Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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 | ORPHA:22 | Succinic semialdehyde dehydrogenase deficiency | HP:0040282 - Frequent | | | 108 | | |
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 | 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 | | |