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
..Bilateral tonic-clonic seizure (HP:0002069)

Term ID:

2069

Name:

Bilateral tonic-clonic seizure

Synonym:

Bilateral convulsive seizures; Generalised convulsion; Generalised tonic-clonic seizure (without specification of onset); Generalized convulsion; Generalized tonic-clonic seizure (without specification of onset); Grand mal; Grand mal seizures; Seizures, tonic-clonic; Tonic-clonic convulsion; Tonic-clonic convulsions

Definition:

A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.

Comments:

Reference:

HP:0002069

Genes and Diseases:

Child Nodes:

........

Generalized tonic-clonic seizures on awakening (HP:0007193)

........

Photosensitive tonic-clonic seizures (HP:0007207)

........

Generalized tonic-clonic seizures with focal onset (HP:0007334)

........

Generalized tonic-clonic seizures without focal onset (HP:0025190)

Sister Nodes:

Atonic seizure (HP:0010819)

Generalized clonic seizure (HP:0011169)

Generalized myoclonic seizure (HP:0002123)

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:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD			60
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ACTL6B CL E G H	51412	160	OMIM:618470	Intellectual developmental disorder with severe speech and ambulation defects			2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria			88
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ADGRV1 CL E G H	84059	17416	OMIM:604352	Febrile seizures, familial, 4	.		530
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		530
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	HP:0040281 - Very frequent		1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent		86
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	AFG3L2 CL E G H	10939	315	OMIM:614487	Spastic ataxia 5, autosomal recessive	.		86
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.		108
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ALDH5A1 CL E G H	7915	408	ORPHA:22	Succinic semialdehyde dehydrogenase deficiency	HP:0040282 - Frequent		108
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	AP2M1 CL E G H	1173	564	OMIM:618587	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ARFGEF1 CL E G H	10565	15772	OMIM:619964
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		166
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome			78
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040282 - Frequent		48
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		239
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP1A2 CL E G H	477	800	OMIM:104290	Alternating hemiplegia of childhood 1	HP:0040282 - Frequent		239
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		150
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99			150
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH			36
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040281 - Very frequent		36
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		56
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		94
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		449
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CACNA1A CL E G H	773	1388	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		449
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.		51
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent		51
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		75
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9			146
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CACNB4 CL E G H	785	1404	OMIM:613855	Episodic ataxia, type 5			146
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy			146
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CAMTA1 CL E G H	23261	18806	OMIM:614756	Cerebellar ataxia, nonprogressive, with mental retardation			34
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		118
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		405
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CERS1 CL E G H	10715	14253	OMIM:616230	Epilepsy, progressive myoclonic, 8	.		1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CHD2 CL E G H	1106	1917	OMIM:615369	EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC			227
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CHD2 CL E G H	1106	1917	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		227
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy			227
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		42
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		188
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		225
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		88
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45			39
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CLCN2 CL E G H	1181	2020	OMIM:607628	Epilepsy with grand mal seizures on awakening			44
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy			44
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CLN6 CL E G H	54982	2077	OMIM:204300	Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive			143
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CLN8 CL E G H	2055	2079	OMIM:610003	Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	.		111
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional		6
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CNTN2 CL E G H	6900	2172	OMIM:615400	Epilepsy, familial adult myoclonic, 5	.		9
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2			147
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CPA6 CL E G H	57094	17245	OMIM:614417	Epilepsy, familial temporal lobe, 5			49
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CPA6 CL E G H	57094	17245	OMIM:614418	FEBRILE SEIZURES, FAMILIAL, 11; FEB11			49
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CSTB CL E G H	1476	2482	OMIM:254800	Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)			51
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CUX2 CL E G H	23316	19347	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DEPDC5 CL E G H	9681	18423	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare		172
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		172
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040282 - Frequent		172
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities			47
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DHX16 CL E G H	8449	2739	OMIM:618733	NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DNAJC5 CL E G H	80331	16235	OMIM:162350	Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant			155
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DNM1 CL E G H	1759	2972	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		72
HP:0002069	HP:0002069	Bilateral tonic-clonic 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:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002069	HP:0002069	Bilateral tonic-clonic 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:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33			60
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence			153
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	EFHC1 CL E G H	114327	16406	ORPHA:1941	Juvenile absence epilepsy	HP:0040281 - Very frequent		153
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy			153
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	EFHC1 CL E G H	114327	16406	OMIM:254770	Myoclonic epilepsy, juvenile, susceptibility to, 1	.		153
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional		83
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD			7
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040282 - Frequent		111
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent		4
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	FRRS1L CL E G H	23732	1362	OMIM:616981	Epileptic encephalopathy, early infantile, 37			4
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59			5
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		134
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome			134
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy			134
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		57
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRB3 CL E G H	2562	4083	OMIM:617113	Epileptic encephalopathy, early infantile, 43			57
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRB3 CL E G H	2562	4083	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		57
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRD CL E G H	2563	4084	OMIM:613060	Epilepsy, idiopathic generalized, 10	.		10
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		10
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy			10
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		139
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome			139
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRG2 CL E G H	2566	4087	OMIM:607681	Febrile seizures, familial, 8	.		139
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		139
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy			139
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GAMT CL E G H	2593	4136	OMIM:612736	Cerebral creatine deficiency syndrome 2			91
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GAMT CL E G H	2593	4136	ORPHA:382	Guanidinoacetate methyltransferase deficiency	HP:0040283 - Occasional		91
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GLRA2 CL E G H	2742	4327	OMIM:301076	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA			6
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GNAI1 CL E G H	2770	4384	OMIM:619854
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		36
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GOSR2 CL E G H	9570	4431	OMIM:614018	Epilepsy, progressive myoclonic, 6			88
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.		18
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.		4
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional		30
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional		108
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040282 - Frequent		434
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040282 - Frequent		434
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040283 - Occasional		434
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy			434
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			434
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27			274
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRIN2B CL E G H	2904	4586	OMIM:613970	Mental retardation, autosomal dominant 6, with or without seizures			274
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		126
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HACE1 CL E G H	57531	21033	ORPHA:464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	HP:0040283 - Occasional		10
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HCN1 CL E G H	348980	4845	OMIM:615871	Epileptic encephalopathy, early infantile, 24			54
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		54
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HCN2 CL E G H	610	4846	OMIM:602477	Febrile seizures, familial, 2	.		7
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040282 - Frequent		16
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HID1 CL E G H	283987	15736	OMIM:619983
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040281 - Very frequent		39
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54			39
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1			119
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		145
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures			114
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNMA1 CL E G H	3778	6284	ORPHA:79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	HP:0040283 - Occasional		114
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNMA1 CL E G H	3778	6284	OMIM:609446	Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy	.		114
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional		528
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNQ2 CL E G H	3785	6296	OMIM:121200	Seizures, benign familial neonatal, 1	.		528
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional		302
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNQ3 CL E G H	3786	6297	OMIM:121201	Epilepsy, benign neonatal, 2	.	HP:0003623 - Neonatal onset	302
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy			302
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare		321
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional		106
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KIF4A CL E G H	24137	13339	OMIM:300923	MENTAL RETARDATION, X-LINKED 100; MRX100			5
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital	HP:0040283 - Occasional		114
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	LGI1 CL E G H	9211	6572	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare		75
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1			75
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	LMAN2L CL E G H	81562	19263	OMIM:617863				1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		8
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	MAPK10 CL E G H	5602	6872	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		61
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		140
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	MARCHF6 CL E G H	10299	30550	OMIM:613608	Epilepsy, familial adult myoclonic, 3	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	METTL23 CL E G H	124512	26988	OMIM:615942	Mental retardation, autosomal recessive 44			13
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B			26
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional		183
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NBEA CL E G H	26960	7648	OMIM:619157	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE			3
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040284 - Very rare		101
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy			52
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional		77
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NIPA1 CL E G H	123606	17043	ORPHA:100988	Autosomal dominant spastic paraplegia type 6	HP:0040282 - Frequent		117
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040282 - Frequent		4
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040282 - Frequent		7
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	NUS1 CL E G H	116150	21042	OMIM:617831	MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome			225
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PCDH19 CL E G H	57526	14270	OMIM:300088	Epileptic encephalopathy, early infantile, 9	.		225
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040282 - Frequent		225
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		88
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		20
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIDD1 CL E G H	55367	16491	OMIM:619827	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040283 - Occasional		7
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		36
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		84
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent		12
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		57
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		6
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PLCB1 CL E G H	23236	15917	OMIM:613722	Epileptic encephalopathy, early infantile, 12			119
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		244
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent		464
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PPIL1 CL E G H	51645	9260	OMIM:619301	PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional		94
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PRRT2 CL E G H	112476	30500	OMIM:605751	Seizures, benign familial infantile, 2			94
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency	HP:0040281 - Very frequent		81
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		241
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional		54
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria			948
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion			53
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	RELN CL E G H	5649	9957	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare		334
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1			334
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	RORB CL E G H	6096	10259	OMIM:618357	Epilepsy, idiopathic generalized, susceptibility to, 15	.		3
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1			2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SARS1 CL E G H	6301	10537	OMIM:617709	Neurodevelopmental disorder with microcephaly, ataxia, and seizures
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:619317	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B			1053
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome			1053
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1A CL E G H	6323	10585	OMIM:604403	Generalized epilepsy with febrile seizures plus, type 2	.		1053
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		1053
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:2382	Lennox-Gastaut syndrome	HP:0040282 - Frequent		1053
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy			1053
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome			126
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		126
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1B CL E G H	6324	10586	OMIM:604233	Generalized epilepsy with febrile seizures plus, type 1	.		126
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		126
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional		427
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome			427
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		427
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN2A CL E G H	6326	10588	OMIM:613721	Epileptic encephalopathy, early infantile, 11	.		427
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN2A CL E G H	6326	10588	OMIM:618924	EPISODIC ATAXIA, TYPE 9; EA9			427
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		427
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN2A CL E G H	6326	10588	OMIM:607745	Seizures, benign familial infantile, 3			427
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4			70
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy	HP:0040283 - Occasional		357
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN8A CL E G H	6334	10596	OMIM:617080	Seizures, benign familial infantile, 5	.		357
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome			318
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		318
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SIK1 CL E G H	150094	11142	OMIM:616341	Deafness, autosomal dominant 67	.		11
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		11
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC12A5 CL E G H	57468	13818	OMIM:616685	Epilepsy, idiopathic generalized, susceptibility to, 14	.		8
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC1A2 CL E G H	6506	10940	OMIM:617105	Epileptic encephalopathy, early infantile, 41			3
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040283 - Occasional		63
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040283 - Occasional		4
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency			207
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040283 - Occasional		36
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		166
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional		255
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC2A1 CL E G H	6513	11005	OMIM:614847	Epilepsy, idiopathic generalized, susceptibility to, 12	.		255
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy			255
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040284 - Very rare		255
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy			29
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC7A6OS CL E G H	84138	25807	OMIM:619191	EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional		49
HP:0002069	HP:0002069	Bilateral tonic-clonic 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:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		62
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy			50
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome			50
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	STUB1 CL E G H	10273	11427	OMIM:618093	SPINOCEREBELLAR ATAXIA 48; SCA48			14
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	STX1B CL E G H	112755	18539	OMIM:616172	Generalized epilepsy with febrile seizures plus, type 9	.		9
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040283 - Occasional		9
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SYNGAP1 CL E G H	8831	11497	OMIM:612621	Mental retardation, autosomal dominant 5			108
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy			108
HP:0002069	HP:0002069	Bilateral tonic-clonic 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:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TBC1D24 CL E G H	57465	29203	OMIM:608105	Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp			271
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040283 - Occasional		271
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TBC1D24 CL E G H	57465	29203	OMIM:605021	Myoclonic epilepsy, familial infantile	.		271
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040283 - Occasional		5
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040283 - Occasional		27
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		31
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040282 - Frequent
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation			106
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040282 - Frequent		21
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent		1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		278
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	UBE4A CL E G H	9354	12499	OMIM:619639	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS			1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	UFSP2 CL E G H	55325	25640	OMIM:620028				2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional		63
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040282 - Frequent		8
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	WWOX CL E G H	51741	12799	OMIM:614322	Spinocerebellar ataxia, autosomal recessive 12			149
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	YEATS2 CL E G H	55689	25489	OMIM:615127	Epilepsy, familial adult myoclonic, 4	.		1
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30			24
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ZNF142 CL E G H	7701	12927	OMIM:618425	Neurodevelopmental disorder with impaired speech and hyperkinetic movements	HP:0040284 - Very rare
HP:0002069	HP:0002069	Bilateral tonic-clonic seizure	0	ZNF526 CL E G H	116115	29415	OMIM:619877				24
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		88
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional		78
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98			239
HP:0002069	HP:0007193	Bilateral tonic-clonic seizure on awakening	1	CACNB4 CL E G H	785	1404	OMIM:607682	Epilepsy, idiopathic generalized, susceptibility to, 9	.		146
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy			146
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		227
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy
HP:0002069	HP:0007193	Bilateral tonic-clonic seizure on awakening	1	CLCN2 CL E G H	1181	2020	OMIM:607628	Epilepsy with grand mal seizures on awakening	.		44
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy			44
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	COQ5 CL E G H	84274	28722	OMIM:619028	COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent		1
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	DEPDC5 CL E G H	9681	18423	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare		172
HP:0002069	HP:0007193	Bilateral tonic-clonic seizure on awakening	1	EFHC1 CL E G H	114327	16406	OMIM:607631	Epilepsy, juvenile absence	.		153
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy			153
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	EPM2A CL E G H	7957	3413	ORPHA:501	Lafora disease	HP:0040283 - Occasional		83
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB			1
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome			134
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy			134
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy			10
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome			139
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		139
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	GAD1 CL E G H	2571	4092	OMIM:619124	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89			44
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	GAL CL E G H	51083	4114	OMIM:616461	Epilepsy, familial temporal lobe, 8			1
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD			434
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040282 - Frequent		434
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		434
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent		434
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	KCNB1 CL E G H	3745	6231	OMIM:616056	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26; EIEE26			65
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	KCNJ11 CL E G H	3767	6257	OMIM:618856	DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2			127
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	KCNMA1 CL E G H	3778	6284	OMIM:617643	Cerebellar atrophy, developmental delay, and seizures	.		114
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent		528
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent		302
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy			302
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	LGI1 CL E G H	9211	6572	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare		75
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	LGI1 CL E G H	9211	6572	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1			75
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	MICAL1 CL E G H	64780	20619	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	NARS1 CL E G H	4677	7643	OMIM:619091	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		52
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	NHLRC1 CL E G H	378884	21576	ORPHA:501	Lafora disease	HP:0040283 - Occasional		77
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome			225
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040282 - Frequent		54
HP:0002069	HP:0032660	Convulsive status epilepticus	1	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5			99
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent		94
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent		948
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	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:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent		1
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	RELN CL E G H	5649	9957	ORPHA:101046	Autosomal dominant epilepsy with auditory features	HP:0040284 - Very rare		334
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	RELN CL E G H	5649	9957	OMIM:600512	EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1			334
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome			1053
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		1053
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome			126
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent		427
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome			427
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	SCN2A CL E G H	6326	10588	OMIM:607745	Seizures, benign familial infantile, 3	.		427
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy	HP:0040282 - Frequent		357
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13			357
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome			318
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		66
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34			8
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent		207
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		255
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		29
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type			93
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040282 - Frequent		50
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent		50
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040282 - Frequent		108
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent		271
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS			2
HP:0002069	HP:0007334	Bilateral tonic-clonic seizure with focal onset	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS			1
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		3
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		84
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		57
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		102
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		278
HP:0002069	HP:0032660	Convulsive status epilepticus	1	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0002069	HP:0025190	Bilateral tonic-clonic seizure with generalized onset	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0002069	HP:0032662	Focal-onset seizure evolving into bilateral convulsive status epilepticus	2	CL E G H
HP:0002069	HP:0032661	Generalized convulsive status epilepticus	2	CL E G H
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	CACNB4 CL E G H	785	1404	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional		146
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	CILK1 CL E G H	22858	21219	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	CLCN2 CL E G H	1181	2020	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional		44
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	EFHC1 CL E G H	114327	16406	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional		153
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		134
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	GABRA1 CL E G H	2554	4075	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional		134
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	GABRD CL E G H	2563	4084	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional		10
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		139
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	JRK CL E G H	8629	6199	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	KCNQ3 CL E G H	3786	6297	ORPHA:307	Juvenile myoclonic epilepsy	HP:0040283 - Occasional		302
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		225
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		1053
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		126
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		427
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent		318
HP:0002069	HP:0007207	Photosensitive tonic-clonic seizure	2	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.		93

Genes (330) :ABCC8 ACADM ACADVL ACO2 ACTL6B ADAM22 ADGRG1 ADGRV1 ADORA2A ADPRS AFF3 AFG3L2 ALDH5A1 ALDH7A1 AP2M1 AP3D1 APC2 ARFGEF1 ARX ASAH1 ASPA ATP1A2 ATP1A3 ATP5F1D ATP6 ATP6AP2 ATP6V0A1 ATP6V1B2 ATRX BTD BUB1B C9ORF72 CABP4 CACNA1A CACNA1D CACNA1H CACNB4 CAMK2B CAMTA1 CARS2 CASK CDC40 CDKL5 CEP85L CERS1 CERT1 CHD2 CHMP2B CHRNA2 CHRNA4 CHRNB2 CIC CILK1 CLCN2 CLCN3 CLCN4 CLN3 CLN6 CLN8 CLPB CLTCL1 CNTN2 CNTNAP2 COL4A2 COQ2 COQ5 COX1 COX2 COX3 COX8A CPA6 CPLX1 CRH CSTB CUX2 CYTB D2HGDH DEPDC5 DHDDS DHX16 DMXL2 DNAJC5 DNM1 DNM1L DOHH DOLK DPH5 DPYSL5 DYRK1A EEF1A2 EFHC1 EPM2A ERCC6 EXOC8 EZH2 FA2H FAR1 FBXO28 FGF13 FIG4 FRRS1L GABBR2 GABRA1 GABRA5 GABRB3 GABRD GABRG2 GAD1 GAL GAMT GBA1 GCK GJA5 GJA8 GLRA2 GLYCTK GNAI1 GNAO1 GNB1 GOSR2 GPAA1 GPHN GPT2 GRIA2 GRIA3 GRIK2 GRIN1 GRIN2A GRIN2B GRM7 GRN GTPBP2 GYS1 HACE1 HCN1 HCN2 HERC1 HEXB HHAT HID1 HNRNPU HSD17B4 HTRA1 INS IQSEC2 JRK KCNA1 KCNB1 KCNC2 KCNJ11 KCNK4 KCNMA1 KCNN2 KCNQ2 KCNQ3 KCNT1 KCTD7 KDM6A KIF4A KMT2D KPTN LAMC3 LBR LGI1 LGI4 LMAN2L LONP1 MACF1 MAPK10 MAPT MARCHF6 METTL23 MICAL1 MOCS2 MTHFR NAA10 NARS1 NBEA ND1 ND2 ND3 ND4 ND5 ND6 NDUFA4 NDUFAF4 NDUFS4 NEK1 NEUROD2 NEXMIF NHLRC1 NIPA1 NPRL2 NPRL3 NR4A2 NSD1 NUS1 OGDH OGDHL PAK3 PCDH19 PCYT2 PDHA1 PDSS2 PDX1 PEX5 PGAP1 PGAP2 PGAP3 PHGDH PIDD1 PIGF PIGG PIGL PIGO PIGP PIGQ PIGS PIGT PIGV PIGW PIGY PLCB1 PLCH1 PLPBP PNKP POLG PPFIBP1 PPIL1 PPP3CA PRPS1 PRRT2 PSAP PSEN1 PSPH PTEN PURA PUS3 PYCR2 RAB18 RELN RNF13 RORB RPL10 SAMD12 SARDH SARS1 SATB2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SEPSECS SETD1A SETD1B SETD2 SIK1 SLC12A5 SLC1A2 SLC1A3 SLC1A4 SLC22A5 SLC25A19 SLC25A22 SLC2A1 SLC38A3 SLC6A1 SLC6A5 SLC7A6OS SLC9A6 SMC1A SP110 SPATA5 SPATA5L1 SQSTM1 SRPX2 ST3GAL5 STARD7 STAT3 STUB1 STX1B STXBP1 SUOX SYNGAP1 TANGO2 TBC1D24 TBCD THOC2 TMEM106B TMEM94 TMX2 TRAPPC11 TRAPPC6B TREM2 TRIM8 TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBA8 TXN2 UBE3A UBE4A UFSP2 VAMP2 VCP VPS13A VPS53 WAC WDR26 WDR62 WWOX YEATS2 YIPF5 ZMYND11 ZNF142 ZNF526

Diseases (299) :ORPHA:99885 ORPHA:42 OMIM:201475 OMIM:614559 OMIM:618470 OMIM:617933 ORPHA:101070 OMIM:604352 ORPHA:36387 ORPHA:363549 OMIM:618170 OMIM:619297 ORPHA:313772 OMIM:614487 OMIM:271980 ORPHA:22 OMIM:266100 OMIM:618587 ORPHA:1942 OMIM:617050 ORPHA:821 OMIM:619964 ORPHA:1934 ORPHA:2590 OMIM:271900 ORPHA:314911 ORPHA:2131 OMIM:104290 OMIM:619605 OMIM:602481 OMIM:619606 OMIM:618120 ORPHA:255210 OMIM:300423 ORPHA:93952 OMIM:619970 ORPHA:79500 OMIM:301040 ORPHA:79241 OMIM:257300 ORPHA:275864 ORPHA:98784 ORPHA:2382 OMIM:615474 ORPHA:369929 ORPHA:64280 OMIM:607682 OMIM:613855 ORPHA:307 OMIM:617799 OMIM:614756 OMIM:616672 OMIM:619302 OMIM:618873 OMIM:616230 OMIM:616351 OMIM:615369 OMIM:617600 OMIM:607628 OMIM:619512 ORPHA:485350 OMIM:204200 ORPHA:228346 OMIM:204300 OMIM:610003 OMIM:619835 ORPHA:453510 OMIM:615400 ORPHA:163681 OMIM:614483 ORPHA:255249 OMIM:619028 ORPHA:550 OMIM:540000 OMIM:619059 OMIM:614417 OMIM:614418 ORPHA:352582 OMIM:254800 OMIM:600721 ORPHA:101046 ORPHA:98820 OMIM:617836 OMIM:618733 OMIM:162350 ORPHA:330050 OMIM:620066 ORPHA:91131 OMIM:620070 OMIM:619435 ORPHA:268261 OMIM:616409 OMIM:607631 ORPHA:1941 OMIM:254770 ORPHA:501 OMIM:254780 OMIM:278800 OMIM:619076 OMIM:277590 ORPHA:329308 OMIM:619338 OMIM:619777 OMIM:301058 ORPHA:208441 ORPHA:725 OMIM:616981 OMIM:617904 ORPHA:33069 OMIM:618559 OMIM:617113 OMIM:613060 OMIM:607681 ORPHA:1945 OMIM:619124 OMIM:616461 OMIM:612736 ORPHA:382 ORPHA:2072 OMIM:612474 OMIM:301076 OMIM:220120 OMIM:619854 ORPHA:488613 OMIM:616973 OMIM:614018 OMIM:617810 ORPHA:529665 OMIM:615501 OMIM:616281 OMIM:618917 ORPHA:364028 OMIM:619580 ORPHA:208447 ORPHA:289266 OMIM:245570 ORPHA:98818 ORPHA:163721 OMIM:616139 OMIM:613970 OMIM:617988 OMIM:611556 ORPHA:464282 OMIM:615871 OMIM:602477 ORPHA:457359 OMIM:268800 ORPHA:309155 OMIM:600092 OMIM:619983 ORPHA:238769 OMIM:617391 OMIM:261515 ORPHA:199354 OMIM:309530 OMIM:616056 OMIM:619913 OMIM:618856 OMIM:618381 OMIM:617643 ORPHA:79137 OMIM:609446 OMIM:619725 ORPHA:306 OMIM:121200 OMIM:121201 OMIM:611726 ORPHA:263516 OMIM:147920 OMIM:300923 OMIM:615637 OMIM:614115 OMIM:169400 OMIM:600512 OMIM:617468 OMIM:617863 ORPHA:79243 OMIM:618325 OMIM:613608 OMIM:615942 OMIM:252160 ORPHA:395 OMIM:300855 OMIM:619091 OMIM:619092 OMIM:619157 OMIM:619065 OMIM:618237 OMIM:252010 ORPHA:2751 OMIM:300912 ORPHA:100988 OMIM:619911 OMIM:617831 OMIM:203740 OMIM:619701 OMIM:300558 OMIM:300088 ORPHA:101039 OMIM:618770 OMIM:616716 OMIM:615802 ORPHA:247262 ORPHA:79351 OMIM:619827 OMIM:619356 ORPHA:488635 OMIM:618143 ORPHA:369837 OMIM:615398 OMIM:613722 OMIM:619895 OMIM:617290 ORPHA:726 OMIM:620024 OMIM:619301 OMIM:617711 ORPHA:423479 OMIM:605751 ORPHA:139406 OMIM:610539 ORPHA:79350 ORPHA:314655 ORPHA:488627 ORPHA:481152 OMIM:614222 ORPHA:544503 OMIM:618357 ORPHA:459070 OMIM:601068 ORPHA:3129 OMIM:617709 OMIM:612313 OMIM:619317 OMIM:607208 OMIM:604403 OMIM:604233 OMIM:613721 OMIM:618924 OMIM:607745 OMIM:617935 OMIM:614558 OMIM:617080 ORPHA:2524 OMIM:618832 OMIM:619000 OMIM:616341 OMIM:616685 OMIM:616645 OMIM:617105 ORPHA:447997 ORPHA:158 ORPHA:99742 OMIM:614847 ORPHA:53583 OMIM:619881 OMIM:614618 OMIM:619191 OMIM:300243 OMIM:301044 ORPHA:79124 ORPHA:457351 OMIM:619616 OMIM:609056 OMIM:607876 OMIM:618093 OMIM:616172 OMIM:612164 OMIM:272300 OMIM:612621 ORPHA:480864 OMIM:608105 OMIM:605021 ORPHA:496641 OMIM:617193 ORPHA:457240 OMIM:618316 OMIM:618730 ORPHA:369840 OMIM:617862 OMIM:619428 ORPHA:171680 ORPHA:250972 ORPHA:478029 ORPHA:98795 OMIM:619639 OMIM:620028 OMIM:618760 ORPHA:2388 OMIM:615851 ORPHA:466950 ORPHA:513456 OMIM:604317 OMIM:614322 OMIM:615127 OMIM:619278 OMIM:616083 OMIM:618425 OMIM:619877

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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