Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy		135
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of		90
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia		25
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia		25
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8		127
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile		114
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile		114
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9		21
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia		164
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant		164
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		49
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		48
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive		48
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		41
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia		18
HP:0000301	HP:0000301	Abnormality of facial musculature	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive		18
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78		100
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood		239
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood		150
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism		150
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0000301	HP:0000301	Abnormality of facial musculature	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0000301	HP:0000301	Abnormality of facial musculature	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0000301	HP:0000301	Abnormality of facial musculature	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0000301	HP:0000301	Abnormality of facial musculature	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0000301	HP:0000301	Abnormality of facial musculature	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood		449
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40		16
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type		53
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel		88
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency		88
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel		139
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis		102
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7		9
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome		65
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0000301	HP:0000301	Abnormality of facial musculature	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0000301	HP:0000301	Abnormality of facial musculature	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy		263
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita		9
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6		41
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form		94
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DNMT3B CL E G H	1789	2979	OMIM:619478	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4		79
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2		13
HP:0000301	HP:0000301	Abnormality of facial musculature	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0000301	HP:0000301	Abnormality of facial musculature	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000301	HP:0000301	Abnormality of facial musculature	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000301	HP:0000301	Abnormality of facial musculature	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome		135
HP:0000301	HP:0000301	Abnormality of facial musculature	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000301	HP:0000301	Abnormality of facial musculature	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0000301	HP:0000301	Abnormality of facial musculature	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0000301	HP:0000301	Abnormality of facial musculature	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0000301	HP:0000301	Abnormality of facial musculature	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0000301	HP:0000301	Abnormality of facial musculature	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0000301	HP:0000301	Abnormality of facial musculature	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0000301	HP:0000301	Abnormality of facial musculature	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement		197
HP:0000301	HP:0000301	Abnormality of facial musculature	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0000301	HP:0000301	Abnormality of facial musculature	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset		407
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy		121
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1		128
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia		68
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive		68
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0000301	HP:0000301	Abnormality of facial musculature	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0000301	HP:0000301	Abnormality of facial musculature	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0000301	HP:0000301	Abnormality of facial musculature	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0000301	HP:0000301	Abnormality of facial musculature	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0000301	HP:0000301	Abnormality of facial musculature	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus		99
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita		124
HP:0000301	HP:0000301	Abnormality of facial musculature	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type		81
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0000301	HP:0000301	Abnormality of facial musculature	0	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10		11
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy		11
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LPIN1 CL E G H	23175	13345	ORPHA:99845	Genetic recurrent myoglobinuria		95
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LRIF1 CL E G H	55791	30299	OMIM:619477	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC; FSHD3
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		124
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis		124
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LRP4 CL E G H	4038	6696	OMIM:614305	Sclerosteosis 2		124
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type		125
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata		125
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome		125
HP:0000301	HP:0000301	Abnormality of facial musculature	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13		950
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset		158
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2		134
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus		12
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy		185
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MTMR2 CL E G H	8898	7450	OMIM:601382	Charcot-Marie-Tooth disease, type 4B1		88
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MUSK CL E G H	4593	7525	OMIM:616325	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency		72
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		72
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy		1269
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1269
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1		1269
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYH7 CL E G H	4625	7577	OMIM:181430	Scapuloperoneal myopathy, myh7-related		1269
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12		131
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome		5
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome		5
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYOT CL E G H	9499	12399	ORPHA:266	Autosomal dominant limb-girdle muscular dystrophy type 1A		75
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy		217
HP:0000301	HP:0000301	Abnormality of facial musculature	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive		217
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24		34
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy		745
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy		745
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy		745
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus		4
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F		118
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NEFL CL E G H	4747	7739	OMIM:607684	Charcot-Marie-Tooth disease, axonal, type 2E		118
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma		220
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome		32
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation		32
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome		187
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000301	HP:0000301	Abnormality of facial musculature	0	NUTM2B-AS1 CL E G H	101060691	51204	OMIM:618637	OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0000301	HP:0000301	Abnormality of facial musculature	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form		214
HP:0000301	HP:0000301	Abnormality of facial musculature	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy		10
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma		9
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease		169
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease		75
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease		4
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease		65
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease		66
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease		46
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease		59
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease		62
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease		82
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease		106
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease		47
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease		99
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease		98
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma		162
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism		133
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita		759
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PLEC CL E G H	5339	9069	ORPHA:254361	Plectin-related limb-girdle muscular dystrophy R17		759
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		45
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2		221
HP:0000301	HP:0000301	Abnormality of facial musculature	0	POU3F3 CL E G H	5455	9216	OMIM:618604	SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36		13
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome		13
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PPP2R2B CL E G H	5521	9305	OMIM:604326	Spinocerebellar ataxia 12		5
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PRKCG CL E G H	5582	9402	OMIM:605361	Spinocerebellar ataxia 14		83
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0000301	HP:0000301	Abnormality of facial musculature	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation		53
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		73
HP:0000301	HP:0000301	Abnormality of facial musculature	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		3
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy		125
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy		1200
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RYR1 CL E G H	6261	10483	OMIM:117000	Central core disease		1200
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia		1200
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RYR1 CL E G H	6261	10483	ORPHA:178145	Moderate multiminicore disease with hand involvement		1200
HP:0000301	HP:0000301	Abnormality of facial musculature	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		1200
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SBF2 CL E G H	81846	2135	ORPHA:99956	Charcot-Marie-Tooth disease type 4B2		180
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans		263
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SCN4A CL E G H	6329	10591	ORPHA:684	Paramyotonia congenita of Von Eulenburg		263
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		263
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SCO2 CL E G H	9997	10604	ORPHA:521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect		40
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy		144
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		144
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SELENON CL E G H	57190	15999	OMIM:602771	Rigid spine muscular dystrophy 1		144
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SET CL E G H	6418	10760	OMIM:618106	Mental retardation, autosomal dominant 58		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SGCD CL E G H	6444	10807	ORPHA:219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6		223
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C		493
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C		493
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome		50
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy		163
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC18A3 CL E G H	6572	10936	OMIM:617239	Myasthenic syndrome, congenital, 21, presynaptic		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC19A3 CL E G H	80704	16266	OMIM:607483	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)		110
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood		63
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes		28
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC25A21 CL E G H	89874	14411	OMIM:618811	MITOCHONDRIAL DNA DEPLETION SYNDROME 18; MTDPS18
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		68
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC25A42 CL E G H	284439	28380	OMIM:618416	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome		5
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2		47
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC52A3 CL E G H	113278	16187	OMIM:211500	Bulbar palsy, progressive, of childhood		51
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC5A7 CL E G H	60482	14025	OMIM:617143	Myasthenic syndrome, congenital, 20, presynaptic		9
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes		9
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism		13
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma		87
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma		47
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SMCHD1 CL E G H	23347	29090	OMIM:158901	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2; FSHD2		174
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma		22
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant		26
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata		26
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis		26
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy		20
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5		20
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency		28
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5		126
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SQSTM1 CL E G H	8878	11280	OMIM:617158	MYOPATHY, DISTAL, WITH RIMMED VACUOLES; DMRV		62
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0000301	HP:0000301	Abnormality of facial musculature	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome		1
HP:0000301	HP:0000301	Abnormality of facial musculature	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome		6
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma		124
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type		1129
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita		1129
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism		9
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0000301	HP:0000301	Abnormality of facial musculature	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes		4
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation		39
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma		238
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form		103
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TOR1A CL E G H	1861	3098	OMIM:128100	Dystonia 1, torsion, autosomal dominant		47
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus		140
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy		54
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		54
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy		54
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy		108
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		108
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TPM3 CL E G H	7170	12012	OMIM:609284	Nemaline myopathy 1		108
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations		56
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TRIM32 CL E G H	22954	16380	OMIM:254110	Muscular dystrophy, limb-girdle, type 2H		108
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TRNE CL E G H	4556	7479	ORPHA:2596	Myopathy and diabetes mellitus
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TRPV4 CL E G H	59341	18083	OMIM:181405	Scapuloperoneal spinal muscular atrophy		214
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy		7128
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy		7128
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement		64
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TUBB6 CL E G H	84617	20776	OMIM:617732	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0000301	HP:0000301	Abnormality of facial musculature	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000301	HP:0000301	Abnormality of facial musculature	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0000301	HP:0000301	Abnormality of facial musculature	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0000301	HP:0000301	Abnormality of facial musculature	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0000301	HP:0000301	Abnormality of facial musculature	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0000301	HP:0000301	Abnormality of facial musculature	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	VCP CL E G H	7415	12666	ORPHA:329478	Adult-onset distal myopathy due to VCP mutation		63
HP:0000301	HP:0000301	Abnormality of facial musculature	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:0000301	HP:0000301	Abnormality of facial musculature	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome		546
HP:0000301	HP:0000301	Abnormality of facial musculature	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0000301	HP:0000301	Abnormality of facial musculature	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U		125
HP:0000301	HP:0000301	Abnormality of facial musculature	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome		5
HP:0000301	HP:0000301	Abnormality of facial musculature	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11		2
HP:0000301	HP:0000301	Abnormality of facial musculature	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0000301	HP:0000301	Abnormality of facial musculature	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome		19
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000301	HP:0000301	Abnormality of facial musculature	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000301	HP:3000008	Abnormality of mylohyoid muscle	1	CL E G H
HP:0000301	HP:0430018	Abnormality of nasal musculature	1	CL E G H
HP:0000301	HP:3000013	Abnormal platysma muscle morphology	1	CL E G H
HP:0000301	HP:0030319	Weakness of facial musculature	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease		191
HP:0000301	HP:0030319	Weakness of facial musculature	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease		191
HP:0000301	HP:0000317	Facial myokymia	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional	135
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of		90
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy		96
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion		96
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACTA1 CL E G H	58	129	OMIM:616852	Myopathy, scapulohumeroperoneal		96
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy		96
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy		96
HP:0000301	HP:0030319	Weakness of facial musculature	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ		307
HP:0000301	HP:0030319	Weakness of facial musculature	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0000301	HP:0000317	Facial myokymia	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0000301	HP:0000317	Facial myokymia	1	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040281 - Very frequent	25
HP:0000301	HP:0030319	Weakness of facial musculature	1	ADCY6 CL E G H	112	237	OMIM:616287	Lethal congenital contracture syndrome 8		2
HP:0000301	HP:0030319	Weakness of facial musculature	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040282 - Frequent	88
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0000301	HP:0030319	Weakness of facial musculature	1	ADSS1 CL E G H	122622	20093	ORPHA:482601	Adenylosuccinate synthetase-like 1-related distal myopathy	HP:0040282 - Frequent
HP:0000301	HP:0030319	Weakness of facial musculature	1	ADSS1 CL E G H	122622	20093	OMIM:617030	Myopathy, distal, 5
HP:0000301	HP:0030319	Weakness of facial musculature	1	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8		127
HP:0000301	HP:0030319	Weakness of facial musculature	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		127
HP:0000301	HP:0030319	Weakness of facial musculature	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes		127
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0000301	HP:0030319	Weakness of facial musculature	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		1
HP:0000301	HP:0030319	Weakness of facial musculature	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma		54
HP:0000301	HP:0030319	Weakness of facial musculature	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0000301	HP:0030319	Weakness of facial musculature	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0000301	HP:0002491	Spasticity of facial muscles	1	ALS2 CL E G H	57679	443	OMIM:205100	Amyotrophic lateral sclerosis 2, juvenile	.	114
HP:0000301	HP:0002491	Spasticity of facial muscles	1	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0000301	HP:0030319	Weakness of facial musculature	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0000301	HP:0030319	Weakness of facial musculature	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome		34
HP:0000301	HP:0000297	Facial hypotonia	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0000301	HP:0030319	Weakness of facial musculature	1	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia		164
HP:0000301	HP:0030319	Weakness of facial musculature	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant		164
HP:0000301	HP:0030319	Weakness of facial musculature	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12		304
HP:0000301	HP:0030319	Weakness of facial musculature	1	ANO5 CL E G H	203859	27337	OMIM:611307	Muscular dystrophy, limb-girdle, type 2L		304
HP:0000301	HP:0030319	Weakness of facial musculature	1	ANXA11 CL E G H	311	535	OMIM:619733	INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0000301	HP:0000297	Facial hypotonia	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	49
HP:0000301	HP:0000297	Facial hypotonia	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	48
HP:0000301	HP:0000297	Facial hypotonia	1	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0000301	HP:0000297	Facial hypotonia	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	41
HP:0000301	HP:0000297	Facial hypotonia	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040282 - Frequent	18
HP:0000301	HP:0000297	Facial hypotonia	1	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0000301	HP:0030319	Weakness of facial musculature	1	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy		78
HP:0000301	HP:0000297	Facial hypotonia	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0000301	HP:0000317	Facial myokymia	1	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040284 - Very rare	100
HP:0000301	HP:0000338	Hypomimic face	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0000301	HP:0000297	Facial hypotonia	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	239
HP:0000301	HP:0030319	Weakness of facial musculature	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0000301	HP:0000297	Facial hypotonia	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	150
HP:0000301	HP:0000338	Hypomimic face	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0000301	HP:0000338	Hypomimic face	1	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0000301	HP:0000338	Hypomimic face	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0000301	HP:0000338	Hypomimic face	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0000301	HP:0000338	Hypomimic face	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0000301	HP:0030319	Weakness of facial musculature	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6		204
HP:0000301	HP:0030319	Weakness of facial musculature	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma		184
HP:0000301	HP:0030319	Weakness of facial musculature	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000301	HP:0030319	Weakness of facial musculature	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy		99
HP:0000301	HP:0030319	Weakness of facial musculature	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2		99
HP:0000301	HP:0030319	Weakness of facial musculature	1	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita		1
HP:0000301	HP:0030319	Weakness of facial musculature	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0000301	HP:0030319	Weakness of facial musculature	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2		1
HP:0000301	HP:0000297	Facial hypotonia	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional	449
HP:0000301	HP:0030319	Weakness of facial musculature	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia		247
HP:0000301	HP:0030319	Weakness of facial musculature	1	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0000301	HP:0000297	Facial hypotonia	1	CAMK2G CL E G H	818	1463	OMIM:618522	Intellectual developmental disorder 59	.	1
HP:0000301	HP:0030319	Weakness of facial musculature	1	CAPN3 CL E G H	825	1480	OMIM:253600	Muscular dystrophy, limb-girdle, type 2A		323
HP:0000301	HP:0000338	Hypomimic face	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3	.	57
HP:0000301	HP:0030319	Weakness of facial musculature	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7		35
HP:0000301	HP:0030319	Weakness of facial musculature	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy		35
HP:0000301	HP:0000297	Facial hypotonia	1	CHAMP1 CL E G H	283489	20311	OMIM:616579	Mental retardation, autosomal dominant 40	.	16
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes		65
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	HP:0040282 - Frequent	11
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type		53
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		74
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		53
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel		88
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRND CL E G H	1144	1965	OMIM:616323	Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency		88
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		88
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRNE CL E G H	1145	1966	OMIM:616324	Myasthenic syndrome, congenital, 4B, fast-channel		139
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		139
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		139
HP:0000301	HP:0030319	Weakness of facial musculature	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000301	HP:0030319	Weakness of facial musculature	1	CLCF1 CL E G H	23529	17412	OMIM:610313	Cold-Induced sweating syndrome 2		6
HP:0000301	HP:0030319	Weakness of facial musculature	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis		102
HP:0000301	HP:0030319	Weakness of facial musculature	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0000301	HP:0030319	Weakness of facial musculature	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0000301	HP:0000338	Hypomimic face	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0000301	HP:0030319	Weakness of facial musculature	1	CNBP CL E G H	7555	13164	OMIM:602668	Dystrophia myotonica 2		1
HP:0000301	HP:0030319	Weakness of facial musculature	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7		9
HP:0000301	HP:0030319	Weakness of facial musculature	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3		9
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL12A1 CL E G H	1303	2188	OMIM:616470	ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2		65
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL13A1 CL E G H	1305	2190	OMIM:616720	Myasthenic syndrome, congenital, 19		6
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		6
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes		6
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis		3
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1		442
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL6A2 CL E G H	1292	2212	OMIM:255600	Myosclerosis, autosomal recessive		478
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1		478
HP:0000301	HP:0030319	Weakness of facial musculature	1	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1		702
HP:0000301	HP:0030319	Weakness of facial musculature	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	COX1 CL E G H	4512	7419	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	COX3 CL E G H	4514	7422	ORPHA:99845	Genetic recurrent myoglobinuria
HP:0000301	HP:0030319	Weakness of facial musculature	1	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0000301	HP:0030319	Weakness of facial musculature	1	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1		24
HP:0000301	HP:0030319	Weakness of facial musculature	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0000301	HP:0030319	Weakness of facial musculature	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0000301	HP:0030319	Weakness of facial musculature	1	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital		80
HP:0000301	HP:0030319	Weakness of facial musculature	1	DCTN1 CL E G H	1639	2711	OMIM:607641	Neuronopathy, distal hereditary motor, type VIIB		86
HP:0000301	HP:0000338	Hypomimic face	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0000301	HP:0030319	Weakness of facial musculature	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040283 - Occasional	263
HP:0000301	HP:0030319	Weakness of facial musculature	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1		263
HP:0000301	HP:0030319	Weakness of facial musculature	1	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita		9
HP:0000301	HP:0000297	Facial hypotonia	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0000301	HP:0030319	Weakness of facial musculature	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1		152
HP:0000301	HP:0030319	Weakness of facial musculature	1	DNA2 CL E G H	1763	2939	OMIM:615156	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal dominant, 6		41
HP:0000301	HP:0030319	Weakness of facial musculature	1	DNAJB6 CL E G H	10049	14888	OMIM:603511	Muscular dystrophy, limb-girdle, type 1E		103
HP:0000301	HP:0000338	Hypomimic face	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0000301	HP:0000338	Hypomimic face	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0000301	HP:0000338	Hypomimic face	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0000301	HP:0030319	Weakness of facial musculature	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040284 - Very rare	94
HP:0000301	HP:0030319	Weakness of facial musculature	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0000301	HP:0030319	Weakness of facial musculature	1	DNMT3B CL E G H	1789	2979	OMIM:619478	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC; FSHD4		79
HP:0000301	HP:0030319	Weakness of facial musculature	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial		91
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0000301	HP:0030319	Weakness of facial musculature	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes		91
HP:0000301	HP:0030319	Weakness of facial musculature	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0000301	HP:0000297	Facial hypotonia	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0000301	HP:0000297	Facial hypotonia	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0000301	HP:0030319	Weakness of facial musculature	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000301	HP:0000338	Hypomimic face	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0000301	HP:0030319	Weakness of facial musculature	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000301	HP:0030319	Weakness of facial musculature	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome		135
HP:0000301	HP:0030319	Weakness of facial musculature	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000301	HP:0000338	Hypomimic face	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0000301	HP:0000338	Hypomimic face	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0000301	HP:0030319	Weakness of facial musculature	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0000301	HP:0030319	Weakness of facial musculature	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0000301	HP:0030319	Weakness of facial musculature	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0000301	HP:0030319	Weakness of facial musculature	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0000301	HP:0030319	Weakness of facial musculature	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040283 - Occasional	197
HP:0000301	HP:0030319	Weakness of facial musculature	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0000301	HP:0000338	Hypomimic face	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0000301	HP:0000338	Hypomimic face	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0000301	HP:0000297	Facial hypotonia	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:0000301	HP:0030319	Weakness of facial musculature	1	GAN CL E G H	8139	4137	ORPHA:643	Giant axonal neuropathy		121
HP:0000301	HP:0030319	Weakness of facial musculature	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0000301	HP:0000338	Hypomimic face	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0000301	HP:0030319	Weakness of facial musculature	1	GDAP1 CL E G H	54332	15968	ORPHA:99948	Charcot-Marie-Tooth disease type 4A		108
HP:0000301	HP:0030319	Weakness of facial musculature	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0000301	HP:0030319	Weakness of facial musculature	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency		128
HP:0000301	HP:0030319	Weakness of facial musculature	1	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1		128
HP:0000301	HP:0000338	Hypomimic face	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0000301	HP:0430019	Abnormality of muscle of facial expression	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000301	HP:0030319	Weakness of facial musculature	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040281 - Very frequent
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0000301	HP:0030319	Weakness of facial musculature	1	GIPC1 CL E G H	10755	1226	OMIM:618940	OCULOPHARYNGODISTAL MYOPATHY 2; OPDM2
HP:0000301	HP:0030319	Weakness of facial musculature	1	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia		68
HP:0000301	HP:0030319	Weakness of facial musculature	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive		68
HP:0000301	HP:0030319	Weakness of facial musculature	1	GJC2 CL E G H	57165	17494	OMIM:608804	Leukodystrophy, hypomyelinating, 2		37
HP:0000301	HP:0030319	Weakness of facial musculature	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0000301	HP:0030319	Weakness of facial musculature	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0000301	HP:0030319	Weakness of facial musculature	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0000301	HP:0030319	Weakness of facial musculature	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy		173
HP:0000301	HP:0000297	Facial hypotonia	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0000301	HP:0000297	Facial hypotonia	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0000301	HP:0000297	Facial hypotonia	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000301	HP:0030319	Weakness of facial musculature	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis		53
HP:0000301	HP:0030319	Weakness of facial musculature	1	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0000301	HP:0030319	Weakness of facial musculature	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0000301	HP:0000297	Facial hypotonia	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0000301	HP:0030319	Weakness of facial musculature	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0000301	HP:0030319	Weakness of facial musculature	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0000301	HP:0030319	Weakness of facial musculature	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0000301	HP:0030319	Weakness of facial musculature	1	IRF2BPL CL E G H	64207	14282	OMIM:618088	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	.
HP:0000301	HP:0045037	Abnormality of jaw muscles	1	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus		99
HP:0000301	HP:0030319	Weakness of facial musculature	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0000301	HP:0030319	Weakness of facial musculature	1	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita		124
HP:0000301	HP:0030319	Weakness of facial musculature	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0000301	HP:0000338	Hypomimic face	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000301	HP:0030319	Weakness of facial musculature	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy		80
HP:0000301	HP:0000297	Facial hypotonia	1	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	.
HP:0000301	HP:0000338	Hypomimic face	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0000301	HP:0000297	Facial hypotonia	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000301	HP:0000297	Facial hypotonia	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type	.	81
HP:0000301	HP:0030319	Weakness of facial musculature	1	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1		202
HP:0000301	HP:0030319	Weakness of facial musculature	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8		28
HP:0000301	HP:0030319	Weakness of facial musculature	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0000301	HP:0030319	Weakness of facial musculature	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy		13
HP:0000301	HP:0030319	Weakness of facial musculature	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0000301	HP:0030319	Weakness of facial musculature	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0000301	HP:0030319	Weakness of facial musculature	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy		13
HP:0000301	HP:0030319	Weakness of facial musculature	1	KY CL E G H	339855	26576	OMIM:617114	MYOPATHY, MYOFIBRILLAR, 7; MFM7		3
HP:0000301	HP:0030319	Weakness of facial musculature	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0000301	HP:0030319	Weakness of facial musculature	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0000301	HP:0030319	Weakness of facial musculature	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0000301	HP:0030319	Weakness of facial musculature	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6		136
HP:0000301	HP:0000317	Facial myokymia	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0000301	HP:0030319	Weakness of facial musculature	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10		11
HP:0000301	HP:0030319	Weakness of facial musculature	1	LMOD3 CL