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:0100660	HP:0100660	Dyskinesia	0	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0100660	HP:0100660	Dyskinesia	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100660	HP:0100660	Dyskinesia	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency		91
HP:0100660	HP:0100660	Dyskinesia	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0100660	HP:0100660	Dyskinesia	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	.	25
HP:0100660	HP:0100660	Dyskinesia	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia		25
HP:0100660	HP:0100660	Dyskinesia	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0100660	HP:0100660	Dyskinesia	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0100660	HP:0100660	Dyskinesia	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	7
HP:0100660	HP:0100660	Dyskinesia	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0100660	HP:0100660	Dyskinesia	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1	.	166
HP:0100660	HP:0100660	Dyskinesia	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0100660	HP:0100660	Dyskinesia	0	ATG7 CL E G H	10533	16935	OMIM:619422	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31		1
HP:0100660	HP:0100660	Dyskinesia	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0100660	HP:0100660	Dyskinesia	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	239
HP:0100660	HP:0100660	Dyskinesia	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	150
HP:0100660	HP:0100660	Dyskinesia	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0100660	HP:0100660	Dyskinesia	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent	9
HP:0100660	HP:0100660	Dyskinesia	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II		8
HP:0100660	HP:0100660	Dyskinesia	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7		8
HP:0100660	HP:0100660	Dyskinesia	0	B4GALNT1 CL E G H	2583	4117	ORPHA:101006	Autosomal recessive spastic paraplegia type 26	HP:0040283 - Occasional	25
HP:0100660	HP:0100660	Dyskinesia	0	B4GALNT1 CL E G H	2583	4117	OMIM:609195	Spastic paraplegia 26, autosomal recessive	.	25
HP:0100660	HP:0100660	Dyskinesia	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0100660	HP:0100660	Dyskinesia	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	385
HP:0100660	HP:0100660	Dyskinesia	0	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1		56
HP:0100660	HP:0100660	Dyskinesia	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	449
HP:0100660	HP:0100660	Dyskinesia	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0100660	HP:0100660	Dyskinesia	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	59
HP:0100660	HP:0100660	Dyskinesia	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0100660	HP:0100660	Dyskinesia	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	118
HP:0100660	HP:0100660	Dyskinesia	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100660	HP:0100660	Dyskinesia	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	405
HP:0100660	HP:0100660	Dyskinesia	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100660	HP:0100660	Dyskinesia	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0100660	HP:0100660	Dyskinesia	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0100660	HP:0100660	Dyskinesia	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100660	HP:0100660	Dyskinesia	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	18
HP:0100660	HP:0100660	Dyskinesia	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type		54
HP:0100660	HP:0100660	Dyskinesia	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type		54
HP:0100660	HP:0100660	Dyskinesia	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0100660	HP:0100660	Dyskinesia	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100660	HP:0100660	Dyskinesia	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0100660	HP:0100660	Dyskinesia	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100660	HP:0100660	Dyskinesia	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0100660	HP:0100660	Dyskinesia	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040282 - Frequent	57
HP:0100660	HP:0100660	Dyskinesia	0	DEAF1 CL E G H	10522	14677	OMIM:617171	Dyskinesia, seizures, and intellectual developmental disorder	.	33
HP:0100660	HP:0100660	Dyskinesia	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	47
HP:0100660	HP:0100660	Dyskinesia	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0100660	HP:0100660	Dyskinesia	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0100660	HP:0100660	Dyskinesia	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040284 - Very rare	25
HP:0100660	HP:0100660	Dyskinesia	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	6
HP:0100660	HP:0100660	Dyskinesia	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	72
HP:0100660	HP:0100660	Dyskinesia	0	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria		44
HP:0100660	HP:0100660	Dyskinesia	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	60
HP:0100660	HP:0100660	Dyskinesia	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0100660	HP:0100660	Dyskinesia	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	170
HP:0100660	HP:0100660	Dyskinesia	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0100660	HP:0100660	Dyskinesia	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	15
HP:0100660	HP:0100660	Dyskinesia	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44		122
HP:0100660	HP:0100660	Dyskinesia	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0100660	HP:0100660	Dyskinesia	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0100660	HP:0100660	Dyskinesia	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100660	HP:0100660	Dyskinesia	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0100660	HP:0100660	Dyskinesia	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0100660	HP:0100660	Dyskinesia	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3	.	33
HP:0100660	HP:0100660	Dyskinesia	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0100660	HP:0100660	Dyskinesia	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100660	HP:0100660	Dyskinesia	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0100660	HP:0100660	Dyskinesia	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	4
HP:0100660	HP:0100660	Dyskinesia	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100660	HP:0100660	Dyskinesia	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.	44
HP:0100660	HP:0100660	Dyskinesia	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	44
HP:0100660	HP:0100660	Dyskinesia	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43	.	57
HP:0100660	HP:0100660	Dyskinesia	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	139
HP:0100660	HP:0100660	Dyskinesia	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0100660	HP:0100660	Dyskinesia	0	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0100660	HP:0100660	Dyskinesia	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0100660	HP:0100660	Dyskinesia	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	36
HP:0100660	HP:0100660	Dyskinesia	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.	36
HP:0100660	HP:0100660	Dyskinesia	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0100660	HP:0100660	Dyskinesia	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0100660	HP:0100660	Dyskinesia	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0100660	HP:0100660	Dyskinesia	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.	108
HP:0100660	HP:0100660	Dyskinesia	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27	.	274
HP:0100660	HP:0100660	Dyskinesia	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures	.	274
HP:0100660	HP:0100660	Dyskinesia	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0100660	HP:0100660	Dyskinesia	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	5
HP:0100660	HP:0100660	Dyskinesia	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	54
HP:0100660	HP:0100660	Dyskinesia	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	39
HP:0100660	HP:0100660	Dyskinesia	0	INPP5K CL E G H	51763	33882	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	7
HP:0100660	HP:0100660	Dyskinesia	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0100660	HP:0100660	Dyskinesia	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0100660	HP:0100660	Dyskinesia	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	145
HP:0100660	HP:0100660	Dyskinesia	0	KCNA1 CL E G H	3736	6218	ORPHA:98809	Paroxysmal kinesigenic dyskinesia	HP:0040281 - Very frequent	145
HP:0100660	HP:0100660	Dyskinesia	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0100660	HP:0100660	Dyskinesia	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	65
HP:0100660	HP:0100660	Dyskinesia	0	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	.	114
HP:0100660	HP:0100660	Dyskinesia	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0100660	HP:0100660	Dyskinesia	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0100660	HP:0100660	Dyskinesia	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	196
HP:0100660	HP:0100660	Dyskinesia	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional	191
HP:0100660	HP:0100660	Dyskinesia	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0100660	HP:0100660	Dyskinesia	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	221
HP:0100660	HP:0100660	Dyskinesia	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0100660	HP:0100660	Dyskinesia	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.	6
HP:0100660	HP:0100660	Dyskinesia	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0100660	HP:0100660	Dyskinesia	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0100660	HP:0100660	Dyskinesia	0	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs		14
HP:0100660	HP:0100660	Dyskinesia	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1819
HP:0100660	HP:0100660	Dyskinesia	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	131
HP:0100660	HP:0100660	Dyskinesia	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0100660	HP:0100660	Dyskinesia	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0100660	HP:0100660	Dyskinesia	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2162
HP:0100660	HP:0100660	Dyskinesia	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	2232
HP:0100660	HP:0100660	Dyskinesia	0	NALCN CL E G H	259232	19082	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	48
HP:0100660	HP:0100660	Dyskinesia	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0100660	HP:0100660	Dyskinesia	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0100660	HP:0100660	Dyskinesia	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0100660	HP:0100660	Dyskinesia	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.	27
HP:0100660	HP:0100660	Dyskinesia	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.	42
HP:0100660	HP:0100660	Dyskinesia	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100660	HP:0100660	Dyskinesia	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0100660	HP:0100660	Dyskinesia	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0100660	HP:0100660	Dyskinesia	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	8
HP:0100660	HP:0100660	Dyskinesia	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100660	HP:0100660	Dyskinesia	0	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration		55
HP:0100660	HP:0100660	Dyskinesia	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0100660	HP:0100660	Dyskinesia	0	PARK7 CL E G H	11315	16369	OMIM:606324	PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7		23
HP:0100660	HP:0100660	Dyskinesia	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	23
HP:0100660	HP:0100660	Dyskinesia	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	14
HP:0100660	HP:0100660	Dyskinesia	0	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset		5
HP:0100660	HP:0100660	Dyskinesia	0	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement		5
HP:0100660	HP:0100660	Dyskinesia	0	PDGFB CL E G H	5155	8800	OMIM:615483	Basal ganglia calcification, idiopathic, 5	.	9
HP:0100660	HP:0100660	Dyskinesia	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0100660	HP:0100660	Dyskinesia	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0100660	HP:0100660	Dyskinesia	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0100660	HP:0100660	Dyskinesia	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	162
HP:0100660	HP:0100660	Dyskinesia	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0100660	HP:0100660	Dyskinesia	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	55
HP:0100660	HP:0100660	Dyskinesia	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0100660	HP:0100660	Dyskinesia	0	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form		60
HP:0100660	HP:0100660	Dyskinesia	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	56
HP:0100660	HP:0100660	Dyskinesia	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	1121
HP:0100660	HP:0100660	Dyskinesia	0	PNKD CL E G H	25953	9153	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional	66
HP:0100660	HP:0100660	Dyskinesia	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	244
HP:0100660	HP:0100660	Dyskinesia	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0100660	HP:0100660	Dyskinesia	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13		60
HP:0100660	HP:0100660	Dyskinesia	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	6
HP:0100660	HP:0100660	Dyskinesia	0	POLR3K CL E G H	51728	14121	OMIM:619310	LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0100660	HP:0100660	Dyskinesia	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	2
HP:0100660	HP:0100660	Dyskinesia	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	138
HP:0100660	HP:0100660	Dyskinesia	0	PRKRA CL E G H	8575	9438	OMIM:612067	Dystonia 16	.	37
HP:0100660	HP:0100660	Dyskinesia	0	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16		37
HP:0100660	HP:0100660	Dyskinesia	0	PRRT2 CL E G H	112476	30500	OMIM:128200	Episodic kinesigenic dyskinesia 1		94
HP:0100660	HP:0100660	Dyskinesia	0	PRRT2 CL E G H	112476	30500	ORPHA:98809	Paroxysmal kinesigenic dyskinesia	HP:0040281 - Very frequent	94
HP:0100660	HP:0100660	Dyskinesia	0	PRRT2 CL E G H	112476	30500	ORPHA:98810	Paroxysmal non-kinesigenic dyskinesia	HP:0040283 - Occasional	94
HP:0100660	HP:0100660	Dyskinesia	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0100660	HP:0100660	Dyskinesia	0	RAB39B CL E G H	116442	16499	OMIM:311510	Waisman syndrome	.	34
HP:0100660	HP:0100660	Dyskinesia	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	1
HP:0100660	HP:0100660	Dyskinesia	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	126
HP:0100660	HP:0100660	Dyskinesia	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	427
HP:0100660	HP:0100660	Dyskinesia	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	70
HP:0100660	HP:0100660	Dyskinesia	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	357
HP:0100660	HP:0100660	Dyskinesia	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0100660	HP:0100660	Dyskinesia	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional	48
HP:0100660	HP:0100660	Dyskinesia	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	11
HP:0100660	HP:0100660	Dyskinesia	0	SIL1 CL E G H	64374	24624	ORPHA:559	Marinesco-Sjögren syndrome	HP:0040282 - Frequent	67
HP:0100660	HP:0100660	Dyskinesia	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	73
HP:0100660	HP:0100660	Dyskinesia	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040284 - Very rare	57
HP:0100660	HP:0100660	Dyskinesia	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease		2
HP:0100660	HP:0100660	Dyskinesia	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	3
HP:0100660	HP:0100660	Dyskinesia	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0100660	HP:0100660	Dyskinesia	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	166
HP:0100660	HP:0100660	Dyskinesia	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0100660	HP:0100660	Dyskinesia	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.	255
HP:0100660	HP:0100660	Dyskinesia	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.	255
HP:0100660	HP:0100660	Dyskinesia	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome	.	1
HP:0100660	HP:0100660	Dyskinesia	0	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf		24
HP:0100660	HP:0100660	Dyskinesia	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100660	HP:0100660	Dyskinesia	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0100660	HP:0100660	Dyskinesia	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0100660	HP:0100660	Dyskinesia	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism		13
HP:0100660	HP:0100660	Dyskinesia	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1	.	13
HP:0100660	HP:0100660	Dyskinesia	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0100660	HP:0100660	Dyskinesia	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	65
HP:0100660	HP:0100660	Dyskinesia	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		62
HP:0100660	HP:0100660	Dyskinesia	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0100660	HP:0100660	Dyskinesia	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA		40
HP:0100660	HP:0100660	Dyskinesia	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0100660	HP:0100660	Dyskinesia	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	108
HP:0100660	HP:0100660	Dyskinesia	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	9
HP:0100660	HP:0100660	Dyskinesia	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	9
HP:0100660	HP:0100660	Dyskinesia	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.	1
HP:0100660	HP:0100660	Dyskinesia	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	123
HP:0100660	HP:0100660	Dyskinesia	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional	253
HP:0100660	HP:0100660	Dyskinesia	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5	.	171
HP:0100660	HP:0100660	Dyskinesia	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100660	HP:0100660	Dyskinesia	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional	1
HP:0100660	HP:0100660	Dyskinesia	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0100660	HP:0100660	Dyskinesia	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0100660	HP:0100660	Dyskinesia	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A		102
HP:0100660	HP:0100660	Dyskinesia	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	13
HP:0100660	HP:0100660	Dyskinesia	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	21
HP:0100660	HP:0100660	Dyskinesia	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	HP:0040283 - Occasional	23
HP:0100660	HP:0100660	Dyskinesia	0	UNC80 CL E G H	285175	26582	ORPHA:371364	Hypotonia-speech impairment-severe cognitive delay syndrome	HP:0040282 - Frequent	23
HP:0100660	HP:0100660	Dyskinesia	0	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS		130
HP:0100660	HP:0100660	Dyskinesia	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040282 - Frequent	8
HP:0100660	HP:0100660	Dyskinesia	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37
HP:0100660	HP:0100660	Dyskinesia	0	VPS35 CL E G H	55737	13487	OMIM:614203	Parkinson disease 17	.	37
HP:0100660	HP:0100660	Dyskinesia	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3		2
HP:0100660	HP:0100660	Dyskinesia	0	WIPI2 CL E G H	26100	32225	OMIM:618453	Intellectual developmental disorder with short stature and variable skeletal anomalies
HP:0100660	HP:0100660	Dyskinesia	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional	149
HP:0100660	HP:0100660	Dyskinesia	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.	8
HP:0100660	HP:0100660	Dyskinesia	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0100660	HP:0100660	Dyskinesia	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0100660	HP:0040141	Tardive dyskinesia	1	CL E G H
HP:0100660	HP:0002310	Orofacial dyskinesia	1	AARS1 CL E G H	16	20	OMIM:616339	Epileptic encephalopathy, early infantile, 29
HP:0100660	HP:0007308	Extrapyramidal dyskinesia	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional	91
HP:0100660	HP:0002310	Orofacial dyskinesia	1	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040281 - Very frequent	25
HP:0100660	HP:0002310	Orofacial dyskinesia	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.	8
HP:0100660	HP:0002310	Orofacial dyskinesia	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent	8
HP:0100660	HP:0007308	Extrapyramidal dyskinesia	1	C9ORF72 CL E G H	203228	28337	OMIM:105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	.	56
HP:0100660	HP:0002310	Orofacial dyskinesia	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0100660	HP:0002310	Orofacial dyskinesia	1	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0100660	HP:0002310	Orofacial dyskinesia	1	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0100660	HP:0002310	Orofacial dyskinesia	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0100660	HP:0007308	Extrapyramidal dyskinesia	1	DPYS CL E G H	1807	3013	OMIM:222748	Dihydropyrimidinuria	.	44
HP:0100660	HP:0002310	Orofacial dyskinesia	1	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0100660	HP:0002310	Orofacial dyskinesia	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant		47
HP:0100660	HP:0002310	Orofacial dyskinesia	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0100660	HP:0002310	Orofacial dyskinesia	1	GBA2 CL E G H	57704	18986	OMIM:614409	Spastic paraplegia 46, autosomal recessive		30
HP:0100660	HP:0002310	Orofacial dyskinesia	1	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.	36
HP:0100660	HP:0002310	Orofacial dyskinesia	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0100660	HP:0002310	Orofacial dyskinesia	1	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0100660	HP:0002310	Orofacial dyskinesia	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional	191
HP:0100660	HP:0002310	Orofacial dyskinesia	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs		14
HP:0100660	HP:0002310	Orofacial dyskinesia	1	MICU1 CL E G H	10367	1530	ORPHA:401768	Proximal myopathy with extrapyramidal signs	HP:0040282 - Frequent	14
HP:0100660	HP:0002310	Orofacial dyskinesia	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0100660	HP:0002310	Orofacial dyskinesia	1	PANK2 CL E G H	80025	15894	OMIM:607236	Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	.	55
HP:0100660	HP:0002310	Orofacial dyskinesia	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0100660	HP:0002310	Orofacial dyskinesia	1	PDE10A CL E G H	10846	8772	OMIM:616921	Dyskinesia, limb and orofacial, infantile-onset	.	5
HP:0100660	HP:0002310	Orofacial dyskinesia	1	PDE10A CL E G H	10846	8772	ORPHA:494526	Infantile-onset generalized dyskinesia with orofacial involvement	HP:0040281 - Very frequent	5
HP:0100660	HP:0002310	Orofacial dyskinesia	1	PLP1 CL E G H	5354	9086	ORPHA:280219	Pelizaeus-Merzbacher disease, classic form	HP:0040283 - Occasional	60
HP:0100660	HP:0002310	Orofacial dyskinesia	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional	60
HP:0100660	HP:0002310	Orofacial dyskinesia	1	PRKRA CL E G H	8575	9438	ORPHA:210571	Dystonia 16	HP:0040282 - Frequent	37
HP:0100660	HP:0002310	Orofacial dyskinesia	1	PRRT2 CL E G H	112476	30500	OMIM:128200	Episodic kinesigenic dyskinesia 1	.	94
HP:0100660	HP:0002310	Orofacial dyskinesia	1	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0100660	HP:0007308	Extrapyramidal dyskinesia	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040282 - Frequent	255
HP:0100660	HP:0002310	Orofacial dyskinesia	1	SLC35A1 CL E G H	10559	11021	OMIM:603585	Congenital disorder of glycosylation, type IIf	.	24
HP:0100660	HP:0002310	Orofacial dyskinesia	1	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent	13
HP:0100660	HP:0007308	Extrapyramidal dyskinesia	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0100660	HP:0007308	Extrapyramidal dyskinesia	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	102
HP:0100660	HP:0002310	Orofacial dyskinesia	1	VPS13A CL E G H	23230	1908	OMIM:200150	CHOREOACANTHOCYTOSIS	.	130