Frequent		197
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040282 - Frequent		197
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0001324	HP:0030664	Beevor's sign	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0001324	HP:0003722	Neck flexor weakness	2	FUS CL E G H	2521	4010	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		105
HP:0001324	HP:0003484	Upper limb muscle weakness	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional		3
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040282 - Frequent		407
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0001324	HP:0006597	Diaphragmatic paralysis	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0001324	HP:0002203	Respiratory paralysis	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare
HP:0001324	HP:0003694	Late-onset proximal muscle weakness	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional
HP:0001324	HP:0003752	Episodic flaccid weakness	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GABRA3 CL E G H	2556	4077	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent
HP:0001324	HP:0003484	Upper limb muscle weakness	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0001324	HP:0003484	Upper limb muscle weakness	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional		160
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0001324	HP:0003484	Upper limb muscle weakness	2	GARS1 CL E G H	2617	4162	OMIM:601472	Charcot-Marie-Tooth disease, axonal, type 2D	.
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0001324	HP:0003484	Upper limb muscle weakness	2	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0001324	HP:0003484	Upper limb muscle weakness	2	GARS1 CL E G H	2617	4162	OMIM:600794	Neuronopathy, distal hereditary motor, type VA	.
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GARS1 CL E G H	2617	4162	OMIM:619042	SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001324	HP:0003391	Gowers sign	2	GATM CL E G H	2628	4175	OMIM:612718	Cerebral creatine deficiency syndrome 3	HP:0040283 - Occasional		86
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive	.		30
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0001324	HP:0002601	Paresis of extensor muscles of the big toe	2	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		86
HP:0001324	HP:0003484	Upper limb muscle weakness	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001324	HP:0003484	Upper limb muscle weakness	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	GDAP1 CL E G H	54332	15968	OMIM:608340	Charcot-Marie-Tooth disease, recessive intermediate A	.		108
HP:0001324	HP:0003391	Gowers sign	2	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		128
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0001324	HP:0003391	Gowers sign	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0001324	HP:0003391	Gowers sign	2	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.		128
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0003484	Upper limb muscle weakness	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040284 - Very rare
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040283 - Occasional		107
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0001324	HP:0001349	Facial diplegia	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		34
HP:0001324	HP:0003391	Gowers sign	2	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040283 - Occasional		34
HP:0001324	HP:0003484	Upper limb muscle weakness	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent		173
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent		173
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent		173
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy			173
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy			173
HP:0001324	HP:0003484	Upper limb muscle weakness	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0001324	HP:0003722	Neck flexor weakness	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2			18
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2			18
HP:0001324	HP:0007340	Lower limb muscle weakness	2	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2			18
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2			18
HP:0001324	HP:0003391	Gowers sign	2	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040281 - Very frequent
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040281 - Very frequent
HP:0001324	HP:0003484	Upper limb muscle weakness	2	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	HEXB CL E G H	3074	4879	ORPHA:309169	Sandhoff disease, adult form			80
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional		12
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040281 - Very frequent		12
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia			12
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	HINT1 CL E G H	3094	4912	OMIM:137200	Neuromyotonia and axonal neuropathy, autosomal recessive	.		12
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G			11
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040282 - Frequent		11
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent		11
HP:0001324	HP:0012799	Unilateral facial palsy	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0001324	HP:0002203	Respiratory paralysis	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0001324	HP:0003484	Upper limb muscle weakness	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0001324	HP:0002203	Respiratory paralysis	2	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.		81
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3			31
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	HNRNPA1 CL E G H	3178	5031	OMIM:615424	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3			31
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.		5
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	HNRNPDL CL E G H	9987	5037	OMIM:609115	Limb-girdle muscular dystrophy, type 1G	.		5
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HSPB1 CL E G H	3315	5246	ORPHA:99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	HP:0040281 - Very frequent		47
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	HSPB1 CL E G H	3315	5246	OMIM:606595	Charcot-Marie-Tooth disease, axonal, type 2F	.		47
HP:0001324	HP:0002601	Paresis of extensor muscles of the big toe	2	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.		47
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB			47
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.		47
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.		13
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.		13
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.		13
HP:0001324	HP:0002601	Paresis of extensor muscles of the big toe	2	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.		38
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA			38
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.		38
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HSPD1 CL E G H	3329	5261	ORPHA:100994	Autosomal dominant spastic paraplegia type 13	HP:0040282 - Frequent		46
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HSPD1 CL E G H	3329	5261	OMIM:605280	Spastic paraplegia 13, autosomal dominant	.		46
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0001324	HP:0007340	Lower limb muscle weakness	2	HYCC1 CL E G H	84668	24587	OMIM:610532	Leukodystrophy, hypomyelinating, 5	.
HP:0001324	HP:0007340	Lower limb muscle weakness	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent		16
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	IGHMBP2 CL E G H	3508	5542	OMIM:616155	Charcot-Marie-Tooth disease, axonal, type 2S	.		209
HP:0001324	HP:0006597	Diaphragmatic paralysis	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001324	HP:0002601	Paresis of extensor muscles of the big toe	2	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		1
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.		135
HP:0001324	HP:0003391	Gowers sign	2	INPP5K CL E G H	51763	33882	OMIM:617404	Muscular dystrophy, congenital, with cataracts and intellectual disability	.		7
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		127
HP:0001324	HP:0003391	Gowers sign	2	ITGA7 CL E G H	3679	6143	OMIM:613204	Muscular dystrophy, congenital, due to integrin alpha-7 deficiency			127
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0003484	Upper limb muscle weakness	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0003484	Upper limb muscle weakness	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0007340	Lower limb muscle weakness	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	KARS1 CL E G H	3735	6215	OMIM:613641	Charcot-marie-tooth disease, recessive intermediate B	.
HP:0001324	HP:0001349	Facial diplegia	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0001324	HP:0003722	Neck flexor weakness	2	KBTBD13 CL E G H	390594	37227	OMIM:609273	Nemaline myopathy 6	.		80
HP:0001324	HP:0002203	Respiratory paralysis	2	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare		73
HP:0001324	HP:0003694	Late-onset proximal muscle weakness	2	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040283 - Occasional		73
HP:0001324	HP:0003752	Episodic flaccid weakness	2	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent		73
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	KCNE3 CL E G H	10008	6243	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare		73
HP:0001324	HP:0007340	Lower limb muscle weakness	2	KCNJ10 CL E G H	3766	6256	ORPHA:199343	EAST syndrome	HP:0040283 - Occasional		121
HP:0001324	HP:0002203	Respiratory paralysis	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040284 - Very rare		10
HP:0001324	HP:0003694	Late-onset proximal muscle weakness	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040283 - Occasional		10
HP:0001324	HP:0003752	Episodic flaccid weakness	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent		10
HP:0001324	HP:0007340	Lower limb muscle weakness	2	KCNJ18 CL E G H	100134444	39080	ORPHA:79102	Thyrotoxic periodic paralysis	HP:0040281 - Very frequent		10
HP:0001324	HP:0003752	Episodic flaccid weakness	2	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040281 - Very frequent		193
HP:0001324	HP:0003752	Episodic flaccid weakness	2	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040281 - Very frequent		128
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0001324	HP:0007340	Lower limb muscle weakness	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0001324	HP:0007340	Lower limb muscle weakness	2	KIF1A CL E G H	547	888	OMIM:610357	Spastic paraplegia 30, autosomal recessive	HP:0040282 - Frequent		276
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.		202
HP:0001324	HP:0007340	Lower limb muscle weakness	2	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040282 - Frequent		93
HP:0001324	HP:0007340	Lower limb muscle weakness	2	KIF5A CL E G H	3798	6323	OMIM:604187	Spastic paraplegia 10, autosomal dominant	.		93
HP:0001324	HP:0001349	Facial diplegia	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		28
HP:0001324	HP:0001349	Facial diplegia	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0001349	Facial diplegia	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0001349	Facial diplegia	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0001349	Facial diplegia	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0003722	Neck flexor weakness	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		13
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		13
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	KLHL9 CL E G H	55958	18732	ORPHA:399081	KLHL9-related early-onset distal myopathy	HP:0040281 - Very frequent		3
HP:0001324	HP:0007340	Lower limb muscle weakness	2	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040282 - Frequent
HP:0001324	HP:0003484	Upper limb muscle weakness	2	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome			3
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent		3
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7			3
HP:0001324	HP:0007340	Lower limb muscle weakness	2	L1CAM CL E G H	3897	6470	ORPHA:306617	X-linked complicated spastic paraplegia type 1	HP:0040282 - Frequent		134
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	LAMA2 CL E G H	3908	6482	OMIM:607855	Muscular dystrophy, congenital, merosin deficient or partially deficient	.		411
HP:0001324	HP:0003391	Gowers sign	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0001324	HP:0003484	Upper limb muscle weakness	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0001324	HP:0003722	Neck flexor weakness	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		136
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001324	HP:0003484	Upper limb muscle weakness	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare		286
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare		286
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040282 - Frequent		286
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.		286
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.		286
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		1
HP:0001324	HP:0003484	Upper limb muscle weakness	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040282 - Frequent		7
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040282 - Frequent		7
HP:0001324	HP:0007340	Lower limb muscle weakness	2	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		645
HP:0001324	HP:0003484	Upper limb muscle weakness	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0001324	HP:0003484	Upper limb muscle weakness	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0001324	HP:0007340	Lower limb muscle weakness	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0001324	HP:0003484	Upper limb muscle weakness	2	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.		645
HP:0001324	HP:0007340	Lower limb muscle weakness	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.		645
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0001324	HP:0001349	Facial diplegia	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		11
HP:0001324	HP:0001349	Facial diplegia	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0001324	HP:0003722	Neck flexor weakness	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		11
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		11
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0001324	HP:0003484	Upper limb muscle weakness	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0007340	Lower limb muscle weakness	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0001324	HP:0003484	Upper limb muscle weakness	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		124
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		124
HP:0001324	HP:0003722	Neck flexor weakness	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		124
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.		102
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.		239
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		2
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome			140
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040283 - Occasional		140
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MARS1 CL E G H	4141	6898	OMIM:616280	Charcot-Marie-Tooth disease, axonal, type 2U	.
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21	.		80
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040282 - Frequent		80
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	MATR3 CL E G H	9782	6912	ORPHA:600	Vocal cord and pharyngeal distal myopathy	HP:0040283 - Occasional		80
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.		3
HP:0001324	HP:0006597	Diaphragmatic paralysis	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0001324	HP:0002601	Paresis of extensor muscles of the big toe	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent		203
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040281 - Very frequent		203
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent		203
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	HP:0040283 - Occasional		203
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MFN2 CL E G H	9927	16877	OMIM:617087	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B	.		203
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.		203
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040283 - Occasional		11
HP:0001324	HP:0003391	Gowers sign	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		3
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	MLIP CL E G H	90523	21355	OMIM:620138
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	MLIP CL E G H	90523	21355	OMIM:620138
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	MLIP CL E G H	90523	21355	OMIM:620138
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MME CL E G H	4311	7154	OMIM:617017	Charcot-Marie-Tooth disease, axonal, type 2T	.		18
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43			18
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040281 - Very frequent		18
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040282 - Frequent		18
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040281 - Very frequent		18
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040284 - Very rare		8
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040282 - Frequent		8
HP:0001324	HP:0006597	Diaphragmatic paralysis	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040284 - Very rare		8
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent		8
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z	.		8
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	.		56
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.		134
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MPZ CL E G H	4359	7225	OMIM:118200	Charcot-Marie-Tooth disease, demyelinating, type 1B	.		134
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.		134
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J			134
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0001324	HP:0001349	Facial diplegia	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MPZ CL E G H	4359	7225	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		134
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MRPS2 CL E G H	51116	14495	OMIM:617950	Combined oxidative phosphorylation deficiency 36
HP:0001324	HP:0003391	Gowers sign	2	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040281 - Very frequent		183
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		7
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0001324	HP:0001349	Facial diplegia	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0001324	HP:0001349	Facial diplegia	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0001324	HP:0003391	Gowers sign	2	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	.		72
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		72
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		72
HP:0001324	HP:0003722	Neck flexor weakness	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		72
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		19
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent		227
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	HP:0040282 - Frequent		227
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040283 - Occasional		1269
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040281 - Very frequent		1269
HP:0001324	HP:0003484	Upper limb muscle weakness	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent		1269
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent		1269
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0001324	HP:0030664	Beevor's sign	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage			1269
HP:0001324	HP:0003722	Neck flexor weakness	2	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage			1269
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	MYH7 CL E G H	4625	7577	OMIM:608358	Myopathy, myosin storage			1269
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		131
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001324	HP:0004661	Frontalis muscle weakness	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040281 - Very frequent		75
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040281 - Very frequent		75
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent		75
HP:0001324	HP:0012496	Reduced maximal inspiratory pressure	2	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040283 - Occasional		75
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040281 - Very frequent		75
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040283 - Occasional		75
HP:0001324	HP:0003722	Neck flexor weakness	2	MYOT CL E G H	9499	12399	OMIM:182920	Myopathy, spheroid body	.		75
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.		75
HP:0001324	HP:0003391	Gowers sign	2	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		217
HP:0001324	HP:0007340	Lower limb muscle weakness	2	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		217
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0001324	HP:0001349	Facial diplegia	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0001324	HP:0003391	Gowers sign	2	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	.		217
HP:0001324	HP:0007340	Lower limb muscle weakness	2	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D			82
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040283 - Occasional		82
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040281 - Very frequent		82
HP:0001324	HP:0001349	Facial diplegia	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0001324	HP:0003722	Neck flexor weakness	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040283 - Occasional		745
HP:0001324	HP:0001349	Facial diplegia	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		745
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001324	HP:0003722	Neck flexor weakness	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001324	HP:0003810	Late-onset distal muscle weakness	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001324	HP:0001349	Facial diplegia	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		745
HP:0001324	HP:0001349	Facial diplegia	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0001324	HP:0003722	Neck flexor weakness	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0001324	HP:0003484	Upper limb muscle weakness	2	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC			24
HP:0001324	HP:0007340	Lower limb muscle weakness	2	NEFH CL E G H	4744	7737	OMIM:616924	Charcot-Marie-Tooth disease, axonal, type 2CC			24
HP:0001324	HP:0003484	Upper limb muscle weakness	2	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040281 - Very frequent		118
HP:0001324	HP:0007340	Lower limb muscle weakness	2	NEFL CL E G H	4747	7739	ORPHA:99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	HP:0040281 - Very frequent		118
HP:0001324	HP:0003484	Upper limb muscle weakness	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0001324	HP:0007340	Lower limb muscle weakness	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F			118
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent		118
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent		118
HP:0001324	HP:0007340	Lower limb muscle weakness	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E	.		118
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0001324	HP:0003391	Gowers sign	2	NEFL CL E G H	4747	7739	OMIM:617882	Charcot-Marie-Tooth disease, dominant intermediate G	HP:0040284 - Very rare		118
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0001324	HP:0007340	Lower limb muscle weakness	2	NF1 CL E G H	4763	7765	OMIM:162210	Neurofibromatosis, familial spinal	.		1952
HP:0001324	HP:0003484	Upper limb muscle weakness	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0001324	HP:0007340	Lower limb muscle weakness	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0001324	HP:0003484	Upper limb muscle weakness	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0001324	HP:0007340	Lower limb muscle weakness	2	NIPA1 CL E G H	123606	17043	OMIM:600363	Spastic paraplegia 6, autosomal dominant	.		117
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0003484	Upper limb muscle weakness	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0007340	Lower limb muscle weakness	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040284 - Very rare
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001324	HP:0002601	Paresis of extensor muscles of the big toe	2	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040283 - Occasional		27
HP:0001324	HP:0003484	Upper limb muscle weakness	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		7
HP:0001324	HP:0007340	Lower limb muscle weakness	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		7
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.		19
HP:0001324	HP:0003391	Gowers sign	2	ORAI1 CL E G H	84876	25896	OMIM:612782	Immunodeficiency 9	.		19
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	ORAI1 CL E G H	84876	25896	OMIM:615883	Myopathy, tubular aggregate, 2	.		19
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy			19
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001324	HP:0003484	Upper limb muscle weakness	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PDK3 CL E G H	5165	8811	ORPHA:352675	X-linked Charcot-Marie-Tooth disease type 6	HP:0040281 - Very frequent		4
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0001324	HP:0001349	Facial diplegia	2	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		11
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PI4KA CL E G H	5297	8983	OMIM:619621	SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE; SPG84			11
HP:0001324	HP:0003484	Upper limb muscle weakness	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch			77
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0001324	HP:0003484	Upper limb muscle weakness	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0001324	HP:0003391	Gowers sign	2	PLEC CL E G H	5339	9069	OMIM:613723	Muscular dystrophy, limb-girdle, type 2Q	.		759
HP:0001324	HP:0003391	Gowers sign	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent		759
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040282 - Frequent		759
HP:0001324	HP:0430025	Bilateral facial palsy	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional		759
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17			759
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional		759
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040281 - Very frequent		759
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	PLEKHG5 CL E G H	57449	29105	OMIM:611067	Spinal muscular atrophy, distal, autosomal recessive, 4	.		186
HP:0001324	HP:0003484	Upper limb muscle weakness	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PLP1 CL E G H	5354	9086	OMIM:312920	Spastic paraplegia 2, X-linked	.		60
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy			79
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent		79
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	PMP22 CL E G H	5376	9118	OMIM:118300	Charcot-Marie-Tooth disease and deafness	.		79
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E			79
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent		79
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040281 - Very frequent		79
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	PMP22 CL E G H	5376	9118	OMIM:118220	Charcot-Marie-Tooth disease, demyelinating, type 1A	.		79
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PMP22 CL E G H	5376	9118	ORPHA:3115	Roussy-Lévy syndrome	HP:0040282 - Frequent		79
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4			244
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional		244
HP:0001324	HP:0003391	Gowers sign	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.		65
HP:0001324	HP:0003391	Gowers sign	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent		65
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040281 - Very frequent		65
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent		65
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040281 - Very frequent		65
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive			103
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive			103
HP:0001324	HP:0003391	Gowers sign	2	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.		3
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	POGLUT1 CL E G H	56983	22954	OMIM:617232	Muscular dystrophy, limb-girdle, type 2Z	.		6
HP:0001324	HP:0001349	Facial diplegia	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		464
HP:0001324	HP:0003722	Neck flexor weakness	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0001324	HP:0001349	Facial diplegia	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		45
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001324	HP:0003391	Gowers sign	2	POMGNT1 CL E G H	55624	19139	OMIM:613157	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3	.		180
HP:0001324	HP:0003391	Gowers sign	2	POMGNT2 CL E G H	84892	25902	OMIM:618135	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8	.		33
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0001324	HP:0003391	Gowers sign	2	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12	.		18
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		213
HP:0001324	HP:0001349	Facial diplegia	2	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040282 - Frequent		213
HP:0001324	HP:0003391	Gowers sign	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040282 - Frequent		213
HP:0001324	HP:0003484	Upper limb muscle weakness	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040282 - Frequent		221
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040282 - Frequent		221
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	POPDC3 CL E G H	64208	17649	OMIM:618848	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; LGMDR26
HP:0001324	HP:0003484	Upper limb muscle weakness	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040283 - Occasional		40
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0001324	HP:0002203	Respiratory paralysis	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040283 - Occasional		41
HP:0001324	HP:0003484	Upper limb muscle weakness	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent		41
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040281 - Very frequent		69
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		94
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		94
HP:0001324	HP:0007340	Lower limb muscle weakness	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional		166
HP:0001324	HP:0003391	Gowers sign	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8			5
HP:0001324	HP:0007340	Lower limb muscle weakness	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.		50
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040282 - Frequent		150
HP:0001324	HP:0003391	Gowers sign	2	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.		73
HP:0001324	HP:0003484	Upper limb muscle weakness	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		73
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		73
HP:0001324	HP:0003722	Neck flexor weakness	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		73
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0001324	HP:0007340	Lower limb muscle weakness	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional		88
HP:0001324	HP:0003484	Upper limb muscle weakness	2	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0001324	HP:0006597	Diaphragmatic paralysis	2	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	REEP1 CL E G H	65055	25786	ORPHA:101011	Autosomal dominant spastic paraplegia type 31	HP:0040281 - Very frequent		87
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent		87
HP:0001324	HP:0003484	Upper limb muscle weakness	2	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent		87
HP:0001324	HP:0007340	Lower limb muscle weakness	2	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5			87
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent		87
HP:0001324	HP:0007340	Lower limb muscle weakness	2	REEP1 CL E G H	65055	25786	OMIM:610250	Spastic paraplegia 31, autosomal dominant	.		87
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0001324	HP:0003722	Neck flexor weakness	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		3
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		3
HP:0001324	HP:0007340	Lower limb muscle weakness	2	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85			3
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0001324	HP:0003722	Neck flexor weakness	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		125
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040282 - Frequent		125
HP:0001324	HP:0001349	Facial diplegia	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		125
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		125
HP:0001324	HP:0007340	Lower limb muscle weakness	2	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent		25
HP:0001324	HP:0007340	Lower limb muscle weakness	2	RTN2 CL E G H	6253	10468	OMIM:604805	Spastic paraplegia 12, autosomal dominant	.		25
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0001324	HP:0003484	Upper limb muscle weakness	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001324	HP:0001349	Facial diplegia	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0001324	HP:0003391	Gowers sign	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040284 - Very rare		1200
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent		1200
HP:0001324	HP:0001349	Facial diplegia	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040284 - Very rare		1200
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement	HP:0040282 - Frequent		1200
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040283 - Occasional		309
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SBF2 CL E G H	81846	2135	OMIM:604563	Charcot-Marie-Tooth disease, type 4B2	.		180
HP:0001324	HP:0003392	First dorsal interossei muscle weakness	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		1053
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040283 - Occasional		1053
HP:0001324	HP:0003752	Episodic flaccid weakness	2	SCN4A CL E G H	6329	10591	OMIM:170500	Hyperkalemic periodic paralysis	.		263
HP:0001324	HP:0003752	Episodic flaccid weakness	2	SCN4A CL E G H	6329	10591	ORPHA:682	Hyperkalemic periodic paralysis	HP:0040281 - Very frequent		263
HP:0001324	HP:0002203	Respiratory paralysis	2	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare		263
HP:0001324	HP:0003694	Late-onset proximal muscle weakness	2	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040283 - Occasional		263
HP:0001324	HP:0003752	Episodic flaccid weakness	2	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040281 - Very frequent		263
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	SCN4A CL E G H	6329	10591	ORPHA:681	Hypokalemic periodic paralysis	HP:0040284 - Very rare		263
HP:0001324	HP:0003752	Episodic flaccid weakness	2	SCN4A CL E G H	6329	10591	OMIM:170400	Hypokalemic periodic paralysis, type 1	.		263
HP:0001324	HP:0003752	Episodic flaccid weakness	2	SCN4A CL E G H	6329	10591	OMIM:613345	Hypokalemic periodic paralysis, type 2	.		263
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		263
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		263
HP:0001324	HP:0003722	Neck flexor weakness	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		263
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0001324	HP:0001349	Facial diplegia	2	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent		40
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent		40
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	HP:0040282 - Frequent		40
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040282 - Frequent
HP:0001324	HP:0003391	Gowers sign	2	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		144
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0001324	HP:0003722	Neck flexor weakness	2	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1			144
HP:0001324	HP:0003391	Gowers sign	2	SELENON CL E G H	57190	15999	ORPHA:97244	Rigid spine syndrome	HP:0040283 - Occasional		144
HP:0001324	HP:0003391	Gowers sign	2	SGCA CL E G H	6442	10805	ORPHA:62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	HP:0040282 - Frequent		132
HP:0001324	HP:0003391	Gowers sign	2	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0001324	HP:0003391	Gowers sign	2	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent		113
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent		113
HP:0001324	HP:0003391	Gowers sign	2	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.		223
HP:0001324	HP:0003391	Gowers sign	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040283 - Occasional		83
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent		83
HP:0001324	HP:0003722	Neck flexor weakness	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040283 - Occasional		83
HP:0001324	HP:0003391	Gowers sign	2	SGCG CL E G H	6445	10809	OMIM:253700	Muscular dystrophy, limb-girdle, type 2C	.		83
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040282 - Frequent		493
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.		493
HP:0001324	HP:0001349	Facial diplegia	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001324	HP:0003722	Neck flexor weakness	2	SIGMAR1 CL E G H	10280	8157	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		6
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SIGMAR1 CL E G H	10280	8157	OMIM:605726	Spinal muscular atrophy, distal, autosomal recessive, 2	.		6
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0001349	Facial diplegia	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0004661	Frontalis muscle weakness	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001324	HP:0004661	Frontalis muscle weakness	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		28
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0001324	HP:0001349	Facial diplegia	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		68
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	.		68
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040282 - Frequent		48
HP:0001324	HP:0001349	Facial diplegia	2	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood	.		51
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001324	HP:0004661	Frontalis muscle weakness	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		9
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0001324	HP:0030664	Beevor's sign	2	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2			174
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.		22
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SMN1 CL E G H	6606	11117	OMIM:253400	Spinal muscular atrophy, type III			22
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SMN2 CL E G H	6607	11118	OMIM:253400	Spinal muscular atrophy, type III			1
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0004661	Frontalis muscle weakness	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0001324	HP:0001349	Facial diplegia	2	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040282 - Frequent		66
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SPART CL E G H	23111	18514	OMIM:275900	Spastic paraplegia 20, autosomal recessive	.		66
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SPAST CL E G H	6683	11233	ORPHA:100985	Autosomal dominant spastic paraplegia type 4	HP:0040282 - Frequent		208
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SPAST CL E G H	6683	11233	OMIM:182601	Spastic paraplegia 4, autosomal dominant	.		208
HP:0001324	HP:0001349	Facial diplegia	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0001324	HP:0003391	Gowers sign	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		20
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SPG11 CL E G H	80208	11226	OMIM:602099	Amyotrophic lateral sclerosis 5, juvenile	.		287
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040281 - Very frequent		287
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SPG11 CL E G H	80208	11226	OMIM:616668	Charcot-Marie-Tooth disease, axonal, type 2X	.		287
HP:0001324	HP:0003722	Neck flexor weakness	2	SPG11 CL E G H	80208	11226	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		287
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.		287
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SPG21 CL E G H	51324	20373	ORPHA:101001	Autosomal recessive spastic paraplegia type 21	HP:0040282 - Frequent		28
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SPG21 CL E G H	51324	20373	OMIM:248900	Mast syndrome	.		28
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive			171
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040283 - Occasional		171
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent		171
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		54
HP:0001324	HP:0003722	Neck flexor weakness	2	SPTLC1 CL E G H	10558	11277	ORPHA:300605	Juvenile amyotrophic lateral sclerosis	HP:0040283 - Occasional		54
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040282 - Frequent		149
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent		62
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SQSTM1 CL E G H	8878	11280	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent		62
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV			62
HP:0001324	HP:0001349	Facial diplegia	2	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional		50
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy			31
HP:0001324	HP:0001349	Facial diplegia	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.		66
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0001324	HP:0012799	Unilateral facial palsy	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0001324	HP:0003391	Gowers sign	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		1129
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		1129
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		1129
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040282 - Frequent		1129
HP:0001324	HP:0003391	Gowers sign	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001324	HP:0430025	Bilateral facial palsy	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		508
HP:0001324	HP:0003484	Upper limb muscle weakness	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		508
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		508
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	SYT2 CL E G H	127833	11510	OMIM:616040	Myasthenic syndrome, congenital, 7, presynaptic			4
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001324	HP:0004661	Frontalis muscle weakness	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		4
HP:0001324	HP:0007340	Lower limb muscle weakness	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0003391	Gowers sign	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TARDBP CL E G H	23435	11571	OMIM:612069	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	.		65
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TBCE CL E G H	6905	11582	ORPHA:496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	HP:0040282 - Frequent		52
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TBCE CL E G H	6905	11582	OMIM:617207	ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO			52
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0001324	HP:0003484	Upper limb muscle weakness	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G			78
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G			78
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.		78
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.		78
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.		78
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.		78
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1			52
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent		52
HP:0001324	HP:0003484	Upper limb muscle weakness	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0001324	HP:0003484	Upper limb muscle weakness	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent		18
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent		18
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type			18
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent		5
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TIA1 CL E G H	7072	11802	ORPHA:603	Distal myopathy, Welander type	HP:0040281 - Very frequent		5
HP:0001324	HP:0001349	Facial diplegia	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0001324	HP:0003391	Gowers sign	2	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.		103
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040282 - Frequent		103
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		171
HP:0001324	HP:0003484	Upper limb muscle weakness	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		171
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		171
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TNNT1 CL E G H	7138	11948	ORPHA:98902	Amish nemaline myopathy	HP:0040283 - Occasional		37
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	HP:0040283 - Occasional		71
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.		71
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.		71
HP:0001324	HP:0003810	Late-onset distal muscle weakness	2	TNPO3 CL E G H	23534	17103	OMIM:608423	Muscular dystrophy, limb-girdle, autosomal dominant 2	.		71
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	TNR CL E G H	7143	11953	OMIM:619653	NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO			7
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent		6
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001324	HP:0006597	Diaphragmatic paralysis	2	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency	HP:0040282 - Frequent		28
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0001324	HP:0003391	Gowers sign	2	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0001324	HP:0001349	Facial diplegia	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0001324	HP:0001349	Facial diplegia	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0001324	HP:0003391	Gowers sign	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.		54
HP:0001324	HP:0001349	Facial diplegia	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0003722	Neck flexor weakness	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0001324	HP:0003391	Gowers sign	2	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0001324	HP:0001349	Facial diplegia	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent		108
HP:0001324	HP:0001349	Facial diplegia	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0001324	HP:0001349	Facial diplegia	2	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1			108
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0001324	HP:0003484	Upper limb muscle weakness	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040282 - Frequent		27
HP:0001324	HP:0003391	Gowers sign	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	.		27
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0001324	HP:0003391	Gowers sign	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0001324	HP:0003722	Neck flexor weakness	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H			108
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8	HP:0040281 - Very frequent		108
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040281 - Very frequent		4
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRIP4 CL E G H	9325	12310	OMIM:617066	Muscular dystrophy, congenital, Davignon-Chauveau type	.		4
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040283 - Occasional
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus	HP:0040282 - Frequent
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040282 - Frequent
HP:0001324	HP:0003484	Upper limb muscle weakness	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC	.		214
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001324	HP:0003391	Gowers sign	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0001324	HP:0009063	Progressive distal muscle weakness	2	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0001324	HP:0001349	Facial diplegia	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0001324	HP:0003391	Gowers sign	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040282 - Frequent		7128
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent		7128
HP:0001324	HP:0003722	Neck flexor weakness	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent		7128
HP:0001324	HP:0007340	Lower limb muscle weakness	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040282 - Frequent		7128
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure	.		7128
HP:0001324	HP:0003722	Neck flexor weakness	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040284 - Very rare		7128
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040283 - Occasional		7128
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040282 - Frequent		7128
HP:0001324	HP:0001349	Facial diplegia	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		113
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		138
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0001324	HP:0007340	Lower limb muscle weakness	2	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040281 - Very frequent
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0001324	HP:0003391	Gowers sign	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001324	HP:0030197	Fatigable weakness of skeletal muscles	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0004661	Frontalis muscle weakness	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0007340	Lower limb muscle weakness	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0001324	HP:0001349	Facial diplegia	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040283 - Occasional		63
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation	HP:0040282 - Frequent		63
HP:0001324	HP:0030192	Fatigable weakness of bulbar muscles	2	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0001324	HP:0030196	Fatigable weakness of respiratory muscles	2	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0001324	HP:0003484	Upper limb muscle weakness	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0001324	HP:0007340	Lower limb muscle weakness	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0001324	HP:0003484	Upper limb muscle weakness	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0001324	HP:0007340	Lower limb muscle weakness	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y			63
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent		63
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040282 - Frequent		63
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0001324	HP:0003547	Shoulder girdle muscle weakness	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0001324	HP:0003749	Pelvic girdle muscle weakness	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	.		63
HP:0001324	HP:0009073	Progressive proximal muscle weakness	2	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0001324	HP:0003484	Upper limb muscle weakness	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0001324	HP:0007340	Lower limb muscle weakness	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0001324	HP:0003391	Gowers sign	2	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.		10
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	VMA21 CL E G H	203547	22082	OMIM:310440	Myopathy, X-linked, with excessive autophagy	.		10
HP:0001324	HP:0003484	Upper limb muscle weakness	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0007340	Lower limb muscle weakness	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0008959	Distal upper limb muscle weakness	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0008994	Proximal muscle weakness in lower limbs	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0009027	Foot dorsiflexor weakness	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0009053	Distal lower limb muscle weakness	2	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0007340	Lower limb muscle weakness	2	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent		83
HP:0001324	HP:0007340	Lower limb muscle weakness	2	WASHC5 CL E G H	9897	28984	OMIM:603563	Spastic paraplegia 8, autosomal dominant	.		83
HP:0001324	HP:0012799	Unilateral facial palsy	2	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U			125
HP:0001324	HP:0003484	Upper limb muscle weakness	2	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C	.
HP:0001324	HP:0002747	Respiratory insufficiency due to muscle weakness	2	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	.		45
HP:0001324	HP:0001349	Facial diplegia	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0001324	HP:0001349	Facial diplegia	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0001324	HP:0003484	Upper limb muscle weakness	2	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040282 - Frequent		189
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0001324	HP:0007340	Lower limb muscle weakness	2	ZFYVE27 CL E G H	118813	26559	OMIM:610244	Spastic paraplegia 33, autosomal dominant	.		52
HP:0001324	HP:0030193	Fatigable weakness of chewing muscles	3	CL E G H
HP:0001324	HP:0033416	Hip adductor weakness	3	CL E G H
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040281 - Very frequent		135
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		197
HP:0001324	HP:0031189	Wrist drop	3	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal	.		96
HP:0001324	HP:0030198	Fatigable weakness of distal limb muscles	3	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		96
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0031108	Triceps weakness	3	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0001324	HP:0012515	Hip flexor weakness	3	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0001324	HP:0031108	Triceps weakness	3	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		127
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0001324	HP:0012515	Hip flexor weakness	3	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		1
HP:0001324	HP:0031108	Triceps weakness	3	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		32
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040282 - Frequent		304
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040281 - Very frequent		304
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040283 - Occasional		304
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	ANO5 CL E G H	203859	27337	ORPHA:399096	Distal anoctaminopathy	HP:0040281 - Very frequent		304
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	ATL1 CL E G H	51062	11231	ORPHA:100984	Autosomal dominant spastic paraplegia type 3	HP:0040281 - Very frequent		71
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040282 - Frequent
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	BICD2 CL E G H	23299	17208	OMIM:615290	Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant			46
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	BSCL2 CL E G H	26580	15832	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent		105
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	BSCL2 CL E G H	26580	15832	OMIM:619112	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C			105
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		56
HP:0001324	HP:0031189	Wrist drop	3	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF			1
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	CASQ1 CL E G H	844	1512	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		5
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030198	Fatigable weakness of distal limb muscles	3	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		35
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		65
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		65
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		11
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040283 - Occasional		11
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent		11
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040283 - Occasional		11
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	CHCHD10 CL E G H	400916	15559	ORPHA:276435	Lower motor neuron syndrome with late-adult onset	HP:0040281 - Very frequent		11
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		42
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	CHRNA1 CL E G H	1134	1955	OMIM:601462	Myasthenic syndrome, congenital, 1A, slow-channel	.		74
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0001324	HP:0012515	Hip flexor weakness	3	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		74
HP:0001324	HP:0031108	Triceps weakness	3	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0001324	HP:0012515	Hip flexor weakness	3	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		53
HP:0001324	HP:0031108	Triceps weakness	3	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0001324	HP:0012515	Hip flexor weakness	3	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		88
HP:0001324	HP:0031108	Triceps weakness	3	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0001324	HP:0012515	Hip flexor weakness	3	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		139
HP:0001324	HP:0031108	Triceps weakness	3	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	COL12A1 CL E G H	1303	2188	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		65
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0001324	HP:0012515	Hip flexor weakness	3	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0001324	HP:0031108	Triceps weakness	3	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		6
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001324	HP:0007188	Congenital facial diplegia	3	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	COL6A1 CL E G H	1291	2211	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		442
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	COL6A2 CL E G H	1292	2212	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		478
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	COL6A3 CL E G H	1293	2213	ORPHA:610	Bethlem myopathy	HP:0040282 - Frequent		702
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040282 - Frequent		72
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040282 - Frequent		1
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	CRPPA CL E G H	729920	37276	ORPHA:352479	ISPD-related limb-girdle muscular dystrophy R20	HP:0040282 - Frequent
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		86
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive			29
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040281 - Very frequent		263
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	DHTKD1 CL E G H	55526	23537	OMIM:615025	Charcot-Marie-Tooth disease, axonal, type 2Q			12
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant			167
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0001324	HP:0012515	Hip flexor weakness	3	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		91
HP:0001324	HP:0031108	Triceps weakness	3	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0001324	HP:0008963	Tibialis muscle weakness	3	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040282 - Frequent		600
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset			600
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional		600
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent		600
HP:0001324	HP:0008963	Tibialis muscle weakness	3	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent		600
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy			600
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent		600
HP:0001324	HP:0031108	Triceps weakness	3	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional		600
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		107
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	EMILIN1 CL E G H	11117	19880	OMIM:620080				2
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		15
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	FBLN5 CL E G H	10516	3602	OMIM:619764	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H; CMT1H			63
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID			1
HP:0001324	HP:0031108	Triceps weakness	3	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID	.		1
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	FGD4 CL E G H	121512	19125	OMIM:609311	Charcot-marie-tooth disease, type 4H			158
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		68
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		111
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040282 - Frequent		197
HP:0001324	HP:0012515	Hip flexor weakness	3	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040282 - Frequent		197
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040283 - Occasional		197
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		105
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	GARS1 CL E G H	2617	4162	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0011727	Peroneal muscle weakness	3	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A			108
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	GDAP1 CL E G H	54332	15968	OMIM:607706	Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomalrecessive			108
HP:0001324	HP:0008963	Tibialis muscle weakness	3	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040284 - Very rare
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1			107
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		45
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001324	HP:0008963	Tibialis muscle weakness	3	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent		173
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0001324	HP:0012515	Hip flexor weakness	3	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040282 - Frequent		173
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	GNE CL E G H	10020	23657	OMIM:605820	Nonaka myopathy			173
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2			18
HP:0001324	HP:0011727	Peroneal muscle weakness	3	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2			18
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040281 - Very frequent
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040281 - Very frequent		12
HP:0001324	HP:0030198	Fatigable weakness of distal limb muscles	3	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040282 - Frequent		12
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G	HP:0040281 - Very frequent		11
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	HSPB1 CL E G H	3315	5246	OMIM:608634	Neuronopathy, distal hereditary motor, type IIB	.		47
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	HSPB3 CL E G H	8988	5248	OMIM:613376	Neuronopathy, distal hereditary motor, type IIC	.		13
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	HSPB8 CL E G H	26353	30171	OMIM:158590	Neuronopathy, distal hereditary motor, type IIA	.		38
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent		16
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0031108	Triceps weakness	3	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent		4
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	KIF1A CL E G H	547	888	OMIM:614213	Neuropathy, hereditary sensory, type IIC			276
HP:0001324	HP:0030198	Fatigable weakness of distal limb muscles	3	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		13
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	KY CL E G H	339855	26576	ORPHA:496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	HP:0040282 - Frequent		3
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	LAMA2 CL E G H	3908	6482	OMIM:618138	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23			411
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare		286
HP:0001324	HP:0030198	Fatigable weakness of distal limb muscles	3	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040282 - Frequent		286
HP:0001324	HP:0031189	Wrist drop	3	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040283 - Occasional		286
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040282 - Frequent		7
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1			645
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0001324	HP:0011727	Peroneal muscle weakness	3	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0001324	HP:0030198	Fatigable weakness of distal limb muscles	3	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		11
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria			95
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0001324	HP:0012515	Hip flexor weakness	3	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		124
HP:0001324	HP:0031108	Triceps weakness	3	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040283 - Occasional		140
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		80
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MATR3 CL E G H	9782	6912	OMIM:606070	Amyotrophic lateral sclerosis 21			80
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040282 - Frequent		203
HP:0001324	HP:0031108	Triceps weakness	3	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040281 - Very frequent		18
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040281 - Very frequent		8
HP:0001324	HP:0031189	Wrist drop	3	MORC2 CL E G H	22880	23573	OMIM:616688	Charcot-Marie-Tooth disease, axonal, type 2Z			8
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant			7
HP:0001324	HP:0008963	Tibialis muscle weakness	3	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0001324	HP:0012515	Hip flexor weakness	3	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		72
HP:0001324	HP:0031108	Triceps weakness	3	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		1269
HP:0001324	HP:0008963	Tibialis muscle weakness	3	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent		1269
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0001324	HP:0031108	Triceps weakness	3	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional
HP:0001324	HP:0012515	Hip flexor weakness	3	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A	HP:0040282 - Frequent		75
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		217
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	NDRG1 CL E G H	10397	7679	ORPHA:99950	Charcot-Marie-Tooth disease type 4D	HP:0040281 - Very frequent		82
HP:0001324	HP:0030198	Fatigable weakness of distal limb muscles	3	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		745
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		24
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional		118
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040282 - Frequent		118
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E			118
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		101
HP:0001324	HP:0031189	Wrist drop	3	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0001324	HP:0030194	Fatigable weakness of speech muscles	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0001324	HP:0008963	Tibialis muscle weakness	3	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040284 - Very rare
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	ORAI1 CL E G H	84876	25896	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		19
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		6
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	PHKA1 CL E G H	5255	8925	OMIM:300559	Muscle glycogenosis, X-linked			54
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17	HP:0040283 - Occasional		759
HP:0001324	HP:0031189	Wrist drop	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare		105
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	PMP2 CL E G H	5375	9117	OMIM:618279	Charcot-Marie-Tooth disease, demyelinating, type 1G			1
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent		79
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040281 - Very frequent		79
HP:0001324	HP:0011727	Peroneal muscle weakness	3	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent		79
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional		244
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	PNPLA6 CL E G H	10908	16268	OMIM:612020	Spastic paraplegia 39, autosomal recessive			103
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		45
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0001324	HP:0031108	Triceps weakness	3	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		4
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		2
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040282 - Frequent		41
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		25
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B			50
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0001324	HP:0012515	Hip flexor weakness	3	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		73
HP:0001324	HP:0031108	Triceps weakness	3	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0001324	HP:0031189	Wrist drop	3	REEP1 CL E G H	65055	25786	OMIM:620011				87
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	REEP1 CL E G H	65055	25786	ORPHA:139536	Distal hereditary motor neuropathy type 5	HP:0040282 - Frequent		87
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		125
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0001324	HP:0011727	Peroneal muscle weakness	3	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SBF1 CL E G H	6305	10542	OMIM:615284	Charcot-Marie-Tooth disease, type 4B3			16
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2			180
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0001324	HP:0012515	Hip flexor weakness	3	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0001324	HP:0030199	Fatigable weakness of neck muscles	3	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		263
HP:0001324	HP:0031108	Triceps weakness	3	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent		5
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SECISBP2 CL E G H	79048	30972	ORPHA:171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency			3
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		144
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SLC12A6 CL E G H	9990	10914	OMIM:620068				163
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		28
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		28
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		68
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		9
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		9
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		53
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SORD CL E G H	6652	11184	OMIM:618912	SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY; SORDD
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC			149
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		62
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	STIM1 CL E G H	6786	11386	ORPHA:2593	Tubular aggregate myopathy	HP:0040281 - Very frequent		31
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		1129
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		508
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		4
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		4
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		65
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.		78
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	TCAP CL E G H	8557	11610	OMIM:601954	Muscular dystrophy, limb-girdle, type 2G	.		78
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent		52
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	TFG CL E G H	10342	11758	ORPHA:90117	Hereditary motor and sensory neuropathy, Okinawa type	HP:0040281 - Very frequent		18
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		171
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0030198	Fatigable weakness of distal limb muscles	3	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040282 - Frequent		54
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		108
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1	.		108
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		31
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H	.		108
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	TRPV4 CL E G H	59341	18083	OMIM:606071	Hereditary motor and sensory neuropathy, type IIC			214
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy			214
HP:0001324	HP:0011727	Peroneal muscle weakness	3	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040282 - Frequent		7128
HP:0001324	HP:0008963	Tibialis muscle weakness	3	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040283 - Occasional		7128
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure			7128
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	TTN CL E G H	7273	12403	OMIM:603689	Myopathy, myofibrillar, 9, with early respiratory failure			7128
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	TTN CL E G H	7273	12403	ORPHA:609	Tibial muscular dystrophy	HP:0040283 - Occasional		7128
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent		113
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		20
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		1
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0001324	HP:0030200	Fatiguable weakness of proximal limb muscles	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0001324	HP:0004889	Intermittent episodes of respiratory insufficiency due to muscle weakness	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040281 - Very frequent		2
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		2
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		116
HP:0001324	HP:0030195	Fatigable weakness of swallowing muscles	3	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent		63
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	VCP CL E G H	7415	12666	OMIM:613954	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia			63
HP:0001324	HP:0003731	Quadriceps muscle weakness	3	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	VCP CL E G H	7415	12666	ORPHA:435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	HP:0040283 - Occasional		63
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0001324	HP:0008997	Proximal muscle weakness in upper limbs	3	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0009053	Distal lower limb muscle weakness	3	VWA1 CL E G H	64856	30910	OMIM:619216	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES; HMNMYO
HP:0001324	HP:0007188	Congenital facial diplegia	3	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0001324	HP:0031108	Triceps weakness	4	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0001324	HP:0031108	Triceps weakness	4	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0001324	HP:0031108	Triceps weakness	4	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0001324	HP:0031108	Triceps weakness	4	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0001324	HP:0031108	Triceps weakness	4	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0001324	HP:0031108	Triceps weakness	4	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0001324	HP:0031108	Triceps weakness	4	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0001324	HP:0031108	Triceps weakness	4	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0001324	HP:0031108	Triceps weakness	4	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0001324	HP:0008963	Tibialis muscle weakness	4	DYSF CL E G H	8291	3097	ORPHA:178400	Distal myopathy with anterior tibial onset	HP:0040282 - Frequent		600
HP:0001324	HP:0008963	Tibialis muscle weakness	4	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040282 - Frequent		600
HP:0001324	HP:0031108	Triceps weakness	4	DYSF CL E G H	8291	3097	ORPHA:45448	Miyoshi myopathy	HP:0040283 - Occasional		600
HP:0001324	HP:0031108	Triceps weakness	4	FBXO38 CL E G H	81545	28844	OMIM:615575	Neuronopathy, distal hereditary motor, type IID	.		1
HP:0001324	HP:0011727	Peroneal muscle weakness	4	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness			108
HP:0001324	HP:0008963	Tibialis muscle weakness	4	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0008963	Tibialis muscle weakness	4	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040281 - Very frequent		173
HP:0001324	HP:0011727	Peroneal muscle weakness	4	GYG1 CL E G H	2992	4699	OMIM:616199	Polyglucosan body myopathy 2			18
HP:0001324	HP:0031108	Triceps weakness	4	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001324	HP:0011727	Peroneal muscle weakness	4	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0001324	HP:0031108	Triceps weakness	4	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0001324	HP:0031108	Triceps weakness	4	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional		203
HP:0001324	HP:0008963	Tibialis muscle weakness	4	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0001324	HP:0031108	Triceps weakness	4	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0001324	HP:0008963	Tibialis muscle weakness	4	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040281 - Very frequent		1269
HP:0001324	HP:0031108	Triceps weakness	4	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0001324	HP:0008963	Tibialis muscle weakness	4	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040283 - Occasional
HP:0001324	HP:0011727	Peroneal muscle weakness	4	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040282 - Frequent		79
HP:0001324	HP:0031108	Triceps weakness	4	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0001324	HP:0031108	Triceps weakness	4	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0001324	HP:0011727	Peroneal muscle weakness	4	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0001324	HP:0031108	Triceps weakness	4	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0001324	HP:0011727	Peroneal muscle weakness	4	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy	.		214
HP:0001324	HP:0008963	Tibialis muscle weakness	4	TTN CL E G H	7273	12403	ORPHA:178464	Hereditary myopathy with early respiratory failure	HP:0040283 - Occasional		7128