Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001336	HP:0001336	Myoclonus	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0001336	HP:0001336	Myoclonus	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0001336	HP:0001336	Myoclonus	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001336	HP:0001336	Myoclonus	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		116
HP:0001336	HP:0001336	Myoclonus	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0001336	HP:0001336	Myoclonus	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0001336	HP:0001336	Myoclonus	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040282 - Frequent		25
HP:0001336	HP:0001336	Myoclonus	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0001336	HP:0001336	Myoclonus	0	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent		3
HP:0001336	HP:0001336	Myoclonus	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.		118
HP:0001336	HP:0001336	Myoclonus	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0001336	HP:0001336	Myoclonus	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0001336	HP:0001336	Myoclonus	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.		86
HP:0001336	HP:0001336	Myoclonus	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0001336	HP:0001336	Myoclonus	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		19
HP:0001336	HP:0001336	Myoclonus	0	AMT CL E G H	275	473	OMIM:605899	Glycine encephalopathy	.		56
HP:0001336	HP:0001336	Myoclonus	0	ANO3 CL E G H	63982	14004	ORPHA:420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	HP:0040283 - Occasional		17
HP:0001336	HP:0001336	Myoclonus	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0001336	HP:0001336	Myoclonus	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0001336	HP:0001336	Myoclonus	0	AP5Z1 CL E G H	9907	22197	ORPHA:306511	Autosomal recessive spastic paraplegia type 48	HP:0040282 - Frequent		165
HP:0001336	HP:0001336	Myoclonus	0	APOE CL E G H	348	613	OMIM:607822	Alzheimer disease 3	.		39
HP:0001336	HP:0001336	Myoclonus	0	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type	HP:0040281 - Very frequent		74
HP:0001336	HP:0001336	Myoclonus	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		74
HP:0001336	HP:0001336	Myoclonus	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001336	HP:0001336	Myoclonus	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0001336	HP:0001336	Myoclonus	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		166
HP:0001336	HP:0001336	Myoclonus	0	ARX CL E G H	170302	18060	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		166
HP:0001336	HP:0001336	Myoclonus	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0001336	HP:0001336	Myoclonus	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0001336	HP:0001336	Myoclonus	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040281 - Very frequent		78
HP:0001336	HP:0001336	Myoclonus	0	ATAD1 CL E G H	84896	25903	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent
HP:0001336	HP:0001336	Myoclonus	0	ATAD1 CL E G H	84896	25903	OMIM:618011	Hyperekplexia 4	.
HP:0001336	HP:0001336	Myoclonus	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0001336	HP:0001336	Myoclonus	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent		16
HP:0001336	HP:0001336	Myoclonus	0	ATN1 CL E G H	1822	3033	OMIM:125370	Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia			16
HP:0001336	HP:0001336	Myoclonus	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040282 - Frequent		100
HP:0001336	HP:0001336	Myoclonus	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome			100
HP:0001336	HP:0001336	Myoclonus	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent		100
HP:0001336	HP:0001336	Myoclonus	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0001336	HP:0001336	Myoclonus	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0001336	HP:0001336	Myoclonus	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0001336	HP:0001336	Myoclonus	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0001336	HP:0001336	Myoclonus	0	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0001336	HP:0001336	Myoclonus	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001336	HP:0001336	Myoclonus	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0001336	HP:0001336	Myoclonus	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0001336	HP:0001336	Myoclonus	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0001336	HP:0001336	Myoclonus	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	HP:0040283 - Occasional		14
HP:0001336	HP:0001336	Myoclonus	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0001336	HP:0001336	Myoclonus	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	.		105
HP:0001336	HP:0001336	Myoclonus	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent		105
HP:0001336	HP:0001336	Myoclonus	0	C9ORF72 CL E G H	203228	28337	ORPHA:401901	Huntington disease-like syndrome due to C9ORF72 expansions	HP:0040284 - Very rare		56
HP:0001336	HP:0001336	Myoclonus	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		449
HP:0001336	HP:0001336	Myoclonus	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0001336	HP:0001336	Myoclonus	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0001336	HP:0001336	Myoclonus	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001336	HP:0001336	Myoclonus	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.		11
HP:0001336	HP:0001336	Myoclonus	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy			75
HP:0001336	HP:0001336	Myoclonus	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0001336	HP:0001336	Myoclonus	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0001336	HP:0001336	Myoclonus	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0001336	HP:0001336	Myoclonus	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy			146
HP:0001336	HP:0001336	Myoclonus	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0001336	HP:0001336	Myoclonus	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		118
HP:0001336	HP:0001336	Myoclonus	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0001336	HP:0001336	Myoclonus	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.		1
HP:0001336	HP:0001336	Myoclonus	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome			405
HP:0001336	HP:0001336	Myoclonus	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0001336	HP:0001336	Myoclonus	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		405
HP:0001336	HP:0001336	Myoclonus	0	CDKL5 CL E G H	6792	11411	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		405
HP:0001336	HP:0001336	Myoclonus	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.		1
HP:0001336	HP:0001336	Myoclonus	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		227
HP:0001336	HP:0001336	Myoclonus	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.		42
HP:0001336	HP:0001336	Myoclonus	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0001336	HP:0001336	Myoclonus	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy
HP:0001336	HP:0001336	Myoclonus	0	CIZ1 CL E G H	25792	16744	ORPHA:420492	Adult-onset cervical dystonia, DYT23 type	HP:0040282 - Frequent		16
HP:0001336	HP:0001336	Myoclonus	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy			44
HP:0001336	HP:0001336	Myoclonus	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0001336	HP:0001336	Myoclonus	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0001336	HP:0001336	Myoclonus	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.		141
HP:0001336	HP:0001336	Myoclonus	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive	.		143
HP:0001336	HP:0001336	Myoclonus	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.		111
HP:0001336	HP:0001336	Myoclonus	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040282 - Frequent		38
HP:0001336	HP:0001336	Myoclonus	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001336	HP:0001336	Myoclonus	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0001336	HP:0001336	Myoclonus	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001336	HP:0001336	Myoclonus	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0001336	HP:0001336	Myoclonus	0	CNPY3 CL E G H	10695	11968	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent
HP:0001336	HP:0001336	Myoclonus	0	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent		9
HP:0001336	HP:0001336	Myoclonus	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional		39
HP:0001336	HP:0001336	Myoclonus	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0001336	HP:0001336	Myoclonus	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001336	HP:0001336	Myoclonus	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional		136
HP:0001336	HP:0001336	Myoclonus	0	COQ8A CL E G H	56997	16812	OMIM:612016	Coenzyme Q10 deficiency, primary, 4	HP:0040283 - Occasional		136
HP:0001336	HP:0001336	Myoclonus	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001336	HP:0001336	Myoclonus	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy			1
HP:0001336	HP:0001336	Myoclonus	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0001336	HP:0001336	Myoclonus	0	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent		51
HP:0001336	HP:0001336	Myoclonus	0	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent		15
HP:0001336	HP:0001336	Myoclonus	0	CTSF CL E G H	8722	2531	OMIM:615362	Ceroid lipofuscinosis, neuronal, 13	.		20
HP:0001336	HP:0001336	Myoclonus	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001336	HP:0001336	Myoclonus	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0001336	HP:0001336	Myoclonus	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040282 - Frequent		4
HP:0001336	HP:0001336	Myoclonus	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0001336	HP:0001336	Myoclonus	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.		6
HP:0001336	HP:0001336	Myoclonus	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0001336	HP:0001336	Myoclonus	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0001336	HP:0001336	Myoclonus	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001336	HP:0001336	Myoclonus	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant	.		155
HP:0001336	HP:0001336	Myoclonus	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040283 - Occasional		6
HP:0001336	HP:0001336	Myoclonus	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		72
HP:0001336	HP:0001336	Myoclonus	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0001336	HP:0001336	Myoclonus	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0001336	HP:0001336	Myoclonus	0	DRD2 CL E G H	1813	3023	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		16
HP:0001336	HP:0001336	Myoclonus	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001336	HP:0001336	Myoclonus	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0001336	HP:0001336	Myoclonus	0	EFHC1 CL E G H	114327	16406	ORPHA:1941	Juvenile absence epilepsy	HP:0040284 - Very rare		153
HP:0001336	HP:0001336	Myoclonus	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy			153
HP:0001336	HP:0001336	Myoclonus	0	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1			153
HP:0001336	HP:0001336	Myoclonus	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001336	HP:0001336	Myoclonus	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional		83
HP:0001336	HP:0001336	Myoclonus	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0001336	HP:0001336	Myoclonus	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional		36
HP:0001336	HP:0001336	Myoclonus	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.		36
HP:0001336	HP:0001336	Myoclonus	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001336	HP:0001336	Myoclonus	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		36
HP:0001336	HP:0001336	Myoclonus	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001336	HP:0001336	Myoclonus	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001336	HP:0001336	Myoclonus	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.		61
HP:0001336	HP:0001336	Myoclonus	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001336	HP:0001336	Myoclonus	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37	.		4
HP:0001336	HP:0001336	Myoclonus	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0001336	HP:0001336	Myoclonus	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome			5
HP:0001336	HP:0001336	Myoclonus	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001336	HP:0001336	Myoclonus	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy			134
HP:0001336	HP:0001336	Myoclonus	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		134
HP:0001336	HP:0001336	Myoclonus	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy			134
HP:0001336	HP:0001336	Myoclonus	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0001336	HP:0001336	Myoclonus	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.		44
HP:0001336	HP:0001336	Myoclonus	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0001336	HP:0001336	Myoclonus	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy			57
HP:0001336	HP:0001336	Myoclonus	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		57
HP:0001336	HP:0001336	Myoclonus	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy			10
HP:0001336	HP:0001336	Myoclonus	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy			139
HP:0001336	HP:0001336	Myoclonus	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		139
HP:0001336	HP:0001336	Myoclonus	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0001336	HP:0001336	Myoclonus	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0001336	HP:0001336	Myoclonus	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2	.		91
HP:0001336	HP:0001336	Myoclonus	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0001336	HP:0001336	Myoclonus	0	GCSH CL E G H	2653	4208	OMIM:605899	Glycine encephalopathy	.		5
HP:0001336	HP:0001336	Myoclonus	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0001336	HP:0001336	Myoclonus	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0001336	HP:0001336	Myoclonus	0	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0001336	HP:0001336	Myoclonus	0	GLDC CL E G H	2731	4313	OMIM:605899	Glycine encephalopathy	.		166
HP:0001336	HP:0001336	Myoclonus	0	GLRA1 CL E G H	2741	4326	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		63
HP:0001336	HP:0001336	Myoclonus	0	GLRA1 CL E G H	2741	4326	OMIM:149400	Hyperekplexia 1	.		63
HP:0001336	HP:0001336	Myoclonus	0	GLRB CL E G H	2743	4329	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		46
HP:0001336	HP:0001336	Myoclonus	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2	.		46
HP:0001336	HP:0001336	Myoclonus	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040283 - Occasional		17
HP:0001336	HP:0001336	Myoclonus	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA	.		6
HP:0001336	HP:0001336	Myoclonus	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional		6
HP:0001336	HP:0001336	Myoclonus	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0001336	HP:0001336	Myoclonus	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		36
HP:0001336	HP:0001336	Myoclonus	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0001336	HP:0001336	Myoclonus	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0001336	HP:0001336	Myoclonus	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0001336	HP:0001336	Myoclonus	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0001336	HP:0001336	Myoclonus	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6	.		88
HP:0001336	HP:0001336	Myoclonus	0	GPHN CL E G H	10243	15465	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		18
HP:0001336	HP:0001336	Myoclonus	0	GPHN CL E G H	10243	15465	OMIM:149400	Hyperekplexia 1	.		18
HP:0001336	HP:0001336	Myoclonus	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94			30
HP:0001336	HP:0001336	Myoclonus	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0001336	HP:0001336	Myoclonus	0	GRIK2 CL E G H	2898	4580	OMIM:611092	Mental retardation, autosomal recessive 6	HP:0040283 - Occasional		32
HP:0001336	HP:0001336	Myoclonus	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0001336	HP:0001336	Myoclonus	0	GRIN1 CL E G H	2902	4584	OMIM:619814	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101			108
HP:0001336	HP:0001336	Myoclonus	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0001336	HP:0001336	Myoclonus	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	.		108
HP:0001336	HP:0001336	Myoclonus	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional		434
HP:0001336	HP:0001336	Myoclonus	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0001336	HP:0001336	Myoclonus	0	GRIN2B CL E G H	2904	4586	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		274
HP:0001336	HP:0001336	Myoclonus	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001336	HP:0001336	Myoclonus	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001336	HP:0001336	Myoclonus	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40	.		2
HP:0001336	HP:0001336	Myoclonus	0	GUF1 CL E G H	60558	25799	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		2
HP:0001336	HP:0001336	Myoclonus	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0001336	HP:0001336	Myoclonus	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0001336	HP:0001336	Myoclonus	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.		32
HP:0001336	HP:0001336	Myoclonus	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0001336	HP:0001336	Myoclonus	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0001336	HP:0001336	Myoclonus	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.		35
HP:0001336	HP:0001336	Myoclonus	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0001336	HP:0001336	Myoclonus	0	HTT CL E G H	3064	4851	ORPHA:399	Huntington disease	HP:0040282 - Frequent		12
HP:0001336	HP:0001336	Myoclonus	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040283 - Occasional		12
HP:0001336	HP:0001336	Myoclonus	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0001336	HP:0001336	Myoclonus	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent		1
HP:0001336	HP:0001336	Myoclonus	0	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001336	HP:0001336	Myoclonus	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy
HP:0001336	HP:0001336	Myoclonus	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy
HP:0001336	HP:0001336	Myoclonus	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		145
HP:0001336	HP:0001336	Myoclonus	0	KCNA2 CL E G H	3737	6220	OMIM:616366	Epileptic encephalopathy, early infantile, 32	.		13
HP:0001336	HP:0001336	Myoclonus	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0001336	HP:0001336	Myoclonus	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0001336	HP:0001336	Myoclonus	0	KCNC1 CL E G H	3746	6233	OMIM:616187	Epilepsy, progressive myoclonic 7	.		6
HP:0001336	HP:0001336	Myoclonus	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0001336	HP:0001336	Myoclonus	0	KCNC3 CL E G H	3748	6235	OMIM:605259	Spinocerebellar ataxia 13			17
HP:0001336	HP:0001336	Myoclonus	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040283 - Occasional		17
HP:0001336	HP:0001336	Myoclonus	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.		35
HP:0001336	HP:0001336	Myoclonus	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0001336	HP:0001336	Myoclonus	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001336	HP:0001336	Myoclonus	0	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy			528
HP:0001336	HP:0001336	Myoclonus	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy			528
HP:0001336	HP:0001336	Myoclonus	0	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy			302
HP:0001336	HP:0001336	Myoclonus	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy			302
HP:0001336	HP:0001336	Myoclonus	0	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy			302
HP:0001336	HP:0001336	Myoclonus	0	KCTD17 CL E G H	79734	25705	OMIM:616398	Dystonia 26, myoclonic	.		1
HP:0001336	HP:0001336	Myoclonus	0	KCTD17 CL E G H	79734	25705	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		1
HP:0001336	HP:0001336	Myoclonus	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040282 - Frequent		106
HP:0001336	HP:0001336	Myoclonus	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.		202
HP:0001336	HP:0001336	Myoclonus	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0001336	HP:0001336	Myoclonus	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0001336	HP:0001336	Myoclonus	0	KMT2B CL E G H	9757	15840	OMIM:617284	Dystonia 28, childhood-onset	HP:0040283 - Occasional		11
HP:0001336	HP:0001336	Myoclonus	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0001336	HP:0001336	Myoclonus	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20			1
HP:0001336	HP:0001336	Myoclonus	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.		11
HP:0001336	HP:0001336	Myoclonus	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		61
HP:0001336	HP:0001336	Myoclonus	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome			140
HP:0001336	HP:0001336	Myoclonus	0	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent
HP:0001336	HP:0001336	Myoclonus	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.	HP:0003581 - Adult onset
HP:0001336	HP:0001336	Myoclonus	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome			950
HP:0001336	HP:0001336	Myoclonus	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.		950
HP:0001336	HP:0001336	Myoclonus	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.		6
HP:0001336	HP:0001336	Myoclonus	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0001336	HP:0001336	Myoclonus	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional		3
HP:0001336	HP:0001336	Myoclonus	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A			96
HP:0001336	HP:0001336	Myoclonus	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0001336	HP:0001336	Myoclonus	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional		532
HP:0001336	HP:0001336	Myoclonus	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		68
HP:0001336	HP:0001336	Myoclonus	0	MTPAP CL E G H	55149	25532	ORPHA:254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	HP:0040282 - Frequent		19
HP:0001336	HP:0001336	Myoclonus	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040282 - Frequent		47
HP:0001336	HP:0001336	Myoclonus	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0001336	HP:0001336	Myoclonus	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001336	HP:0001336	Myoclonus	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001336	HP:0001336	Myoclonus	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0001336	HP:0001336	Myoclonus	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.		31
HP:0001336	HP:0001336	Myoclonus	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4	.		74
HP:0001336	HP:0001336	Myoclonus	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001336	HP:0001336	Myoclonus	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0001336	HP:0001336	Myoclonus	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0001336	HP:0001336	Myoclonus	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0001336	HP:0001336	Myoclonus	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0001336	HP:0001336	Myoclonus	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0001336	HP:0001336	Myoclonus	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	.
HP:0001336	HP:0001336	Myoclonus	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0001336	HP:0001336	Myoclonus	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0001336	HP:0001336	Myoclonus	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation	.		32
HP:0001336	HP:0001336	Myoclonus	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional		77
HP:0001336	HP:0001336	Myoclonus	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0001336	HP:0001336	Myoclonus	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001336	HP:0001336	Myoclonus	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0001336	HP:0001336	Myoclonus	0	NOL3 CL E G H	8996	7869	OMIM:614937	Myoclonus, familial cortical	.		1
HP:0001336	HP:0001336	Myoclonus	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0001336	HP:0001336	Myoclonus	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome			1
HP:0001336	HP:0001336	Myoclonus	0	NTRK2 CL E G H	4915	8032	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		8
HP:0001336	HP:0001336	Myoclonus	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0001336	HP:0001336	Myoclonus	0	NUP214 CL E G H	8021	8064	OMIM:618426	Encephalopathy, acute, infection-induced, susceptibility to, 9	.		1
HP:0001336	HP:0001336	Myoclonus	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		7
HP:0001336	HP:0001336	Myoclonus	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001336	HP:0001336	Myoclonus	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		121
HP:0001336	HP:0001336	Myoclonus	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0001336	HP:0001336	Myoclonus	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		225
HP:0001336	HP:0001336	Myoclonus	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0001336	HP:0001336	Myoclonus	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0001336	HP:0001336	Myoclonus	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0001336	HP:0001336	Myoclonus	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0001336	HP:0001336	Myoclonus	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0001336	HP:0001336	Myoclonus	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0001336	HP:0001336	Myoclonus	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0001336	HP:0001336	Myoclonus	0	PHACTR1 CL E G H	221692	20990	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		1
HP:0001336	HP:0001336	Myoclonus	0	PIGA CL E G H	5277	8957	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		46
HP:0001336	HP:0001336	Myoclonus	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0001336	HP:0001336	Myoclonus	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0001336	HP:0001336	Myoclonus	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0001336	HP:0001336	Myoclonus	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001336	HP:0001336	Myoclonus	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001336	HP:0001336	Myoclonus	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0001336	HP:0001336	Myoclonus	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0001336	HP:0001336	Myoclonus	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0001336	HP:0001336	Myoclonus	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		162
HP:0001336	HP:0001336	Myoclonus	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0001336	HP:0001336	Myoclonus	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040283 - Occasional		133
HP:0001336	HP:0001336	Myoclonus	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0001336	HP:0001336	Myoclonus	0	PLCB1 CL E G H	23236	15917	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		119
HP:0001336	HP:0001336	Myoclonus	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.		6
HP:0001336	HP:0001336	Myoclonus	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		244
HP:0001336	HP:0001336	Myoclonus	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0001336	HP:0001336	Myoclonus	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0001336	HP:0001336	Myoclonus	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040283 - Occasional		6
HP:0001336	HP:0001336	Myoclonus	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent		464
HP:0001336	HP:0001336	Myoclonus	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0001336	HP:0001336	Myoclonus	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0001336	HP:0001336	Myoclonus	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		464
HP:0001336	HP:0001336	Myoclonus	0	POLR1C CL E G H	9533	20194	OMIM:616494	Leukodystrophy, hypomyelinating, 11			38
HP:0001336	HP:0001336	Myoclonus	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0001336	HP:0001336	Myoclonus	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001336	HP:0001336	Myoclonus	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0001336	HP:0001336	Myoclonus	0	PRDM8 CL E G H	56978	13993	ORPHA:324290	Early-onset Lafora body disease	HP:0040281 - Very frequent		1
HP:0001336	HP:0001336	Myoclonus	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0001336	HP:0001336	Myoclonus	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0001336	HP:0001336	Myoclonus	0	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent		133
HP:0001336	HP:0001336	Myoclonus	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional		83
HP:0001336	HP:0001336	Myoclonus	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0001336	HP:0001336	Myoclonus	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.		69
HP:0001336	HP:0001336	Myoclonus	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0001336	HP:0001336	Myoclonus	0	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome			69
HP:0001336	HP:0001336	Myoclonus	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0001336	HP:0001336	Myoclonus	0	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy			94
HP:0001336	HP:0001336	Myoclonus	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.		81
HP:0001336	HP:0001336	Myoclonus	0	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency	HP:0040281 - Very frequent		81
HP:0001336	HP:0001336	Myoclonus	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0001336	HP:0001336	Myoclonus	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0001336	HP:0001336	Myoclonus	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0001336	HP:0001336	Myoclonus	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional		27
HP:0001336	HP:0001336	Myoclonus	0	PSEN1 CL E G H	5663	9508	OMIM:607822	Alzheimer disease 3	.		241
HP:0001336	HP:0001336	Myoclonus	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		241
HP:0001336	HP:0001336	Myoclonus	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		59
HP:0001336	HP:0001336	Myoclonus	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001336	HP:0001336	Myoclonus	0	PTS CL E G H	5805	9689	ORPHA:13	6-pyruvoyl-tetrahydropterin synthase deficiency	HP:0040283 - Occasional		19
HP:0001336	HP:0001336	Myoclonus	0	PURA CL E G H	5813	9701	OMIM:616158	Mental retardation, autosomal dominant 31	.		53
HP:0001336	HP:0001336	Myoclonus	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional		53
HP:0001336	HP:0001336	Myoclonus	0	QDPR CL E G H	5860	9752	OMIM:261630	Hyperphenylalaninemia, bh4-deficient, C	.		43
HP:0001336	HP:0001336	Myoclonus	0	RAPGEF2 CL E G H	9693	16854	OMIM:618075	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0001336	HP:0001336	Myoclonus	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0001336	HP:0001336	Myoclonus	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	HP:0040283 - Occasional		26
HP:0001336	HP:0001336	Myoclonus	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0001336	HP:0001336	Myoclonus	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.		3
HP:0001336	HP:0001336	Myoclonus	0	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent		2
HP:0001336	HP:0001336	Myoclonus	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001336	HP:0001336	Myoclonus	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0001336	HP:0001336	Myoclonus	0	SCARB2 CL E G H	950	1665	OMIM:254900	Epilepsy, progressive myoclonic, 4, with or without renal failure	.		77
HP:0001336	HP:0001336	Myoclonus	0	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent		77
HP:0001336	HP:0001336	Myoclonus	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0001336	HP:0001336	Myoclonus	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		1053
HP:0001336	HP:0001336	Myoclonus	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		1053
HP:0001336	HP:0001336	Myoclonus	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		126
HP:0001336	HP:0001336	Myoclonus	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		126
HP:0001336	HP:0001336	Myoclonus	0	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy			427
HP:0001336	HP:0001336	Myoclonus	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		427
HP:0001336	HP:0001336	Myoclonus	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		427
HP:0001336	HP:0001336	Myoclonus	0	SCN2A CL E G H	6326	10588	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		427
HP:0001336	HP:0001336	Myoclonus	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0001336	HP:0001336	Myoclonus	0	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy			357
HP:0001336	HP:0001336	Myoclonus	0	SCN8A CL E G H	6334	10596	OMIM:618364	MYOCLONUS, FAMILIAL, 2; MYOCL2			357
HP:0001336	HP:0001336	Myoclonus	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0001336	HP:0001336	Myoclonus	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		318
HP:0001336	HP:0001336	Myoclonus	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0001336	HP:0001336	Myoclonus	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001336	HP:0001336	Myoclonus	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001336	HP:0001336	Myoclonus	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.		28
HP:0001336	HP:0001336	Myoclonus	0	SGCE CL E G H	8910	10808	OMIM:159900	Dystonia 11, myoclonic	.		49
HP:0001336	HP:0001336	Myoclonus	0	SGCE CL E G H	8910	10808	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		49
HP:0001336	HP:0001336	Myoclonus	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		11
HP:0001336	HP:0001336	Myoclonus	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040281 - Very frequent		11
HP:0001336	HP:0001336	Myoclonus	0	SIK1 CL E G H	150094	11142	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		11
HP:0001336	HP:0001336	Myoclonus	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0001336	HP:0001336	Myoclonus	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001336	HP:0001336	Myoclonus	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome			4
HP:0001336	HP:0001336	Myoclonus	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0001336	HP:0001336	Myoclonus	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001336	HP:0001336	Myoclonus	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		166
HP:0001336	HP:0001336	Myoclonus	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040281 - Very frequent		166
HP:0001336	HP:0001336	Myoclonus	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0001336	HP:0001336	Myoclonus	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0001336	HP:0001336	Myoclonus	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy			255
HP:0001336	HP:0001336	Myoclonus	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040283 - Occasional		255
HP:0001336	HP:0001336	Myoclonus	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0001336	HP:0001336	Myoclonus	0	SLC2A3 CL E G H	6515	11007	ORPHA:399	Huntington disease	HP:0040282 - Frequent		1
HP:0001336	HP:0001336	Myoclonus	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy			29
HP:0001336	HP:0001336	Myoclonus	0	SLC6A5 CL E G H	9152	11051	ORPHA:3197	Hereditary hyperekplexia	HP:0040281 - Very frequent		81
HP:0001336	HP:0001336	Myoclonus	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0001336	HP:0001336	Myoclonus	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0001336	HP:0001336	Myoclonus	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0001336	HP:0001336	Myoclonus	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0001336	HP:0001336	Myoclonus	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome			135
HP:0001336	HP:0001336	Myoclonus	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0001336	HP:0001336	Myoclonus	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0001336	HP:0001336	Myoclonus	0	SNCA CL E G H	6622	11138	OMIM:168601	Parkinson disease 1, autosomal dominant	.		65
HP:0001336	HP:0001336	Myoclonus	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent		65
HP:0001336	HP:0001336	Myoclonus	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		3
HP:0001336	HP:0001336	Myoclonus	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0001336	HP:0001336	Myoclonus	0	SPTAN1 CL E G H	6709	11273	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		416
HP:0001336	HP:0001336	Myoclonus	0	ST3GAL3 CL E G H	6487	10866	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		41
HP:0001336	HP:0001336	Myoclonus	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0001336	HP:0001336	Myoclonus	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0001336	HP:0001336	Myoclonus	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0001336	HP:0001336	Myoclonus	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0001336	HP:0001336	Myoclonus	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0001336	HP:0001336	Myoclonus	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0001336	HP:0001336	Myoclonus	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0001336	HP:0001336	Myoclonus	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040283 - Occasional		9
HP:0001336	HP:0001336	Myoclonus	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0001336	HP:0001336	Myoclonus	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0001336	HP:0001336	Myoclonus	0	TAF1 CL E G H	6872	11535	OMIM:314250	Dystonia 3, torsion, X-linked	.		21
HP:0001336	HP:0001336	Myoclonus	0	TAF1 CL E G H	6872	11535	ORPHA:53351	X-linked dystonia-parkinsonism	HP:0040282 - Frequent		21
HP:0001336	HP:0001336	Myoclonus	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0001336	HP:0001336	Myoclonus	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp	.		271
HP:0001336	HP:0001336	Myoclonus	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.		271
HP:0001336	HP:0001336	Myoclonus	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy			271
HP:0001336	HP:0001336	Myoclonus	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040281 - Very frequent		271
HP:0001336	HP:0001336	Myoclonus	0	TBP CL E G H	6908	11588	OMIM:607136	Spinocerebellar ataxia 17	.		7
HP:0001336	HP:0001336	Myoclonus	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0001336	HP:0001336	Myoclonus	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0001336	HP:0001336	Myoclonus	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive			80
HP:0001336	HP:0001336	Myoclonus	0	THAP1 CL E G H	55145	20856	OMIM:602629	Dystonia 6, torsion	HP:0040283 - Occasional		42
HP:0001336	HP:0001336	Myoclonus	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31			1
HP:0001336	HP:0001336	Myoclonus	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent		33
HP:0001336	HP:0001336	Myoclonus	0	TNRC6A CL E G H	27327	11969	OMIM:618074	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0001336	HP:0001336	Myoclonus	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040283 - Occasional		6
HP:0001336	HP:0001336	Myoclonus	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.		6
HP:0001336	HP:0001336	Myoclonus	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent
HP:0001336	HP:0001336	Myoclonus	0	TOR1A CL E G H	1861	3098	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		47
HP:0001336	HP:0001336	Myoclonus	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.		203
HP:0001336	HP:0001336	Myoclonus	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0001336	HP:0001336	Myoclonus	0	TRAK1 CL E G H	22906	29947	OMIM:618201	Epileptic encephalopathy, early infantile, 68	.
HP:0001336	HP:0001336	Myoclonus	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent		2
HP:0001336	HP:0001336	Myoclonus	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0001336	HP:0001336	Myoclonus	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040281 - Very frequent		31
HP:0001336	HP:0001336	Myoclonus	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0001336	HP:0001336	Myoclonus	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001336	HP:0001336	Myoclonus	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0001336	HP:0001336	Myoclonus	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0001336	HP:0001336	Myoclonus	0	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0001336	HP:0001336	Myoclonus	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0001336	HP:0001336	Myoclonus	0	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0001336	HP:0001336	Myoclonus	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0001336	HP:0001336	Myoclonus	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent		102
HP:0001336	HP:0001336	Myoclonus	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.		102
HP:0001336	HP:0001336	Myoclonus	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0001336	HP:0001336	Myoclonus	0	TSPYL1 CL E G H	7259	12382	ORPHA:168593	Sudden infant death-dysgenesis of the testes syndrome	HP:0040282 - Frequent		1
HP:0001336	HP:0001336	Myoclonus	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0001336	HP:0001336	Myoclonus	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent		113
HP:0001336	HP:0001336	Myoclonus	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0001336	HP:0001336	Myoclonus	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0001336	HP:0001336	Myoclonus	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0001336	HP:0001336	Myoclonus	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040283 - Occasional		278
HP:0001336	HP:0001336	Myoclonus	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	VPS13D CL E G H	55187	23595	OMIM:607317	Spinocerebellar ataxia, autosomal recessive 4	.
HP:0001336	HP:0001336	Myoclonus	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0001336	HP:0001336	Myoclonus	0	WDR45 CL E G H	11152	28912	ORPHA:3451	Infantile spasms syndrome	HP:0040281 - Very frequent		51
HP:0001336	HP:0001336	Myoclonus	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0001336	HP:0001336	Myoclonus	0	YEATS2 CL E G H	55689	25489	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040281 - Very frequent		1
HP:0001336	HP:0001336	Myoclonus	0	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4	.		1
HP:0001336	HP:0001336	Myoclonus	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0001336	HP:0001336	Myoclonus	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001336	HP:0001336	Myoclonus	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome	.		1
HP:0001336	HP:0012323	Sleep myoclonus	1	CL E G H
HP:0001336	HP:0045084	Limb myoclonus	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0001336	HP:0003739	Myoclonic spasms	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0001336	HP:0025357	Erratic myoclonus	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1			166
HP:0001336	HP:0025097	Eyelid myoclonus	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0001336	HP:0045084	Limb myoclonus	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0001336	HP:0025097	Eyelid myoclonus	1	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0001336	HP:0003739	Myoclonic spasms	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0001336	HP:0025357	Erratic myoclonus	1	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0001336	HP:0003739	Myoclonic spasms	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0001336	HP:0003739	Myoclonic spasms	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0001336	HP:0045084	Limb myoclonus	1	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare		75
HP:0001336	HP:0007000	Morning myoclonic jerks	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	.		146
HP:0001336	HP:0007000	Morning myoclonic jerks	1	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent		146
HP:0001336	HP:0040148	Cortical myoclonus	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent		272
HP:0001336	HP:0045084	Limb myoclonus	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		405
HP:0001336	HP:0034360	Action myoclonus	1	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8			1
HP:0001336	HP:0007000	Morning myoclonic jerks	1	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent
HP:0001336	HP:0007000	Morning myoclonic jerks	1	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent		44
HP:0001336	HP:0045084	Limb myoclonus	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0001336	HP:0007000	Morning myoclonic jerks	1	CSTB CL E G H	1476	2482	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent		51
HP:0001336	HP:0010530	Palatal tremor	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040284 - Very rare		114
HP:0001336	HP:0025097	Eyelid myoclonus	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0001336	HP:0010531	Spinal myoclonus	1	DRD2 CL E G H	1813	3023	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		16
HP:0001336	HP:0045084	Limb myoclonus	1	DRD2 CL E G H	1813	3023	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		16
HP:0001336	HP:0007000	Morning myoclonic jerks	1	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent		153
HP:0001336	HP:0007000	Morning myoclonic jerks	1	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1	.		153
HP:0001336	HP:0025357	Erratic myoclonus	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0001336	HP:0010530	Palatal tremor	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional		33
HP:0001336	HP:0045084	Limb myoclonus	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		5
HP:0001336	HP:0045084	Limb myoclonus	1	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare		134
HP:0001336	HP:0007000	Morning myoclonic jerks	1	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent		134
HP:0001336	HP:0045084	Limb myoclonus	1	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare		57
HP:0001336	HP:0007000	Morning myoclonic jerks	1	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent		10
HP:0001336	HP:0045084	Limb myoclonus	1	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare		139
HP:0001336	HP:0010530	Palatal tremor	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0001336	HP:0010530	Palatal tremor	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0001336	HP:0010530	Palatal tremor	1	GFAP CL E G H	2670	4235	ORPHA:363722	Alexander disease type II			188
HP:0001336	HP:0040148	Cortical myoclonus	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040281 - Very frequent		16
HP:0001336	HP:0003739	Myoclonic spasms	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0001336	HP:0003739	Myoclonic spasms	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0001336	HP:0003739	Myoclonic spasms	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0001336	HP:0025097	Eyelid myoclonus	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0001336	HP:0003739	Myoclonic spasms	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0001336	HP:0031986	Polyminimyoclonus	1	JAG1 CL E G H	182	6188	OMIM:619574	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH			257
HP:0001336	HP:0045084	Limb myoclonus	1	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare
HP:0001336	HP:0007000	Morning myoclonic jerks	1	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent
HP:0001336	HP:0025097	Eyelid myoclonus	1	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0001336	HP:0045084	Limb myoclonus	1	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional		528
HP:0001336	HP:0045084	Limb myoclonus	1	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent		528
HP:0001336	HP:0045084	Limb myoclonus	1	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional		302
HP:0001336	HP:0045084	Limb myoclonus	1	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040282 - Frequent		302
HP:0001336	HP:0007000	Morning myoclonic jerks	1	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040281 - Very frequent		302
HP:0001336	HP:0010531	Spinal myoclonus	1	KCTD17 CL E G H	79734	25705	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		1
HP:0001336	HP:0045084	Limb myoclonus	1	KCTD17 CL E G H	79734	25705	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		1
HP:0001336	HP:0012462	Chin myoclonus	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional		106
HP:0001336	HP:0045084	Limb myoclonus	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional		106
HP:0001336	HP:0025357	Erratic myoclonus	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040282 - Frequent		38
HP:0001336	HP:0045084	Limb myoclonus	1	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent		140
HP:0001336	HP:0045084	Limb myoclonus	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		950
HP:0001336	HP:0003739	Myoclonic spasms	1	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.		96
HP:0001336	HP:0003739	Myoclonic spasms	1	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.		26
HP:0001336	HP:0003739	Myoclonic spasms	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0001336	HP:0025357	Erratic myoclonus	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0001336	HP:0045084	Limb myoclonus	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare		9
HP:0001336	HP:0045084	Limb myoclonus	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		1
HP:0001336	HP:0003739	Myoclonic spasms	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0001336	HP:0040148	Cortical myoclonus	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23			15
HP:0001336	HP:0040148	Cortical myoclonus	1	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional		15
HP:0001336	HP:0003739	Myoclonic spasms	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0001336	HP:0025097	Eyelid myoclonus	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive			133
HP:0001336	HP:0045084	Limb myoclonus	1	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0001336	HP:0007000	Morning myoclonic jerks	1	PRICKLE1 CL E G H	144165	17019	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent		133
HP:0001336	HP:0045084	Limb myoclonus	1	PRNP CL E G H	5621	9449	ORPHA:356	Gerstmann-Straussler-Scheinker syndrome	HP:0040283 - Occasional		69
HP:0001336	HP:0045084	Limb myoclonus	1	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional		94
HP:0001336	HP:0040148	Cortical myoclonus	1	RAPGEF2 CL E G H	9693	16854	OMIM:618075	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0001336	HP:0025097	Eyelid myoclonus	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0001336	HP:0025097	Eyelid myoclonus	1	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.		3
HP:0001336	HP:0007000	Morning myoclonic jerks	1	SCARB2 CL E G H	950	1665	ORPHA:308	Progressive myoclonic epilepsy type 1	HP:0040281 - Very frequent		77
HP:0001336	HP:0045084	Limb myoclonus	1	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional		427
HP:0001336	HP:0045084	Limb myoclonus	1	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional		357
HP:0001336	HP:0045084	Limb myoclonus	1	SCN8A CL E G H	6334	10596	OMIM:618364	MYOCLONUS, FAMILIAL, 2; MYOCL2			357
HP:0001336	HP:0010531	Spinal myoclonus	1	SGCE CL E G H	8910	10808	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		49
HP:0001336	HP:0045084	Limb myoclonus	1	SGCE CL E G H	8910	10808	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		49
HP:0001336	HP:0003739	Myoclonic spasms	1	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0001336	HP:0045084	Limb myoclonus	1	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040284 - Very rare		255
HP:0001336	HP:0025097	Eyelid myoclonus	1	SLC6A1 CL E G H	6529	11042	OMIM:616421	Myoclonic-Atonic epilepsy	.		29
HP:0001336	HP:0003739	Myoclonic spasms	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0001336	HP:0003739	Myoclonic spasms	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0001336	HP:0045084	Limb myoclonus	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent		135
HP:0001336	HP:0003739	Myoclonic spasms	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0001336	HP:0003739	Myoclonic spasms	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0001336	HP:0003739	Myoclonic spasms	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0001336	HP:0045084	Limb myoclonus	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0001336	HP:0003739	Myoclonic spasms	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0001336	HP:0040148	Cortical myoclonus	1	TNRC6A CL E G H	27327	11969	OMIM:618074	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0001336	HP:0010531	Spinal myoclonus	1	TOR1A CL E G H	1861	3098	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		47
HP:0001336	HP:0045084	Limb myoclonus	1	TOR1A CL E G H	1861	3098	ORPHA:36899	Myoclonus-dystonia syndrome	HP:0040281 - Very frequent		47
HP:0001336	HP:0003739	Myoclonic spasms	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0001336	HP:0003739	Myoclonic spasms	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent		1
HP:0001336	HP:0010828	Hemifacial spasm	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0001336	HP:0010828	Hemifacial spasm	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0001336	HP:0010828	Hemifacial spasm	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0001336	HP:0010828	Hemifacial spasm	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0001336	HP:0010828	Hemifacial spasm	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0001336	HP:0010828	Hemifacial spasm	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0001336	HP:0033054	Myoclonic tremor	2	RAPGEF2 CL E G H	9693	16854	OMIM:618075	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0001336	HP:0010828	Hemifacial spasm	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0001336	HP:0010828	Hemifacial spasm	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0001336	HP:0010828	Hemifacial spasm	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0001336	HP:0010828	Hemifacial spasm	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0001336	HP:0010828	Hemifacial spasm	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0001336	HP:0033054	Myoclonic tremor	2	TNRC6A CL E G H	27327	11969	OMIM:618074	EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0001336	HP:0010828	Hemifacial spasm	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare