Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Seizure (HP:0001250)

Parent Node:
Generalized-onset seizure (HP:0002197)

..Starting node
..Generalized myoclonic seizure (HP:0002123)

Term ID:

2123

Name:

Generalized myoclonic seizure

Synonym:

Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalised myoclonic seizures; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonic epilepsy, progressive; Myoclonus seizures

Definition:

A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.

Comments:

Reference:

HP:0002123

Genes and Diseases:

Child Nodes:

........

Photomyoclonic seizures (HP:0001327)

........

Myoclonic atonic seizures (HP:0011170)

Sister Nodes:

Atonic seizure (HP:0010819)

Bilateral tonic-clonic seizure (HP:0002069)

Generalized clonic seizure (HP:0011169)

Generalized non-motor (absence) seizure (HP:0002121)

Generalized tonic seizure (HP:0010818)

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:0002123	HP:0002123	Generalized myoclonic seizure	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional		88
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		530
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.		86
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.		108
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ALDH5A1 CL E G H	7915	408	ORPHA:22	Succinic semialdehyde dehydrogenase deficiency	HP:0040282 - Frequent		108
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1	.		166
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ASAH1 CL E G H	427	735	OMIM:159950	Spinal muscular atrophy with progressive myoclonic epilepsy	.		78
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040282 - Frequent		78
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.		20
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040283 - Occasional		449
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent		35
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		405
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC			227
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040283 - Occasional		227
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		227
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CILK1 CL E G H	22858	21219	OMIM:617924	Epilepsy, juvenile myoclonic, susceptibility to, 10	.
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CLCN2 CL E G H	1181	2020	OMIM:607628	Epilepsy with grand mal seizures on awakening	HP:0040283 - Occasional		44
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CPLX1 CL E G H	10815	2309	OMIM:617976	Epileptic encephalopathy, early infantile, 63	.		1
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040281 - Very frequent		1
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040283 - Occasional
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040283 - Occasional		72
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040283 - Occasional		94
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence	.		153
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	HP:0040283 - Occasional		62
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040282 - Frequent		83
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		5
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		134
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040283 - Occasional		57
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GABRD CL E G H	2563	4084	OMIM:613060	Epilepsy, idiopathic generalized, 10	.		10
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		10
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		139
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		139
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040283 - Occasional		91
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.		120
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C			18
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	.		126
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	HACE1 CL E G H	57531	21033	OMIM:616756	Spastic paraplegia and psychomotor retardation with or without seizures	HP:0040283 - Occasional		10
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040282 - Frequent		10
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		54
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	KCNT2 CL E G H	343450	18866	OMIM:617771	Epileptic encephalopathy, early infantile, 57	.		1
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	.		106
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3			106
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.		1
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	LNPK CL E G H	80856	21610	OMIM:618090	Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	.
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040283 - Occasional		61
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	MBOAT7 CL E G H	79143	15505	OMIM:617188	Mental retardation, autosomal recessive 57	.		5
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		950
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040284 - Very rare		183
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ND5 CL E G H	4540	7461	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.		96
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NDUFA1 CL E G H	4694	7683	OMIM:301020	Mitochondrial complex I deficiency, nuclear type 12	.		7
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98	.		52
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		52
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040282 - Frequent		77
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		1
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent		55
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional		231
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.	HP:0003593 - Infantile onset
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		225
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	.		225
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional		225
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent		12
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.		9
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PRDM8 CL E G H	56978	13993	OMIM:616640	Epilepsy, progressive myoclonic, 10			1
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PRICKLE1 CL E G H	144165	17019	OMIM:612437	Epilepsy, progressive myoclonic 1B	.		133
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040283 - Occasional		948
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	RNR1 CL E G H	4549	7470	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1	.		2
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		1053
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.		1053
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2	.		1053
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		1053
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040283 - Occasional		1053
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		1053
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		126
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN1B CL E G H	6324	10586	OMIM:617350	Epileptic encephalopathy, early infantile, 52	.		126
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		126
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		427
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		427
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		318
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		318
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		66
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67			11
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SIK1 CL E G H	150094	11142	ORPHA:1935	Early myoclonic encephalopathy	HP:0040281 - Very frequent		11
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SLC12A5 CL E G H	57468	13818	OMIM:616685	Epilepsy, idiopathic generalized, susceptibility to, 14	.		8
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040283 - Occasional		88
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SLC25A22 CL E G H	79751	19954	ORPHA:1935	Early myoclonic encephalopathy	HP:0040281 - Very frequent		166
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.		166
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		255
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		29
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040283 - Occasional		135
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional		19
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent		19
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		9
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		108
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040281 - Very frequent		271
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile	.		271
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent		271
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040282 - Frequent		158
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35	.		12
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNF CL E G H	4558	7481	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNF CL E G H	4558	7481	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNH CL E G H	4564	7487	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNI CL E G H	4565	7488	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNK CL E G H	4566	7489	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNK CL E G H	4566	7489	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNL1 CL E G H	4567	7490	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNL1 CL E G H	4567	7490	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNP CL E G H	4571	7494	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNP CL E G H	4571	7494	OMIM:545000	Myoclonic epilepsy associated with ragged-red fibers	.
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNQ CL E G H	4572	7495	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNS1 CL E G H	4574	7497	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNS2 CL E G H	4575	7498	ORPHA:551	MERRF	HP:0040281 - Very frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		3
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		84
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		57
HP:0002123	HP:0002123	Generalized myoclonic seizure	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent		102
HP:0002123	HP:0032678	Eyelid myoclonia seizure	1	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0002123	HP:0001327	Photosensitive myoclonic seizure	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		134
HP:0002123	HP:0001327	Photosensitive myoclonic seizure	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		139
HP:0002123	HP:0001327	Photosensitive myoclonic seizure	1	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional		106
HP:0002123	HP:0001327	Photosensitive myoclonic seizure	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		225
HP:0002123	HP:0001327	Photosensitive myoclonic seizure	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		1053
HP:0002123	HP:0001327	Photosensitive myoclonic seizure	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		126
HP:0002123	HP:0001327	Photosensitive myoclonic seizure	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		427
HP:0002123	HP:0001327	Photosensitive myoclonic seizure	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		318
HP:0002123	HP:0011149	Absence seizure with eyelid myoclonia	2	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60

Genes (136) :ABCC8 ADGRG1 ADGRV1 AFG3L2 ALDH5A1 ALDH7A1 AP2M1 APC2 ARX ASAH1 ATP6 BRAT1 BTD BUB1B CACNA1A CARS2 CDKL5 CHD2 CILK1 CLCN2 CLN8 CPLX1 CUX2 DHDDS DNM1 DNM1L DPAGT1 DPM1 DPM2 DYRK1A EFHC1 ELOVL4 EPM2A GABBR2 GABRA1 GABRB3 GABRD GABRG2 GALC GAMT GBA1 GCK GLB1 GPHN GRIN1 GRN HACE1 HCN1 HYMAI IER3IP1 INS KCNJ11 KCNT2 KCTD7 KNSTRN LNPK MAPK10 MBOAT7 MECP2 MFSD8 MTHFR ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDUFA1 NEU1 NEXMIF NGLY1 NHLRC1 NSD1 NTNG1 NUS1 OPHN1 PAFAH1B1 PCDH12 PCDH19 PDX1 PHGDH PIGA PIGT PIK3CD PLAGL1 PRDM8 PRICKLE1 PSAP PTEN PTRH2 RNR1 SAMD12 SCN1A SCN1B SCN2A SCN9A SDHA SDHAF1 SDHB SDHD SEPSECS SETD2 SIK1 SLC12A5 SLC25A15 SLC25A22 SLC2A1 SLC38A3 SLC6A1 SMC1A SMS SPATA5 STAT3 STX1B STXBP1 SYNGAP1 TANGO2 TBC1D24 TRAPPC9 TRIT1 TRNF TRNH TRNI TRNK TRNL1 TRNP TRNQ TRNS1 TRNS2 TRNV TRNW TSEN15 TSEN2 TSEN34 TSEN54

Diseases (104) :ORPHA:99885 ORPHA:101070 ORPHA:36387 ORPHA:313772 OMIM:614487 OMIM:271980 ORPHA:22 OMIM:266100 OMIM:618587 ORPHA:1942 ORPHA:821 OMIM:308350 OMIM:159950 ORPHA:2590 ORPHA:255210 OMIM:614498 ORPHA:79241 OMIM:257300 ORPHA:2382 ORPHA:477774 ORPHA:3095 OMIM:300672 OMIM:615369 OMIM:617924 OMIM:607628 ORPHA:1947 OMIM:617976 ORPHA:352582 OMIM:618141 OMIM:617836 ORPHA:330050 ORPHA:86309 ORPHA:79322 ORPHA:329178 ORPHA:268261 OMIM:607631 OMIM:614457 ORPHA:501 OMIM:254780 ORPHA:33069 OMIM:613060 ORPHA:206436 ORPHA:382 ORPHA:77260 ORPHA:77261 OMIM:231000 ORPHA:2072 OMIM:230600 OMIM:615501 ORPHA:208447 OMIM:614706 OMIM:616756 ORPHA:464282 ORPHA:96191 OMIM:614231 OMIM:617771 OMIM:611726 ORPHA:263516 ORPHA:221139 OMIM:613328 OMIM:618090 OMIM:617188 OMIM:610951 ORPHA:395 ORPHA:551 OMIM:605013 OMIM:301020 ORPHA:93399 OMIM:300912 ORPHA:404454 OMIM:617831 ORPHA:137831 ORPHA:95232 OMIM:251280 OMIM:300088 ORPHA:101039 ORPHA:79351 OMIM:300868 ORPHA:369837 OMIM:616640 OMIM:612437 ORPHA:456312 OMIM:601068 OMIM:607208 OMIM:604403 OMIM:617350 ORPHA:3208 ORPHA:2524 OMIM:616341 ORPHA:1935 OMIM:616685 ORPHA:415 OMIM:238970 OMIM:609304 OMIM:619881 ORPHA:3063 ORPHA:457351 OMIM:612164 ORPHA:480864 OMIM:605021 ORPHA:352596 ORPHA:352530 OMIM:617873 OMIM:545000

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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