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:0005346	HP:0005346	Abnormal facial expression	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0005346	HP:0005346	Abnormal facial expression	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0005346	HP:0005346	Abnormal facial expression	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0005346	HP:0005346	Abnormal facial expression	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0005346	HP:0005346	Abnormal facial expression	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0005346	HP:0005346	Abnormal facial expression	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome		49
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism		150
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0005346	HP:0005346	Abnormal facial expression	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0005346	HP:0005346	Abnormal facial expression	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0005346	HP:0005346	Abnormal facial expression	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0005346	HP:0005346	Abnormal facial expression	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0005346	HP:0005346	Abnormal facial expression	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0005346	HP:0005346	Abnormal facial expression	0	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0005346	HP:0005346	Abnormal facial expression	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0005346	HP:0005346	Abnormal facial expression	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0005346	HP:0005346	Abnormal facial expression	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0005346	HP:0005346	Abnormal facial expression	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0005346	HP:0005346	Abnormal facial expression	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0005346	HP:0005346	Abnormal facial expression	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0005346	HP:0005346	Abnormal facial expression	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0005346	HP:0005346	Abnormal facial expression	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia		115
HP:0005346	HP:0005346	Abnormal facial expression	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0005346	HP:0005346	Abnormal facial expression	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0005346	HP:0005346	Abnormal facial expression	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0005346	HP:0005346	Abnormal facial expression	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0005346	HP:0005346	Abnormal facial expression	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0005346	HP:0005346	Abnormal facial expression	0	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0005346	HP:0005346	Abnormal facial expression	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0005346	HP:0005346	Abnormal facial expression	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0005346	HP:0005346	Abnormal facial expression	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0005346	HP:0005346	Abnormal facial expression	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0005346	HP:0005346	Abnormal facial expression	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0005346	HP:0005346	Abnormal facial expression	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy		79
HP:0005346	HP:0005346	Abnormal facial expression	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0005346	HP:0005346	Abnormal facial expression	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0005346	HP:0005346	Abnormal facial expression	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0005346	HP:0005346	Abnormal facial expression	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0005346	HP:0005346	Abnormal facial expression	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0005346	HP:0005346	Abnormal facial expression	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0005346	HP:0005346	Abnormal facial expression	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0005346	HP:0005346	Abnormal facial expression	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0005346	HP:0005346	Abnormal facial expression	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0005346	HP:0005346	Abnormal facial expression	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0005346	HP:0005346	Abnormal facial expression	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0005346	HP:0005346	Abnormal facial expression	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0005346	HP:0005346	Abnormal facial expression	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0005346	HP:0005346	Abnormal facial expression	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0005346	HP:0005346	Abnormal facial expression	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0005346	HP:0005346	Abnormal facial expression	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0005346	HP:0005346	Abnormal facial expression	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy		1
HP:0005346	HP:0005346	Abnormal facial expression	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0005346	HP:0005346	Abnormal facial expression	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0005346	HP:0005346	Abnormal facial expression	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0005346	HP:0005346	Abnormal facial expression	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0005346	HP:0005346	Abnormal facial expression	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0005346	HP:0005346	Abnormal facial expression	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0005346	HP:0005346	Abnormal facial expression	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0005346	HP:0005346	Abnormal facial expression	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0005346	HP:0005346	Abnormal facial expression	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39		43
HP:0005346	HP:0005346	Abnormal facial expression	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0005346	HP:0005346	Abnormal facial expression	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0005346	HP:0005346	Abnormal facial expression	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0005346	HP:0005346	Abnormal facial expression	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0005346	HP:0005346	Abnormal facial expression	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0005346	HP:0005346	Abnormal facial expression	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0005346	HP:0005346	Abnormal facial expression	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0005346	HP:0005346	Abnormal facial expression	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0005346	HP:0005346	Abnormal facial expression	0	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0005346	HP:0005346	Abnormal facial expression	0	HPSE2 CL E G H	60495	18374	OMIM:236730	Urofacial syndrome	.	9
HP:0005346	HP:0005346	Abnormal facial expression	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0005346	HP:0005346	Abnormal facial expression	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0005346	HP:0005346	Abnormal facial expression	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus		99
HP:0005346	HP:0005346	Abnormal facial expression	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0005346	HP:0005346	Abnormal facial expression	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		177
HP:0005346	HP:0005346	Abnormal facial expression	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0005346	HP:0005346	Abnormal facial expression	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0005346	HP:0005346	Abnormal facial expression	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0005346	HP:0005346	Abnormal facial expression	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0005346	HP:0005346	Abnormal facial expression	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0005346	HP:0005346	Abnormal facial expression	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy		528
HP:0005346	HP:0005346	Abnormal facial expression	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy		302
HP:0005346	HP:0005346	Abnormal facial expression	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0005346	HP:0005346	Abnormal facial expression	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0005346	HP:0005346	Abnormal facial expression	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0005346	HP:0005346	Abnormal facial expression	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0005346	HP:0005346	Abnormal facial expression	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0005346	HP:0005346	Abnormal facial expression	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0005346	HP:0005346	Abnormal facial expression	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0005346	HP:0005346	Abnormal facial expression	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0005346	HP:0005346	Abnormal facial expression	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0005346	HP:0005346	Abnormal facial expression	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0005346	HP:0005346	Abnormal facial expression	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0005346	HP:0005346	Abnormal facial expression	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome		140
HP:0005346	HP:0005346	Abnormal facial expression	0	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3		950
HP:0005346	HP:0005346	Abnormal facial expression	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0005346	HP:0005346	Abnormal facial expression	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0005346	HP:0005346	Abnormal facial expression	0	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0005346	HP:0005346	Abnormal facial expression	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus		12
HP:0005346	HP:0005346	Abnormal facial expression	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0005346	HP:0005346	Abnormal facial expression	0	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0005346	HP:0005346	Abnormal facial expression	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0005346	HP:0005346	Abnormal facial expression	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0005346	HP:0005346	Abnormal facial expression	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0005346	HP:0005346	Abnormal facial expression	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0005346	HP:0005346	Abnormal facial expression	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0005346	HP:0005346	Abnormal facial expression	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0005346	HP:0005346	Abnormal facial expression	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0005346	HP:0005346	Abnormal facial expression	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0005346	HP:0005346	Abnormal facial expression	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus		4
HP:0005346	HP:0005346	Abnormal facial expression	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0005346	HP:0005346	Abnormal facial expression	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0005346	HP:0005346	Abnormal facial expression	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0005346	HP:0005346	Abnormal facial expression	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy		10
HP:0005346	HP:0005346	Abnormal facial expression	0	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy		10
HP:0005346	HP:0005346	Abnormal facial expression	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration		55
HP:0005346	HP:0005346	Abnormal facial expression	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0005346	HP:0005346	Abnormal facial expression	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		194
HP:0005346	HP:0005346	Abnormal facial expression	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0005346	HP:0005346	Abnormal facial expression	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0005346	HP:0005346	Abnormal facial expression	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0005346	HP:0005346	Abnormal facial expression	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0005346	HP:0005346	Abnormal facial expression	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5		77
HP:0005346	HP:0005346	Abnormal facial expression	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0005346	HP:0005346	Abnormal facial expression	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0005346	HP:0005346	Abnormal facial expression	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0005346	HP:0005346	Abnormal facial expression	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0005346	HP:0005346	Abnormal facial expression	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism		133
HP:0005346	HP:0005346	Abnormal facial expression	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0005346	HP:0005346	Abnormal facial expression	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0005346	HP:0005346	Abnormal facial expression	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0005346	HP:0005346	Abnormal facial expression	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0005346	HP:0005346	Abnormal facial expression	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy		79
HP:0005346	HP:0005346	Abnormal facial expression	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1		66
HP:0005346	HP:0005346	Abnormal facial expression	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0005346	HP:0005346	Abnormal facial expression	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0005346	HP:0005346	Abnormal facial expression	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0005346	HP:0005346	Abnormal facial expression	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0005346	HP:0005346	Abnormal facial expression	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0005346	HP:0005346	Abnormal facial expression	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0005346	HP:0005346	Abnormal facial expression	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0005346	HP:0005346	Abnormal facial expression	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0005346	HP:0005346	Abnormal facial expression	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0005346	HP:0005346	Abnormal facial expression	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease		69
HP:0005346	HP:0005346	Abnormal facial expression	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1		69
HP:0005346	HP:0005346	Abnormal facial expression	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0005346	HP:0005346	Abnormal facial expression	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0005346	HP:0005346	Abnormal facial expression	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0005346	HP:0005346	Abnormal facial expression	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:0005346	HP:0005346	Abnormal facial expression	0	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0005346	HP:0005346	Abnormal facial expression	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0005346	HP:0005346	Abnormal facial expression	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0005346	HP:0005346	Abnormal facial expression	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0005346	HP:0005346	Abnormal facial expression	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0005346	HP:0005346	Abnormal facial expression	0	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy		1200
HP:0005346	HP:0005346	Abnormal facial expression	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0005346	HP:0005346	Abnormal facial expression	0	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset		1200
HP:0005346	HP:0005346	Abnormal facial expression	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0005346	HP:0005346	Abnormal facial expression	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0005346	HP:0005346	Abnormal facial expression	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0005346	HP:0005346	Abnormal facial expression	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0005346	HP:0005346	Abnormal facial expression	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0005346	HP:0005346	Abnormal facial expression	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0005346	HP:0005346	Abnormal facial expression	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0005346	HP:0005346	Abnormal facial expression	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0005346	HP:0005346	Abnormal facial expression	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0005346	HP:0005346	Abnormal facial expression	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome		5
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism		13
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0005346	HP:0005346	Abnormal facial expression	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0005346	HP:0005346	Abnormal facial expression	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy		174
HP:0005346	HP:0005346	Abnormal facial expression	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0005346	HP:0005346	Abnormal facial expression	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0005346	HP:0005346	Abnormal facial expression	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0005346	HP:0005346	Abnormal facial expression	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency		28
HP:0005346	HP:0005346	Abnormal facial expression	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0005346	HP:0005346	Abnormal facial expression	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch		14
HP:0005346	HP:0005346	Abnormal facial expression	0	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy		14
HP:0005346	HP:0005346	Abnormal facial expression	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism		9
HP:0005346	HP:0005346	Abnormal facial expression	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0005346	HP:0005346	Abnormal facial expression	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0005346	HP:0005346	Abnormal facial expression	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0005346	HP:0005346	Abnormal facial expression	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation		39
HP:0005346	HP:0005346	Abnormal facial expression	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0005346	HP:0005346	Abnormal facial expression	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive		80
HP:0005346	HP:0005346	Abnormal facial expression	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0005346	HP:0005346	Abnormal facial expression	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0005346	HP:0005346	Abnormal facial expression	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus		140
HP:0005346	HP:0005346	Abnormal facial expression	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0005346	HP:0005346	Abnormal facial expression	0	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0005346	HP:0005346	Abnormal facial expression	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0005346	HP:0005346	Abnormal facial expression	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0005346	HP:0005346	Abnormal facial expression	0	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8		108
HP:0005346	HP:0005346	Abnormal facial expression	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0005346	HP:0005346	Abnormal facial expression	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0005346	HP:0005346	Abnormal facial expression	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0005346	HP:0005346	Abnormal facial expression	0	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0005346	HP:0005346	Abnormal facial expression	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0005346	HP:0005346	Abnormal facial expression	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44		13
HP:0005346	HP:0005346	Abnormal facial expression	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome		278
HP:0005346	HP:0005346	Abnormal facial expression	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic		2
HP:0005346	HP:0005346	Abnormal facial expression	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0005346	HP:0005346	Abnormal facial expression	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0005346	HP:0004673	Decreased facial expression	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy		96
HP:0005346	HP:0004673	Decreased facial expression	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0005346	HP:0004673	Decreased facial expression	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3		96
HP:0005346	HP:0004673	Decreased facial expression	1	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset		4
HP:0005346	HP:0005324	Disturbance of facial expression	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0005346	HP:0004673	Decreased facial expression	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0005346	HP:0004673	Decreased facial expression	1	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome		100
HP:0005346	HP:0004673	Decreased facial expression	1	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0005346	HP:0005324	Disturbance of facial expression	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0005346	HP:0004673	Decreased facial expression	1	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12		150
HP:0005346	HP:0004673	Decreased facial expression	1	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism		150
HP:0005346	HP:0004673	Decreased facial expression	1	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0005346	HP:0004673	Decreased facial expression	1	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0005346	HP:0004673	Decreased facial expression	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type		36
HP:0005346	HP:0004673	Decreased facial expression	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0005346	HP:0004673	Decreased facial expression	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0005346	HP:0004673	Decreased facial expression	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0005346	HP:0004673	Decreased facial expression	1	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset		11
HP:0005346	HP:0005324	Disturbance of facial expression	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0005346	HP:0004673	Decreased facial expression	1	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset		1
HP:0005346	HP:0005324	Disturbance of facial expression	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0005346	HP:0004673	Decreased facial expression	1	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49		3
HP:0005346	HP:0004673	Decreased facial expression	1	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES		3
HP:0005346	HP:0005324	Disturbance of facial expression	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0005346	HP:0004673	Decreased facial expression	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0005346	HP:0004673	Decreased facial expression	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0005346	HP:0004673	Decreased facial expression	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0005346	HP:0004673	Decreased facial expression	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0005346	HP:0004673	Decreased facial expression	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita		3
HP:0005346	HP:0005324	Disturbance of facial expression	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia		115
HP:0005346	HP:0005324	Disturbance of facial expression	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0005346	HP:0005324	Disturbance of facial expression	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0005346	HP:0004673	Decreased facial expression	1	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome		86
HP:0005346	HP:0004673	Decreased facial expression	1	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0005346	HP:0004673	Decreased facial expression	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0005346	HP:0004673	Decreased facial expression	1	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0005346	HP:0004673	Decreased facial expression	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0005346	HP:0004673	Decreased facial expression	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0005346	HP:0004673	Decreased facial expression	1	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0005346	HP:0004673	Decreased facial expression	1	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0005346	HP:0005324	Disturbance of facial expression	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0005346	HP:0004673	Decreased facial expression	1	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy		79
HP:0005346	HP:0004673	Decreased facial expression	1	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu		26
HP:0005346	HP:0004673	Decreased facial expression	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0005346	HP:0004673	Decreased facial expression	1	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0005346	HP:0004673	Decreased facial expression	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0005346	HP:0004673	Decreased facial expression	1	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0005346	HP:0004673	Decreased facial expression	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease		2
HP:0005346	HP:0005324	Disturbance of facial expression	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0005346	HP:0005324	Disturbance of facial expression	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0005346	HP:0004673	Decreased facial expression	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0005346	HP:0004673	Decreased facial expression	1	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35		76
HP:0005346	HP:0004673	Decreased facial expression	1	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset		36
HP:0005346	HP:0004673	Decreased facial expression	1	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome		36
HP:0005346	HP:0004673	Decreased facial expression	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0005346	HP:0004673	Decreased facial expression	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type		184
HP:0005346	HP:0004673	Decreased facial expression	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0005346	HP:0004673	Decreased facial expression	1	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0005346	HP:0004673	Decreased facial expression	1	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy		1
HP:0005346	HP:0004673	Decreased facial expression	1	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0005346	HP:0004673	Decreased facial expression	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0005346	HP:0005324	Disturbance of facial expression	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0005346	HP:0005324	Disturbance of facial expression	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0005346	HP:0005324	Disturbance of facial expression	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0005346	HP:0004673	Decreased facial expression	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0005346	HP:0004673	Decreased facial expression	1	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset
HP:0005346	HP:0004673	Decreased facial expression	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0005346	HP:0004673	Decreased facial expression	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39		43
HP:0005346	HP:0004673	Decreased facial expression	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease		8
HP:0005346	HP:0004673	Decreased facial expression	1	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy
HP:0005346	HP:0004673	Decreased facial expression	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease		45
HP:0005346	HP:0005324	Disturbance of facial expression	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0005346	HP:0004673	Decreased facial expression	1	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset		1
HP:0005346	HP:0004673	Decreased facial expression	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14		34
HP:0005346	HP:0004673	Decreased facial expression	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0005346	HP:0004673	Decreased facial expression	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0005346	HP:0004673	Decreased facial expression	1	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3		2
HP:0005346	HP:0004673	Decreased facial expression	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome		345
HP:0005346	HP:0004673	Decreased facial expression	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0005346	HP:0005324	Disturbance of facial expression	1	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	99
HP:0005346	HP:0004673	Decreased facial expression	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy		127
HP:0005346	HP:0004673	Decreased facial expression	1	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		177
HP:0005346	HP:0004673	Decreased facial expression	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0005346	HP:0004673	Decreased facial expression	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0005346	HP:0004673	Decreased facial expression	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0005346	HP:0004673	Decreased facial expression	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:0005346	HP:0004673	Decreased facial expression	1	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type		4
HP:0005346	HP:0005324	Disturbance of facial expression	1	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy		528
HP:0005346	HP:0005324	Disturbance of facial expression	1	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy		302
HP:0005346	HP:0004673	Decreased facial expression	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0005346	HP:0004673	Decreased facial expression	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0005346	HP:0004673	Decreased facial expression	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0005346	HP:0004673	Decreased facial expression	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		1
HP:0005346	HP:0004673	Decreased facial expression	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0005346	HP:0004673	Decreased facial expression	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0005346	HP:0005324	Disturbance of facial expression	1	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0005346	HP:0004673	Decreased facial expression	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0005346	HP:0004673	Decreased facial expression	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease		221
HP:0005346	HP:0004673	Decreased facial expression	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy		2
HP:0005346	HP:0004673	Decreased facial expression	1	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset		140
HP:0005346	HP:0004673	Decreased facial expression	1	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome		140
HP:0005346	HP:0005324	Disturbance of facial expression	1	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.	950
HP:0005346	HP:0004673	Decreased facial expression	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0005346	HP:0004673	Decreased facial expression	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0005346	HP:0004673	Decreased facial expression	1	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia
HP:0005346	HP:0005324	Disturbance of facial expression	1	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	12
HP:0005346	HP:0005324	Disturbance of facial expression	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0005346	HP:0004673	Decreased facial expression	1	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia		105
HP:0005346	HP:0004673	Decreased facial expression	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0005346	HP:0004673	Decreased facial expression	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy		1269
HP:0005346	HP:0004673	Decreased facial expression	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0005346	HP:0004673	Decreased facial expression	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0005346	HP:0004673	Decreased facial expression	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy		131
HP:0005346	HP:0004673	Decreased facial expression	1	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0005346	HP:0004673	Decreased facial expression	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0005346	HP:0004673	Decreased facial expression	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0005346	HP:0005324	Disturbance of facial expression	1	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	4
HP:0005346	HP:0004673	Decreased facial expression	1	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy
HP:0005346	HP:0004673	Decreased facial expression	1	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset		27
HP:0005346	HP:0004673	Decreased facial expression	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0005346	HP:0004673	Decreased facial expression	1	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy		10
HP:0005346	HP:0004673	Decreased facial expression	1	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy		10
HP:0005346	HP:0004673	Decreased facial expression	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration		55
HP:0005346	HP:0005324	Disturbance of facial expression	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0005346	HP:0004673	Decreased facial expression	1	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome		194
HP:0005346	HP:0005324	Disturbance of facial expression	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0005346	HP:0005324	Disturbance of facial expression	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0005346	HP:0004673	Decreased facial expression	1	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1		9
HP:0005346	HP:0004673	Decreased facial expression	1	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1		28
HP:0005346	HP:0004673	Decreased facial expression	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.	77
HP:0005346	HP:0004673	Decreased facial expression	1	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0005346	HP:0004673	Decreased facial expression	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0005346	HP:0004673	Decreased facial expression	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome		77
HP:0005346	HP:0004673	Decreased facial expression	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies		9
HP:0005346	HP:0004673	Decreased facial expression	1	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism		133
HP:0005346	HP:0005324	Disturbance of facial expression	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0005346	HP:0004673	Decreased facial expression	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0005346	HP:0004673	Decreased facial expression	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0005346	HP:0005324	Disturbance of facial expression	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0005346	HP:0004673	Decreased facial expression	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0005346	HP:0005324	Disturbance of facial expression	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy		79
HP:0005346	HP:0005324	Disturbance of facial expression	1	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1		66
HP:0005346	HP:0005324	Disturbance of facial expression	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0005346	HP:0005324	Disturbance of facial expression	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0005346	HP:0004673	Decreased facial expression	1	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism		6
HP:0005346	HP:0004673	Decreased facial expression	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0005346	HP:0004673	Decreased facial expression	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0005346	HP:0004673	Decreased facial expression	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0005346	HP:0004673	Decreased facial expression	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0005346	HP:0004673	Decreased facial expression	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0005346	HP:0004673	Decreased facial expression	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0005346	HP:0004673	Decreased facial expression	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease		69
HP:0005346	HP:0004673	Decreased facial expression	1	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1		69
HP:0005346	HP:0004673	Decreased facial expression	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0005346	HP:0005324	Disturbance of facial expression	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0005346	HP:0004673	Decreased facial expression	1	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31		53
HP:0005346	HP:0004673	Decreased facial expression	1	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation		53
HP:0005346	HP:0004673	Decreased facial expression	1	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0005346	HP:0004673	Decreased facial expression	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome		3
HP:0005346	HP:0004673	Decreased facial expression	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0005346	HP:0004673	Decreased facial expression	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0005346	HP:0004673	Decreased facial expression	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0005346	HP:0004673	Decreased facial expression	1	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy		1200
HP:0005346	HP:0004673	Decreased facial expression	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia		1200
HP:0005346	HP:0004673	Decreased facial expression	1	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset		1200
HP:0005346	HP:0004673	Decreased facial expression	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0005346	HP:0004673	Decreased facial expression	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia		1200
HP:0005346	HP:0005324	Disturbance of facial expression	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0005346	HP:0005324	Disturbance of facial expression	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0005346	HP:0005324	Disturbance of facial expression	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0005346	HP:0005324	Disturbance of facial expression	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0005346	HP:0005324	Disturbance of facial expression	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0005346	HP:0004673	Decreased facial expression	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0005346	HP:0004673	Decreased facial expression	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy		144
HP:0005346	HP:0004673	Decreased facial expression	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4		113
HP:0005346	HP:0004673	Decreased facial expression	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome		57
HP:0005346	HP:0004673	Decreased facial expression	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0005346	HP:0004673	Decreased facial expression	1	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0005346	HP:0004673	Decreased facial expression	1	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1		70
HP:0005346	HP:0004673	Decreased facial expression	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0005346	HP:0004673	Decreased facial expression	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0005346	HP:0004673	Decreased facial expression	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome		5
HP:0005346	HP:0004673	Decreased facial expression	1	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0005346	HP:0004673	Decreased facial expression	1	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1		51
HP:0005346	HP:0004673	Decreased facial expression	1	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism		13
HP:0005346	HP:0004673	Decreased facial expression	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0005346	HP:0004673	Decreased facial expression	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0005346	HP:0004673	Decreased facial expression	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0005346	HP:0004673	Decreased facial expression	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0005346	HP:0004673	Decreased facial expression	1	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy		174
HP:0005346	HP:0004673	Decreased facial expression	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease		65
HP:0005346	HP:0004673	Decreased facial expression	1	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome		65
HP:0005346	HP:0004673	Decreased facial expression	1	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset		35
HP:0005346	HP:0004673	Decreased facial expression	1	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency		28
HP:0005346	HP:0004673	Decreased facial expression	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0005346	HP:0004673	Decreased facial expression	1	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch		14
HP:0005346	HP:0004673	Decreased facial expression	1	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy		14
HP:0005346	HP:0004673	Decreased facial expression	1	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism		9
HP:0005346	HP:0004673	Decreased facial expression	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0005346	HP:0004673	Decreased facial expression	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0005346	HP:0004673	Decreased facial expression	1	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset		7
HP:0005346	HP:0004673	Decreased facial expression	1	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation		39
HP:0005346	HP:0004673	Decreased facial expression	1	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive		39
HP:0005346	HP:0004673	Decreased facial expression	1	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive		80
HP:0005346	HP:0004673	Decreased facial expression	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0005346	HP:0004673	Decreased facial expression	1	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0005346	HP:0005324	Disturbance of facial expression	1	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	140
HP:0005346	HP:0004673	Decreased facial expression	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy		54
HP:0005346	HP:0004673	Decreased facial expression	1	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4		54
HP:0005346	HP:0004673	Decreased facial expression	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy		108
HP:0005346	HP:0004673	Decreased facial expression	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0005346	HP:0004673	Decreased facial expression	1	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8		108
HP:0005346	HP:0004673	Decreased facial expression	1	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset
HP:0005346	HP:0004673	Decreased facial expression	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0005346	HP:0004673	Decreased facial expression	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0005346	HP:0004673	Decreased facial expression	1	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy		35
HP:0005346	HP:0004673	Decreased facial expression	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2		35
HP:0005346	HP:0004673	Decreased facial expression	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44		13
HP:0005346	HP:0004673	Decreased facial expression	1	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome		278
HP:0005346	HP:0004673	Decreased facial expression	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic		2
HP:0005346	HP:0004673	Decreased facial expression	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease		37
HP:0005346	HP:0004673	Decreased facial expression	1	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0005346	HP:0040212	Risus sardonicus	2	CL E G H
HP:0005346	HP:0002058	Myopathic facies	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	96
HP:0005346	HP:0002058	Myopathic facies	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0005346	HP:0000298	Mask-like facies	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0005346	HP:0002058	Myopathic facies	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0005346	HP:0000298	Mask-like facies	2	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0005346	HP:0000273	Facial grimacing	2	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0005346	HP:0000338	Hypomimic face	2	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0005346	HP:0000298	Mask-like facies	2	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0005346	HP:0011468	Facial tics	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0005346	HP:0000338	Hypomimic face	2	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0005346	HP:0000338	Hypomimic face	2	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0005346	HP:0000338	Hypomimic face	2	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0005346	HP:0000338	Hypomimic face	2	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0005346	HP:0000338	Hypomimic face	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0005346	HP:0000298	Mask-like facies	2	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0005346	HP:0000298	Mask-like facies	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0005346	HP:0000298	Mask-like facies	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0005346	HP:0000298	Mask-like facies	2	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0005346	HP:0000273	Facial grimacing	2	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0005346	HP:0000298	Mask-like facies	2	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0005346	HP:0000273	Facial grimacing	2	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0005346	HP:0002058	Myopathic facies	2	BCL11B CL E G H	64919	13222	OMIM:617237	Immunodeficiency 49	.	3
HP:0005346	HP:0002058	Myopathic facies	2	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0005346	HP:0011468	Facial tics	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0005346	HP:0000338	Hypomimic face	2	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3	.	57
HP:0005346	HP:0002058	Myopathic facies	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	.	1
HP:0005346	HP:0002058	Myopathic facies	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0005346	HP:0000338	Hypomimic face	2	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0005346	HP:0002058	Myopathic facies	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional	3
HP:0005346	HP:0000273	Facial grimacing	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0005346	HP:0000273	Facial grimacing	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0005346	HP:0000273	Facial grimacing	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0005346	HP:0000298	Mask-like facies	2	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0005346	HP:0000338	Hypomimic face	2	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0005346	HP:0002058	Myopathic facies	2	DMXL2 CL E G H	23312	2938	OMIM:618663	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81		3
HP:0005346	HP:0000338	Hypomimic face	2	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0005346	HP:0000338	Hypomimic face	2	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0005346	HP:0000338	Hypomimic face	2	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0005346	HP:0005335	Sleepy facial expression	2	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	167
HP:0005346	HP:0000298	Mask-like facies	2	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	79
HP:0005346	HP:0002058	Myopathic facies	2	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0005346	HP:0002058	Myopathic facies	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0005346	HP:0000298	Mask-like facies	2	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent
HP:0005346	HP:0002058	Myopathic facies	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0005346	HP:0000298	Mask-like facies	2	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0005346	HP:0000338	Hypomimic face	2	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0005346	HP:0000273	Facial grimacing	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0005346	HP:0000273	Facial grimacing	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0005346	HP:0002058	Myopathic facies	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0005346	HP:0000298	Mask-like facies	2	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0005346	HP:0000338	Hypomimic face	2	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0005346	HP:0000338	Hypomimic face	2	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0005346	HP:0000298	Mask-like facies	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0005346	HP:0000298	Mask-like facies	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent	184
HP:0005346	HP:0000298	Mask-like facies	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0005346	HP:0000298	Mask-like facies	2	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0005346	HP:0000298	Mask-like facies	2	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	1
HP:0005346	HP:0000338	Hypomimic face	2	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0005346	HP:0000338	Hypomimic face	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0005346	HP:0011468	Facial tics	2	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0005346	HP:0011468	Facial tics	2	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0005346	HP:0000273	Facial grimacing	2	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent	33
HP:0005346	HP:0000338	Hypomimic face	2	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0005346	HP:0000298	Mask-like facies	2	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0005346	HP:0002058	Myopathic facies	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0005346	HP:0002058	Myopathic facies	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.	43
HP:0005346	HP:0000338	Hypomimic face	2	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0005346	HP:0002058	Myopathic facies	2	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0005346	HP:0002058	Myopathic facies	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.	45
HP:0005346	HP:0000273	Facial grimacing	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0005346	HP:0000298	Mask-like facies	2	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0005346	HP:0002058	Myopathic facies	2	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.	34
HP:0005346	HP:0002058	Myopathic facies	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0005346	HP:0005327	Loss of facial expression	2	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0005346	HP:0002058	Myopathic facies	2	HOXB1 CL E G H	3211	5111	OMIM:614744	Facial paresis, hereditary congenital, 3	.	2
HP:0005346	HP:0000298	Mask-like facies	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0005346	HP:0000298	Mask-like facies	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0005346	HP:0002058	Myopathic facies	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	127
HP:0005346	HP:0000298	Mask-like facies	2	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent	177
HP:0005346	HP:0000338	Hypomimic face	2	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0005346	HP:0002058	Myopathic facies	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040282 - Frequent	13
HP:0005346	HP:0002058	Myopathic facies	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome	.	13
HP:0005346	HP:0000298	Mask-like facies	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0005346	HP:0000338	Hypomimic face	2	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0005346	HP:0011468	Facial tics	2	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional	528
HP:0005346	HP:0011468	Facial tics	2	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional	302
HP:0005346	HP:0000298	Mask-like facies	2	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0005346	HP:0002058	Myopathic facies	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0005346	HP:0000298	Mask-like facies	2	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0005346	HP:0002058	Myopathic facies	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0005346	HP:0002058	Myopathic facies	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0005346	HP:0000298	Mask-like facies	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0005346	HP:0000273	Facial grimacing	2	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0005346	HP:0002058	Myopathic facies	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1	.
HP:0005346	HP:0000338	Hypomimic face	2	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0005346	HP:0002058	Myopathic facies	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	2
HP:0005346	HP:0000298	Mask-like facies	2	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0005346	HP:0005329	Fixed facial expression	2	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040282 - Frequent	140
HP:0005346	HP:0000298	Mask-like facies	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0005346	HP:0002058	Myopathic facies	2	MSTO1 CL E G H	55154	29678	OMIM:617675	Myopathy, mitochondrial, and ataxia	.
HP:0005346	HP:0005335	Sleepy facial expression	2	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	7
HP:0005346	HP:0002058	Myopathic facies	2	MYH2 CL E G H	4620	7572	OMIM:605637	Myopathy, proximal, and ophthalmoplegia	.	105
HP:0005346	HP:0000298	Mask-like facies	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0005346	HP:0002058	Myopathic facies	2	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional	1269
HP:0005346	HP:0002058	Myopathic facies	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	HP:0040283 - Occasional	1269
HP:0005346	HP:0002058	Myopathic facies	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0005346	HP:0002058	Myopathic facies	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	131
HP:0005346	HP:0000338	Hypomimic face	2	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0005346	HP:0002058	Myopathic facies	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0005346	HP:0002058	Myopathic facies	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0005346	HP:0002058	Myopathic facies	2	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0005346	HP:0000298	Mask-like facies	2	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0005346	HP:0000338	Hypomimic face	2	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0005346	HP:0000298	Mask-like facies	2	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.	10
HP:0005346	HP:0000298	Mask-like facies	2	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy	HP:0040283 - Occasional	10
HP:0005346	HP:0000298	Mask-like facies	2	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional	55
HP:0005346	HP:0000273	Facial grimacing	2	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0005346	HP:0000298	Mask-like facies	2	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent	194
HP:0005346	HP:0011468	Facial tics	2	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0005346	HP:0000273	Facial grimacing	2	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0005346	HP:0000298	Mask-like facies	2	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0005346	HP:0000298	Mask-like facies	2	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0005346	HP:0002058	Myopathic facies	2	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch		77
HP:0005346	HP:0005329	Fixed facial expression	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0005346	HP:0000298	Mask-like facies	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0005346	HP:0002058	Myopathic facies	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0005346	HP:0000338	Hypomimic face	2	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0005346	HP:0011468	Facial tics	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0005346	HP:0000338	Hypomimic face	2	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0005346	HP:0000338	Hypomimic face	2	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0005346	HP:0000273	Facial grimacing	2	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0005346	HP:0000298	Mask-like facies	2	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0005346	HP:0005335	Sleepy facial expression	2	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79
HP:0005346	HP:0000273	Facial grimacing	2	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66
HP:0005346	HP:0011468	Facial tics	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0005346	HP:0011468	Facial tics	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0005346	HP:0000338	Hypomimic face	2	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0005346	HP:0000338	Hypomimic face	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0005346	HP:0000298	Mask-like facies	2	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0005346	HP:0000338	Hypomimic face	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0005346	HP:0000298	Mask-like facies	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0005346	HP:0000298	Mask-like facies	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0005346	HP:0000338	Hypomimic face	2	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0005346	HP:0005327	Loss of facial expression	2	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0005346	HP:0000298	Mask-like facies	2	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0005346	HP:0005327	Loss of facial expression	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0005346	HP:0011468	Facial tics	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0005346	HP:0002058	Myopathic facies	2	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.	53
HP:0005346	HP:0002058	Myopathic facies	2	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040282 - Frequent	53
HP:0005346	HP:0002058	Myopathic facies	2	PYROXD1 CL E G H	79912	26162	OMIM:617258	MYOPATHY, MYOFIBRILLAR, 8; MFM8		5
HP:0005346	HP:0000298	Mask-like facies	2	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent	3
HP:0005346	HP:0000298	Mask-like facies	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0005346	HP:0000338	Hypomimic face	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0005346	HP:0002058	Myopathic facies	2	RYR1 CL E G H	6261	10483	ORPHA:324581	Benign Samaritan congenital myopathy	HP:0040283 - Occasional	1200
HP:0005346	HP:0002058	Myopathic facies	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent	1200
HP:0005346	HP:0002058	Myopathic facies	2	RYR1 CL E G H	6261	10483	ORPHA:424107	Congenital myopathy with myasthenic-like onset	HP:0040282 - Frequent	1200
HP:0005346	HP:0002058	Myopathic facies	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0005346	HP:0002058	Myopathic facies	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.	1200
HP:0005346	HP:0011468	Facial tics	2	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0005346	HP:0011468	Facial tics	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0005346	HP:0011468	Facial tics	2	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0005346	HP:0011468	Facial tics	2	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0005346	HP:0011468	Facial tics	2	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0005346	HP:0002058	Myopathic facies	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0005346	HP:0002058	Myopathic facies	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	144
HP:0005346	HP:0002058	Myopathic facies	2	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040282 - Frequent	113
HP:0005346	HP:0002058	Myopathic facies	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040282 - Frequent	57
HP:0005346	HP:0000338	Hypomimic face	2	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0005346	HP:0000338	Hypomimic face	2	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0005346	HP:0000298	Mask-like facies	2	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0005346	HP:0000338	Hypomimic face	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0005346	HP:0000338	Hypomimic face	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent	42
HP:0005346	HP:0000338	Hypomimic face	2	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0005346	HP:0000338	Hypomimic face	2	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0005346	HP:0002058	Myopathic facies	2	SLC52A3 CL E G H	113278	16187	OMIM:211530	Brown-Vialetto-Van laere syndrome 1	.	51
HP:0005346	HP:0000338	Hypomimic face	2	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent	13
HP:0005346	HP:0000338	Hypomimic face	2	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0005346	HP:0002058	Myopathic facies	2	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0005346	HP:0000298	Mask-like facies	2	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040283 - Occasional	122
HP:0005346	HP:0002058	Myopathic facies	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine	.	4
HP:0005346	HP:0000298	Mask-like facies	2	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	174
HP:0005346	HP:0000338	Hypomimic face	2	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0005346	HP:0000338	Hypomimic face	2	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0005346	HP:0000298	Mask-like facies	2	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0005346	HP:0000338	Hypomimic face	2	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0005346	HP:0002058	Myopathic facies	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness		3
HP:0005346	HP:0002058	Myopathic facies	2	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	.	14
HP:0005346	HP:0002058	Myopathic facies	2	STAC3 CL E G H	246329	28423	ORPHA:168572	Native American myopathy	HP:0040281 - Very frequent	14
HP:0005346	HP:0000338	Hypomimic face	2	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	9
HP:0005346	HP:0002058	Myopathic facies	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0005346	HP:0002058	Myopathic facies	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration		12
HP:0005346	HP:0000298	Mask-like facies	2	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0005346	HP:0000338	Hypomimic face	2	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent	39
HP:0005346	HP:0000338	Hypomimic face	2	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0005346	HP:0000298	Mask-like facies	2	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0005346	HP:0000298	Mask-like facies	2	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	103
HP:0005346	HP:0002058	Myopathic facies	2	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0005346	HP:0002058	Myopathic facies	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	54
HP:0005346	HP:0002058	Myopathic facies	2	TPM2 CL E G H	7169	12011	OMIM:609285	Nemaline myopathy 4	.	54
HP:0005346	HP:0002058	Myopathic facies	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040282 - Frequent	108
HP:0005346	HP:0002058	Myopathic facies	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0005346	HP:0000298	Mask-like facies	2	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8	HP:0040281 - Very frequent	108
HP:0005346	HP:0000298	Mask-like facies	2	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0005346	HP:0000338	Hypomimic face	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0005346	HP:0000338	Hypomimic face	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0005346	HP:0002058	Myopathic facies	2	UBA1 CL E G H	7317	12469	ORPHA:1145	Infantile-onset X-linked spinal muscular atrophy	HP:0040282 - Frequent	35
HP:0005346	HP:0002058	Myopathic facies	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.	35
HP:0005346	HP:0000298	Mask-like facies	2	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.	13
HP:0005346	HP:0000298	Mask-like facies	2	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040283 - Occasional	278
HP:0005346	HP:0002058	Myopathic facies	2	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.	2
HP:0005346	HP:0000338	Hypomimic face	2	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0005346	HP:0002058	Myopathic facies	2	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29