Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the nervous system (HP:0000707)help
Parent Node:
expand
Abnormality of nervous system physiology (HP:0012638)help
..Starting node
..expand
Seizures (HP:0001250)help
Term ID: 1250
Name: Seizures
Synonym: Epilepsy; Seizure; Seizures
Definition: Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.
Comments:
Reference: HP:0001250
Genes and Diseases:
 
       Child Nodes:
........expandStatus epilepticus (HP:0002133) help
................... HP:0012847 Epilepsia partialis continua
................... HP:0031475 Nonconvulsive status epilepticus
........expandGeneralized seizures (HP:0002197) help
................... HP:0002069 Generalized tonic-clonic seizures
................... HP:0002121 Absence seizures
................... HP:0002123 Generalized myoclonic seizures
................... HP:0010818 Generalized tonic seizures
................... HP:0010819 Atonic seizures
................... HP:0011169 Generalized clonic seizures
........expandFebrile seizures (HP:0002373) help
................... HP:0011171 Simple febrile seizures
................... HP:0011172 Complex febrile seizures
........expandFocal seizures (HP:0007359) help
................... HP:0002349 Focal seizures without impairment of consciousness or awareness
................... HP:0002384 Focal seizures with impairment of consciousness or awareness
................... HP:0011153 Focal motor seizures
................... HP:0011154 Focal autonomic seizures
................... HP:0011157 Auras
................... HP:0040168 Focal seizures, afebril
........expandEpileptic spasms (HP:0011097) help
................... HP:0012469 Infantile spasms
........expandSymptomatic seizures (HP:0011145) help
................... HP:0002173 Hypoglycemic seizures
................... HP:0002199 Hypocalcemic seizures
........expandDialeptic seizures (HP:0011146) help
................... HP:0002121 Absence seizures
................... HP:0002384 Focal seizures with impairment of consciousness or awareness
........expandMultifocal seizures (HP:0031165) help

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of central motor function (HP:0011442) help
..expandAbnormality of central sensory function (HP:0011730) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandEncephalopathy (HP:0001298) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001250HP:0001250Seizures0AAAS CL E G H8086869ORPHA1799913666605378
HP:0001250HP:0001250Seizures0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM12120601065
HP:0001250HP:0001250Seizures0AASS CL E G H10157238700Hyperlysinemia238700C0268553OMIM1146617366605113
HP:0001250HP:0001250Seizures0ABAT CL E G H18613163Gamma-aminobutyric acid transaminase deficiency613163C0342708OMIM11235223137150
HP:0001250HP:0001250Seizures0ABCA7 CL E G H103471020ORPHA114310337605414
HP:0001250HP:0001250Seizures0ABCC8 CL E G H683379134ORPHA166160259600509
HP:0001250HP:0001250Seizures0ABCC8 CL E G H6833240800Leucine-induced hypoglycemia240800C0271714OMIM166160259600509
HP:0001250HP:0001250Seizures0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM166160259600509
HP:0001250HP:0001250Seizures0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM166970961300371
HP:0001250HP:0001250Seizures0ACADM CL E G H34201450Medium-chain acyl-coenzyme A dehydrogenase deficiency201450C0220710OMIM117138989607008
HP:0001250HP:0001250Seizures0ACADS CL E G H35201470Deficiency of butyryl-CoA dehydrogenase201470C0342783OMIM18521690606885
HP:0001250HP:0001250Seizures0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM11522991600301
HP:0001250HP:0001250Seizures0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM119185118100850
HP:0001250HP:0001250Seizures0ACOX1 CL E G H512971ORPHA126257119609751
HP:0001250HP:0001250Seizures0ACOX1 CL E G H51264470Pseudoneonatal adrenoleukodystrophy264470C1849678OMIM126257119609751
HP:0001250HP:0001250Seizures0ACTA2 CL E G H592573Growth retardation alopecia pseudoanodontia opticORPHA183290130102620
HP:0001250HP:0001250Seizures0ACTB CL E G H60243310Baraitser-Winter syndrome 1243310C1855722OMIM165224132102630
HP:0001250HP:0001250Seizures0ACTB CL E G H602995Infant epilepsy with migrant focal crisisORPHA165224132102630
HP:0001250HP:0001250Seizures0ACTG1 CL E G H712995Infant epilepsy with migrant focal crisisORPHA148261144102560
HP:0001250HP:0001250Seizures0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432490175601284
HP:0001250HP:0001250Seizures0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM11557177104620
HP:0001250HP:0001250Seizures0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM1552161839607575
HP:0001250HP:0001250Seizures0ADAM22 CL E G H53616617933Early infantile epileptic encephalopathy 61617933CN244550OMIM1342201603709
HP:0001250HP:0001250Seizures0ADAMTS3 CL E G H95082136Epidermal nevus vitamin D resistant ricketsORPHA1438219605011
HP:0001250HP:0001250Seizures0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM12821014631612277
HP:0001250HP:0001250Seizures0ADAR CL E G H10351ORPHA1229316225146920
HP:0001250HP:0001250Seizures0ADGRG1 CL E G H9289615752Polymicrogyria, bilateral perisylvian, autosomal recessive615752C3810405OMIM1362774512604110
HP:0001250HP:0001250Seizures0ADK CL E G H132614300Hypermethioninemia due to adenosine kinase deficiency614300C3280381OMIM11564257102750
HP:0001250HP:0001250Seizures0ADSL CL E G H1584646,XX testicular disorder of sex developmentC2936420ORPHA158279291608222
HP:0001250HP:0001250Seizures0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM158279291608222
HP:0001250HP:0001250Seizures0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0001250HP:0001250Seizures0AHSG CL E G H1972850ORPHA1657349138680
HP:0001250HP:0001250Seizures0AIFM1 CL E G H9131300816Combined oxidative phosphorylation deficiency 6300816C3151753OMIM1333438768300169
HP:0001250HP:0001250Seizures0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM153410648603605
HP:0001250HP:0001250Seizures0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM136620609600859
HP:0001250HP:0001250Seizures0AIPL1 CL E G H2374665ORPHA179232359604392
HP:0001250HP:0001250Seizures0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112269391164730
HP:0001250HP:0001250Seizures0AKT2 CL E G H208240900Hypoglycemia, neonatal, simulating foetopathia diabetica240900C1855860OMIM1746392164731
HP:0001250HP:0001250Seizures0AKT3 CL E G H1000083473ORPHA128175393611223
HP:0001250HP:0001250Seizures0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM1332529722138250
HP:0001250HP:0001250Seizures0ALDH3A2 CL E G H224816ORPHA1111308403609523
HP:0001250HP:0001250Seizures0ALDH3A2 CL E G H224270200Sjögren-Larsson syndrome270200C0037231OMIM1111308403609523
HP:0001250HP:0001250Seizures0ALDH4A1 CL E G H8659239510Deficiency of pyrroline-5-carboxylate reductase239510C2931835OMIM15171406606811
HP:0001250HP:0001250Seizures0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0001250HP:0001250Seizures0ALG1 CL E G H5605279327ORPHA14416818294605907
HP:0001250HP:0001250Seizures0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM14416818294605907
HP:0001250HP:0001250Seizures0ALG11 CL E G H440138613661Congenital disorder of glycosylation type 1P613661C3150913OMIM11414332456613666
HP:0001250HP:0001250Seizures0ALG13 CL E G H79868300884Epileptic encephalopathy, early infantile, 36300884C3550904OMIM11446330881300776
HP:0001250HP:0001250Seizures0ALG2 CL E G H8536579326ORPHA1515323159607905
HP:0001250HP:0001250Seizures0ALG2 CL E G H85365607906Congenital disorder of glycosylation type 1I607906C1842836OMIM1515323159607905
HP:0001250HP:0001250Seizures0ALG3 CL E G H1019579321ORPHA11912323056608750
HP:0001250HP:0001250Seizures0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0001250HP:0001250Seizures0ALG6 CL E G H29929603147Congenital disorder of glycosylation type 1C603147C2930997OMIM12619723157604566
HP:0001250HP:0001250Seizures0ALG9 CL E G H7979679328ORPHA1416015672606941
HP:0001250HP:0001250Seizures0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM1416015672606941
HP:0001250HP:0001250Seizures0ALPL CL E G H249241510Childhood hypophosphatasia241510C0220743OMIM1295328438171760
HP:0001250HP:0001250Seizures0ALPL CL E G H249241500Infantile hypophosphatasia241500C0268412OMIM1295328438171760
HP:0001250HP:0001250Seizures0ALX4 CL E G H6052952022ORPHA127221450605420
HP:0001250HP:0001250Seizures0AMER1 CL E G H139285300373Osteopathia striata with cranial sclerosis300373C0432268OMIM14121926837300647
HP:0001250HP:0001250Seizures0AMPD2 CL E G H271615809Pontocerebellar hypoplasia, type 9615809C4014354OMIM11898469102771
HP:0001250HP:0001250Seizures0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM196208473238310
HP:0001250HP:0001250Seizures0ANGPTL6 CL E G H83854231160ORPHA141223140609336
HP:0001250HP:0001250Seizures0ANKLE2 CL E G H23141616681Microcephaly 16, primary, autosomal recessive616681C4225249OMIM128129101616062
HP:0001250HP:0001250Seizures0ANKRD11 CL E G H2912326125016q24.3 microdeletion syndromeCN202174ORPHA113472121316611192
HP:0001250HP:0001250Seizures0AP1S2 CL E G H8905304340Pettigrew syndrome304340C0796254OMIM114204560300629
HP:0001250HP:0001250Seizures0AP4B1 CL E G H10717614066Spastic paraplegia 47, autosomal recessive614066C3279738OMIM121140572607245
HP:0001250HP:0001250Seizures0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM118178573607244
HP:0001250HP:0001250Seizures0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM115150574602296
HP:0001250HP:0001250Seizures0APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0001250HP:0001250Seizures0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0001250HP:0001250Seizures0APP CL E G H3511020ORPHA1107232620104760
HP:0001250HP:0001250Seizures0APP CL E G H351100006ORPHA1107232620104760
HP:0001250HP:0001250Seizures0APP CL E G H351324713ORPHA1107232620104760
HP:0001250HP:0001250Seizures0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM166176634107777
HP:0001250HP:0001250Seizures0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0001250HP:0001250Seizures0ARFGEF2 CL E G H10564608097Heterotopia, periventricular, autosomal recessive608097C1842563OMIM11532015853605371
HP:0001250HP:0001250Seizures0ARG1 CL E G H38390ORPHA174132663608313
HP:0001250HP:0001250Seizures0ARG1 CL E G H383207800Arginase deficiency207800C0268548OMIM174132663608313
HP:0001250HP:0001250Seizures0ARHGAP31 CL E G H57514100300Adams-Oliver syndrome 1100300CN028867OMIM1710329216610911
HP:0001250HP:0001250Seizures0ARHGDIA CL E G H396615244Nephrotic syndrome, type 8615244C3808953OMIM1336678601925
HP:0001250HP:0001250Seizures0ARHGEF9 CL E G H23229300607Early infantile epileptic encephalopathy 8300607C1845102OMIM12327714561300429
HP:0001250HP:0001250Seizures0ARID1A CL E G H82891465ORPHA13617511110603024
HP:0001250HP:0001250Seizures0ARID1B CL E G H574921465ORPHA118857518040614556
HP:0001250HP:0001250Seizures0ARID1B CL E G H57492135900Coffin-Siris syndrome 1135900C3281201OMIM118857518040614556
HP:0001250HP:0001250Seizures0ARID2 CL E G H1965281465ORPHA11111518037609539
HP:0001250HP:0001250Seizures0ARL6IP6 CL E G H1511881556ORPHA131924048616495
HP:0001250HP:0001250Seizures0ARNT2 CL E G H99153157Lachiewicz Sibley syndromeORPHA164916876606036
HP:0001250HP:0001250Seizures0ARNT2 CL E G H9915615926Webb-Dattani syndrome615926C4014708OMIM164916876606036
HP:0001250HP:0001250Seizures0ARSA CL E G H410309256ORPHA1254567713607574
HP:0001250HP:0001250Seizures0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1254567713607574
HP:0001250HP:0001250Seizures0ARX CL E G H170302452ORPHA19846618060300382
HP:0001250HP:0001250Seizures0ARX CL E G H1703022508ORPHA19846618060300382
HP:0001250HP:0001250Seizures0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0001250HP:0001250Seizures0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM19846618060300382
HP:0001250HP:0001250Seizures0ARX CL E G H170302300004Proud Levine Carpenter syndrome300004C0796124OMIM19846618060300382
HP:0001250HP:0001250Seizures0ASCL1 CL E G H42999803Haddad syndromeC1859587ORPHA1630738100790
HP:0001250HP:0001250Seizures0ASL CL E G H435207900Argininosuccinate lyase deficiency207900C0268547OMIM1169264746608310
HP:0001250HP:0001250Seizures0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM12798753108370
HP:0001250HP:0001250Seizures0ASPA CL E G H443314911ORPHA1102177756608034
HP:0001250HP:0001250Seizures0ASS1 CL E G H445215700Citrullinemia type I215700C0175683OMIM1157323758603470
HP:0001250HP:0001250Seizures0ASXL1 CL E G H17102397297ORPHA14119918318612990
HP:0001250HP:0001250Seizures0ASXL1 CL E G H171023605039C-like syndrome605039C0796232OMIM14119918318612990
HP:0001250HP:0001250Seizures0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM132625903614452
HP:0001250HP:0001250Seizures0ATIC CL E G H471250977ORPHA1857794601731
HP:0001250HP:0001250Seizures0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1857794601731
HP:0001250HP:0001250Seizures0ATM CL E G H472100ORPHA113248934795607585
HP:0001250HP:0001250Seizures0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM113248934795607585
HP:0001250HP:0001250Seizures0ATN1 CL E G H1822101ORPHA15743033607462
HP:0001250HP:0001250Seizures0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM199537800182340
HP:0001250HP:0001250Seizures0ATP2A2 CL E G H488124200Keratosis follicularis124200C0022595OMIM1286160812108740
HP:0001250HP:0001250Seizures0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1390823164360
HP:0001250HP:0001250Seizures0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1390823164360
HP:0001250HP:0001250Seizures0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM141837603150
HP:0001250HP:0001250Seizures0ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0001250HP:0001250Seizures0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0001250HP:0001250Seizures0ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0001250HP:0001250Seizures0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0001250HP:0001250Seizures0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1947851607027
HP:0001250HP:0001250Seizures0ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0001250HP:0001250Seizures0ATP7A CL E G H538565ORPHA1357607869300011
HP:0001250HP:0001250Seizures0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1357607869300011
HP:0001250HP:0001250Seizures0ATP8A2 CL E G H517611766ORPHA1119113533605870
HP:0001250HP:0001250Seizures0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134404882601215
HP:0001250HP:0001250Seizures0ATRX CL E G H546847ORPHA1170663886300032
HP:0001250HP:0001250Seizures0ATRX CL E G H546301040ATR-X syndrome301040C1845055OMIM1170663886300032
HP:0001250HP:0001250Seizures0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM147710549611150
HP:0001250HP:0001250Seizures0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1286356897300538
HP:0001250HP:0001250Seizures0AVPR2 CL E G H554300539Nephrogenic syndrome of inappropriate antidiuresis300539C1845202OMIM1286356897300538
HP:0001250HP:0001250Seizures0B3GALNT2 CL E G H148789588ORPHA11622128596610194
HP:0001250HP:0001250Seizures0B3GLCT CL E G H145173261540Peters plus syndrome261540C0796012OMIM11518120207610308
HP:0001250HP:0001250Seizures0B4GAT1 CL E G H11041615287Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13615287C3809042OMIM178415685605517
HP:0001250HP:0001250Seizures0B9D2 CL E G H80776614175Meckel syndrome, type 10614175C3280036OMIM144028636611951
HP:0001250HP:0001250Seizures0BCKDHA CL E G H593248600Maple syrup urine disease248600C0024776OMIM1101255986608348
HP:0001250HP:0001250Seizures0BCKDHB CL E G H594248600Maple syrup urine disease248600C0024776OMIM1115319987248611
HP:0001250HP:0001250Seizures0BCKDK CL E G H10295614923Branched-chain keto acid dehydrogenase kinase deficiency614923C3554078OMIM167516902614901
HP:0001250HP:0001250Seizures0BCL10 CL E G H8915616098Immunodeficiency 37616098C4015195OMIM1362989603517
HP:0001250HP:0001250Seizures0BCL11B CL E G H64919617237Immunodeficiency 49617237C4310656OMIM1126513222606558
HP:0001250HP:0001250Seizures0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001250HP:0001250Seizures0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371741020603647
HP:0001250HP:0001250Seizures0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM1371741020603647
HP:0001250HP:0001250Seizures0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM164224415613183
HP:0001250HP:0001250Seizures0BPTF CL E G H2186529962ORPHA114803581601819
HP:0001250HP:0001250Seizures0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM1684901097164757
HP:0001250HP:0001250Seizures0BRAF CL E G H673613707LEOPARD syndrome 3613707C3150971OMIM1684901097164757
HP:0001250HP:0001250Seizures0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM11848221701614506
HP:0001250HP:0001250Seizures0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM15026315832606158
HP:0001250HP:0001250Seizures0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0001250HP:0001250Seizures0C12orf57 CL E G H113246218340Temtamy syndrome218340C1857512OMIM1812529521615140
HP:0001250HP:0001250Seizures0CA8 CL E G H7671766ORPHA14451382114815
HP:0001250HP:0001250Seizures0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM125113931388601011
HP:0001250HP:0001250Seizures0CAMKMT CL E G H79823163693ORPHA13226276609559
HP:0001250HP:0001250Seizures0CAMTA1 CL E G H23261614756Cerebellar ataxia, nonprogressive, with mental retardation614756C3553661OMIM11123218806611501
HP:0001250HP:0001250Seizures0CASK CL E G H8573163937ORPHA11194461497300172
HP:0001250HP:0001250Seizures0CASQ2 CL E G H845604772Catecholaminergic polymorphic ventricular tachycardia type 1604772C4053736OMIM1353141513114251
HP:0001250HP:0001250Seizures0CASQ2 CL E G H845611938Ventricular tachycardia, catecholaminergic polymorphic, 2611938C2677794OMIM1353141513114251
HP:0001250HP:0001250Seizures0CASR CL E G H846601198Hypocalcemia, autosomal dominant 1601198C0342345OMIM14109551514601199
HP:0001250HP:0001250Seizures0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM12146111550613381
HP:0001250HP:0001250Seizures0CCBE1 CL E G H1473722136Epidermal nevus vitamin D resistant ricketsORPHA11330529426612753
HP:0001250HP:0001250Seizures0CCBE1 CL E G H147372235510Hennekam lymphangiectasia-lymphedema syndrome235510C0340834OMIM11330529426612753
HP:0001250HP:0001250Seizures0CCDC88C CL E G H440193236600Congenital hydrocephalus 1236600C3887608OMIM11119219967611204
HP:0001250HP:0001250Seizures0CCM2 CL E G H83605221061ORPHA18815421708607929
HP:0001250HP:0001250Seizures0CCM2 CL E G H83605603284Cerebral cavernous malformations 2603284C1864041OMIM18815421708607929
HP:0001250HP:0001250Seizures0CCND2 CL E G H89483473ORPHA111851583123833
HP:0001250HP:0001250Seizures0CD96 CL E G H10225211750C syndrome211750C0796095OMIM134716892606037
HP:0001250HP:0001250Seizures0CD96 CL E G H102251308Chorioretinopathy dominant form microcephalyORPHA134716892606037
HP:0001250HP:0001250Seizures0CDK5 CL E G H1020616342Lissencephaly 7 with cerebellar hypoplasia616342C4225359OMIM15751774123831
HP:0001250HP:0001250Seizures0CDKL5 CL E G H67923095ORPHA1388104611411300203
HP:0001250HP:0001250Seizures0CDKL5 CL E G H6792300672Early infantile epileptic encephalopathy 2300672C1839333OMIM1388104611411300203
HP:0001250HP:0001250Seizures0CENPE CL E G H1062616051Primary autosomal recessive microcephaly 13616051C4015080OMIM141001856117143
HP:0001250HP:0001250Seizures0CEP290 CL E G H8018465ORPHA131088429021610142
HP:0001250HP:0001250Seizures0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM1272821938612395
HP:0001250HP:0001250Seizures0CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM1134421956118502
HP:0001250HP:0001250Seizures0CHRNB2 CL E G H1141605375Epilepsy, nocturnal frontal lobe, type 3605375C1854335OMIM1142971962118507
HP:0001250HP:0001250Seizures0CISD2 CL E G H4938563463ORPHA142324212611507
HP:0001250HP:0001250Seizures0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM174226877616174
HP:0001250HP:0001250Seizures0CLCN4 CL E G H1183300114Mental retardation 49, X-linked300114C3887959OMIM1183342022302910
HP:0001250HP:0001250Seizures0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651882037603959
HP:0001250HP:0001250Seizures0CLIC2 CL E G H1193300886Mental retardation, X-linked, syndromic 32300886C3550913OMIM132402063300138
HP:0001250HP:0001250Seizures0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM1734932074607042
HP:0001250HP:0001250Seizures0CLN5 CL E G H1203256731Ceroid lipofuscinosis neuronal 5256731C1850442OMIM1523522076608102
HP:0001250HP:0001250Seizures0CLN6 CL E G H54982204300Adult neuronal ceroid lipofuscinosis204300C0022797OMIM1853412077606725
HP:0001250HP:0001250Seizures0CLN6 CL E G H54982601780Ceroid lipofuscinosis neuronal 6601780C1866282OMIM1853412077606725
HP:0001250HP:0001250Seizures0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM1443522079607837
HP:0001250HP:0001250Seizures0CLP1 CL E G H10978411493ORPHA123216999608757
HP:0001250HP:0001250Seizures0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM123216999608757
HP:0001250HP:0001250Seizures0CNKSR2 CL E G H22866301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE301008C4538788OMIM1621419701300724
HP:0001250HP:0001250Seizures0CNNM2 CL E G H5480534527ORPHA17131103607803
HP:0001250HP:0001250Seizures0CNNM2 CL E G H54805616418Hypomagnesemia, seizures, and mental retardation616418C4225333OMIM17131103607803
HP:0001250HP:0001250Seizures0CNPY3 CL E G H10695617929EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60617929CN244549OMIM152011968610774
HP:0001250HP:0001250Seizures0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM178106813830604569
HP:0001250HP:0001250Seizures0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0001250HP:0001250Seizures0COG2 CL E G H22796617395CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq617395C4479353OMIM12916546606974
HP:0001250HP:0001250Seizures0COG6 CL E G H57511614576Congenital disorder of glycosylation type 2L614576C3553230OMIM11018918621606977
HP:0001250HP:0001250Seizures0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1364472195120328
HP:0001250HP:0001250Seizures0COL3A1 CL E G H1281231160ORPHA164516472201120180
HP:0001250HP:0001250Seizures0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM11144982202120130
HP:0001250HP:0001250Seizures0COL4A2 CL E G H1284614483Porencephaly 2614483C3280970OMIM1144062203120090
HP:0001250HP:0001250Seizures0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0001250HP:0001250Seizures0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM14330616812606980
HP:0001250HP:0001250Seizures0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM159925302612837
HP:0001250HP:0001250Seizures0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0001250HP:0001250Seizures0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1132082260602125
HP:0001250HP:0001250Seizures0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001250HP:0001250Seizures0COX15 CL E G H1355255241ORPHA151882263603646
HP:0001250HP:0001250Seizures0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151882263603646
HP:0001250HP:0001250Seizures0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0001250HP:0001250Seizures0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0001250HP:0001250Seizures0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151642291300885
HP:0001250HP:0001250Seizures0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0001250HP:0001250Seizures0CPA6 CL E G H57094614417Epilepsy, familial temporal lobe, 5614417C3280730OMIM11716717245609562
HP:0001250HP:0001250Seizures0CPLX1 CL E G H108151941904p partial monosomy syndrome194190C1956097OMIM131432309605032
HP:0001250HP:0001250Seizures0CPS1 CL E G H1373147ORPHA12764452323608307
HP:0001250HP:0001250Seizures0CPS1 CL E G H1373237300Congenital hyperammonemia, type I237300C0751753OMIM12764452323608307
HP:0001250HP:0001250Seizures0CPT1A CL E G H1374156ORPHA1532392328600528
HP:0001250HP:0001250Seizures0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0001250HP:0001250Seizures0CPT2 CL E G H1376228305ORPHA11133662330600650
HP:0001250HP:0001250Seizures0CPT2 CL E G H1376228308ORPHA11133662330600650
HP:0001250HP:0001250Seizures0CPT2 CL E G H1376600649Carnitine palmitoyltransferase II deficiency, infantile600649C1833511OMIM11133662330600650
HP:0001250HP:0001250Seizures0CPT2 CL E G H1376608836Carnitine palmitoyltransferase II deficiency, lethal neonatal608836C1833518OMIM11133662330600650
HP:0001250HP:0001250Seizures0CRB1 CL E G H2341865ORPHA13475442343604210
HP:0001250HP:0001250Seizures0CRB2 CL E G H286204219730Ventriculomegaly with cystic kidney disease219730C1857423OMIM12513618688609720
HP:0001250HP:0001250Seizures0CRBN CL E G H51185607417Mental retardation, autosomal recessive 2607417C1843942OMIM1611030185609262
HP:0001250HP:0001250Seizures0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13647552348600140
HP:0001250HP:0001250Seizures0CRX CL E G H140665ORPHA11072982383602225
HP:0001250HP:0001250Seizures0CTBP1 CL E G H14871941904p partial monosomy syndrome194190C1956097OMIM111642494602618
HP:0001250HP:0001250Seizures0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM13454426169613129
HP:0001250HP:0001250Seizures0CTSA CL E G H5476351ORPHA1391199251613111
HP:0001250HP:0001250Seizures0CTSA CL E G H5476256540Combined deficiency of sialidase AND beta galactosidase256540C0268233OMIM1391199251613111
HP:0001250HP:0001250Seizures0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM111742531603539
HP:0001250HP:0001250Seizures0CTU2 CL E G H348180618142MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME618142OMIM1410328005617057
HP:0001250HP:0001250Seizures0CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM134213760606323
HP:0001250HP:0001250Seizures0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11163032605606530
HP:0001250HP:0001250Seizures0D2HGDH CL E G H728294600721D-2-hydroxyglutaric aciduria 1600721C3152055OMIM13329928358609186
HP:0001250HP:0001250Seizures0DBH CL E G H1621223360Dopamine beta hydroxylase deficiency223360C0342687OMIM1262162689609312
HP:0001250HP:0001250Seizures0DBT CL E G H1629248600Maple syrup urine disease248600C0024776OMIM1783402698248610
HP:0001250HP:0001250Seizures0DCX CL E G H16412148ORPHA11423302714300121
HP:0001250HP:0001250Seizures0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM11423302714300121
HP:0001250HP:0001250Seizures0DDOST CL E G H1650300536ORPHA121062728602202
HP:0001250HP:0001250Seizures0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM194319344617278
HP:0001250HP:0001250Seizures0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM1641222858601465
HP:0001250HP:0001250Seizures0DHCR24 CL E G H1718602398Desmosterolosis602398C1865596OMIM1101372859606418
HP:0001250HP:0001250Seizures0DHCR7 CL E G H1717270400Smith-Lemli-Opitz syndrome270400C0175694OMIM12183762860602858
HP:0001250HP:0001250Seizures0DHDDS CL E G H79947613861Retinitis pigmentosa 59613861C3151227OMIM1812220603608172
HP:0001250HP:0001250Seizures0DIAPH1 CL E G H1729616632Seizures, cortical blindness, and microcephaly syndrome616632C4225261OMIM1153592876602121
HP:0001250HP:0001250Seizures0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA1232022898238331
HP:0001250HP:0001250Seizures0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM1232022898238331
HP:0001250HP:0001250Seizures0DNAJC5 CL E G H80331162350Ceroid lipofuscinosis neuronal 4B autosomal dominant162350C1834207OMIM1228716235611203
HP:0001250HP:0001250Seizures0DNAJC6 CL E G H9829391411ORPHA1148315469608375
HP:0001250HP:0001250Seizures0DNM1 CL E G H1759616346Epileptic encephalopathy, early infantile, 31616346C4225357OMIM1313242972602377
HP:0001250HP:0001250Seizures0DOCK6 CL E G H57572614219Adams-Oliver syndrome 2614219C3280182OMIM12221919189614194
HP:0001250HP:0001250Seizures0DOCK7 CL E G H85440615859Epileptic encephalopathy, early infantile, 23615859C4014492OMIM1744619190615730
HP:0001250HP:0001250Seizures0DOLK CL E G H22845610768Congenital disorder of glycosylation type 1M610768C1835849OMIM11121523406610746
HP:0001250HP:0001250Seizures0DPAGT1 CL E G H179886309ORPHA1421572995191350
HP:0001250HP:0001250Seizures0DPAGT1 CL E G H1798608093Congenital disorder of glycosylation type 1J608093C2931004OMIM1421572995191350
HP:0001250HP:0001250Seizures0DPF2 CL E G H59771465ORPHA19149964601671
HP:0001250HP:0001250Seizures0DPM1 CL E G H881379322ORPHA191203005603503
HP:0001250HP:0001250Seizures0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM191203005603503
HP:0001250HP:0001250Seizures0DPM2 CL E G H8818615042Congenital disorder of glycosylation type 1u615042C3554385OMIM12933006603564
HP:0001250HP:0001250Seizures0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0001250HP:0001250Seizures0DPYS CL E G H1807222748Dihydropyrimidinase deficiency222748C0342803OMIM1301083013613326
HP:0001250HP:0001250Seizures0EARS2 CL E G H124454614924Combined oxidative phosphorylation deficiency 12614924C3554079OMIM13017929419612799
HP:0001250HP:0001250Seizures0EBP CL E G H10682300960MEND syndrome300960C4085243OMIM1912373133300205
HP:0001250HP:0001250Seizures0ECHS1 CL E G H1892255241ORPHA1331843151602292
HP:0001250HP:0001250Seizures0ECM1 CL E G H1893247100Lipid proteinosis247100C0023795OMIM166433153602201
HP:0001250HP:0001250Seizures0EEF1A2 CL E G H1917616409Epileptic encephalopathy, early infantile, 33616409C4225337OMIM1122603192602959
HP:0001250HP:0001250Seizures0EEF1A2 CL E G H1917616393Mental retardation, autosomal dominant 38616393C4225343OMIM1122603192602959
HP:0001250HP:0001250Seizures0EGF CL E G H195034527ORPHA1101633229131530
HP:0001250HP:0001250Seizures0EIF2B1 CL E G H1967603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM19983257606686
HP:0001250HP:0001250Seizures0EIF2B2 CL E G H8892603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM129803258606454
HP:0001250HP:0001250Seizures0EIF2B3 CL E G H8891603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM122833259606273
HP:0001250HP:0001250Seizures0EIF2B4 CL E G H8890603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM133883260606687
HP:0001250HP:0001250Seizures0EIF2B5 CL E G H8893603896Leukoencephalopathy with vanishing white matter603896C1858991OMIM11011623261603945
HP:0001250HP:0001250Seizures0EIF2S3 CL E G H196885282ORPHA151783267300161
HP:0001250HP:0001250Seizures0ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA152017233606421
HP:0001250HP:0001250Seizures0EML1 CL E G H2009600348Band heterotopia600348C1838239OMIM17663330602033
HP:0001250HP:0001250Seizures0ENG CL E G H2022231160ORPHA14977003349131195
HP:0001250HP:0001250Seizures0ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM14977003349131195
HP:0001250HP:0001250Seizures0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11074153373602700
HP:0001250HP:0001250Seizures0EPCAM CL E G H4072144ORPHA18129311529185535
HP:0001250HP:0001250Seizures0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA16849529331615068
HP:0001250HP:0001250Seizures0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0001250HP:0001250Seizures0ERCC1 CL E G H20671466ORPHA18533433126380
HP:0001250HP:0001250Seizures0ERCC2 CL E G H20681466ORPHA11082273434126340
HP:0001250HP:0001250Seizures0ERCC5 CL E G H20731466ORPHA1592633437133530
HP:0001250HP:0001250Seizures0ERCC6 CL E G H20741466ORPHA11404993438609413
HP:0001250HP:0001250Seizures0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM11404993438609413
HP:0001250HP:0001250Seizures0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0001250HP:0001250Seizures0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0001250HP:0001250Seizures0ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0001250HP:0001250Seizures0ERMARD CL E G H55780615544Periventricular nodular heterotopia 6615544C3809872OMIM1214521056615532
HP:0001250HP:0001250Seizures0ESCO2 CL E G H157570269000Roberts-SC phocomelia syndrome269000C0392475OMIM13121527230609353
HP:0001250HP:0001250Seizures0ETHE1 CL E G H2347451188ORPHA13712723287608451
HP:0001250HP:0001250Seizures0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM13712723287608451
HP:0001250HP:0001250Seizures0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM12229137606180
HP:0001250HP:0001250Seizures0EXT2 CL E G H213252022ORPHA12582753513608210
HP:0001250HP:0001250Seizures0EXT2 CL E G H2132616682Seizures, scoliosis, and macrocephaly syndrome616682C4225248OMIM12582753513608210
HP:0001250HP:0001250Seizures0EZH2 CL E G H2146277590Weaver syndrome277590C0265210OMIM1422353527601573
HP:0001250HP:0001250Seizures0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM15419421197611026
HP:0001250HP:0001250Seizures0FADD CL E G H8772306550ORPHA11333573602457
HP:0001250HP:0001250Seizures0FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM11333573602457
HP:0001250HP:0001250Seizures0FAM111A CL E G H63901602361Gracile bone dysplasia602361C1865639OMIM194124725615292
HP:0001250HP:0001250Seizures0FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM194124725615292
HP:0001250HP:0001250Seizures0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM11219124587610531
HP:0001250HP:0001250Seizures0FAN1 CL E G H22909144ORPHA12127329170613534
HP:0001250HP:0001250Seizures0FAR1 CL E G H84188616154Peroxisomal fatty acyl-coa reductase 1 disorder616154C4015344OMIM144026222616107
HP:0001250HP:0001250Seizures0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM12426121062611592
HP:0001250HP:0001250Seizures0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0001250HP:0001250Seizures0FAT4 CL E G H796332136Epidermal nevus vitamin D resistant ricketsORPHA13731723109612411
HP:0001250HP:0001250Seizures0FBP1 CL E G H2203229700Fructose-biphosphatase deficiency229700C0016756OMIM1481483606611570
HP:0001250HP:0001250Seizures0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM14843413601605654
HP:0001250HP:0001250Seizures0FGFR1 CL E G H22602396ORPHA12653883688136350
HP:0001250HP:0001250Seizures0FGFR1 CL E G H2260613001Encephalocraniocutaneous lipomatosis613001C0406612OMIM12653883688136350
HP:0001250HP:0001250Seizures0FGFR1 CL E G H22603157Lachiewicz Sibley syndromeORPHA12653883688136350
HP:0001250HP:0001250Seizures0FGFR2 CL E G H226393259ORPHA11593363689176943
HP:0001250HP:0001250Seizures0FGFR2 CL E G H226393260ORPHA11593363689176943
HP:0001250HP:0001250Seizures0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11593363689176943
HP:0001250HP:0001250Seizures0FGFR3 CL E G H226193274ORPHA1774313690134934
HP:0001250HP:0001250Seizures0FGFR3 CL E G H2261616482Severe achondroplasia with developmental delay and acanthosis nigricans616482C2674173OMIM1774313690134934
HP:0001250HP:0001250Seizures0FGFRL1 CL E G H538341941904p partial monosomy syndrome194190C1956097OMIM171993693605830
HP:0001250HP:0001250Seizures0FKRP CL E G H79147588ORPHA114140217997606596
HP:0001250HP:0001250Seizures0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0001250HP:0001250Seizures0FKTN CL E G H2218588ORPHA1594503622607440
HP:0001250HP:0001250Seizures0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0001250HP:0001250Seizures0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0001250HP:0001250Seizures0FKTN CL E G H2218272VACTERL hydrocephalyORPHA1594503622607440
HP:0001250HP:0001250Seizures0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0001250HP:0001250Seizures0FLNA CL E G H2316300049Periventricular nodular heterotopia 1300049C1848213OMIM127114723754300017
HP:0001250HP:0001250Seizures0FLVCR2 CL E G H55640225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome225790C1856972OMIM11710720105610865
HP:0001250HP:0001250Seizures0FMR1 CL E G H2332300624Fragile X syndrome300624C0016667OMIM1812813775309550
HP:0001250HP:0001250Seizures0FOLR1 CL E G H2348613068Cerebral folate deficiency613068C2751584OMIM1281153791136430
HP:0001250HP:0001250Seizures0FOXG1 CL E G H22903095ORPHA11693573811164874
HP:0001250HP:0001250Seizures0FOXG1 CL E G H2290261144ORPHA11693573811164874
HP:0001250HP:0001250Seizures0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11693573811164874
HP:0001250HP:0001250Seizures0FOXRED1 CL E G H55572255241ORPHA1818326927613622
HP:0001250HP:0001250Seizures0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM1818326927613622
HP:0001250HP:0001250Seizures0FRG1 CL E G H2483158900Facioscapulohumeral muscular dystrophy158900C0238288OMIM121193954601278
HP:0001250HP:0001250Seizures0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM161641362604574
HP:0001250HP:0001250Seizures0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM11614824678610966
HP:0001250HP:0001250Seizures0FUCA1 CL E G H2517230000Fucosidosis230000C0016788OMIM1341094006612280
HP:0001250HP:0001250Seizures0FUCA1 CL E G H2517349Neuroaxonal dystrophy renal tubular acidosisORPHA1341094006612280
HP:0001250HP:0001250Seizures0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM15284019602589
HP:0001250HP:0001250Seizures0FXYD2 CL E G H486154020Renal magnesium wasting154020C1835171OMIM11524026601814
HP:0001250HP:0001250Seizures0GABBR2 CL E G H95683095ORPHA182094507607340
HP:0001250HP:0001250Seizures0GABBR2 CL E G H9568617904Early infantile epileptic encephalopathy 59617904CN870853OMIM182094507607340
HP:0001250HP:0001250Seizures0GABRB1 CL E G H2560617153Epileptic encephalopathy, early infantile, 45617153C4310691OMIM15424081137190
HP:0001250HP:0001250Seizures0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM1162124082600232
HP:0001250HP:0001250Seizures0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM1675264083137192
HP:0001250HP:0001250Seizures0GABRD CL E G H25631606ORPHA172784084137163
HP:0001250HP:0001250Seizures0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM171024092605363
HP:0001250HP:0001250Seizures0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM12514624115606890
HP:0001250HP:0001250Seizures0GAMT CL E G H2593612736Deficiency of guanidinoacetate methyltransferase612736C0574080OMIM1602744136601240
HP:0001250HP:0001250Seizures0GATA4 CL E G H2626251071ORPHA11713414173600576
HP:0001250HP:0001250Seizures0GBA CL E G H26292072ORPHA14942064177606463
HP:0001250HP:0001250Seizures0GBA CL E G H262985212ORPHA14942064177606463
HP:0001250HP:0001250Seizures0GBA CL E G H2629230900Acute neuronopathic Gaucher's disease230900C0268250OMIM14942064177606463
HP:0001250HP:0001250Seizures0GBA CL E G H2629231005Gaucher disease type 3C231005C1856476OMIM14942064177606463
HP:0001250HP:0001250Seizures0GBA CL E G H2629608013Gaucher disease, perinatal lethal608013C1842704OMIM14942064177606463
HP:0001250HP:0001250Seizures0GCH1 CL E G H2643233910GTP cyclohydrolase I deficiency233910C0268467OMIM12522084193600225
HP:0001250HP:0001250Seizures0GCK CL E G H264579299ORPHA18484704195138079
HP:0001250HP:0001250Seizures0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18484704195138079
HP:0001250HP:0001250Seizures0GCM2 CL E G H9247146200Hypoparathyroidism familial isolated146200C1832648OMIM1211164198603716
HP:0001250HP:0001250Seizures0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM121054208238330
HP:0001250HP:0001250Seizures0GDF6 CL E G H39225565ORPHA1211654221601147
HP:0001250HP:0001250Seizures0GEMIN4 CL E G H50628617913NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES617913CN889218OMIM1512815717606969
HP:0001250HP:0001250Seizures0GFAP CL E G H2670203450Alexander's disease203450C0270726OMIM11352334235137780
HP:0001250HP:0001250Seizures0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11921813780606639
HP:0001250HP:0001250Seizures0GJA1 CL E G H26972710Hm syndromeORPHA11091414274121014
HP:0001250HP:0001250Seizures0GJA1 CL E G H2697164200Oculodentodigital dysplasia164200C0812437OMIM11091414274121014
HP:0001250HP:0001250Seizures0GJC2 CL E G H57165320401ORPHA15713317494608803
HP:0001250HP:0001250Seizures0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15713317494608803
HP:0001250HP:0001250Seizures0GJC2 CL E G H57165613206Spastic paraplegia 44, autosomal recessive613206C2750784OMIM15713317494608803
HP:0001250HP:0001250Seizures0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM1371864289300474
HP:0001250HP:0001250Seizures0GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0001250HP:0001250Seizures0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM14267854313238300
HP:0001250HP:0001250Seizures0GLI2 CL E G H2736610829Holoprosencephaly 9610829C1835819OMIM1883724318165230
HP:0001250HP:0001250Seizures0GLI3 CL E G H2737146510Pallister-Hall syndrome146510C0265220OMIM12445374319165240
HP:0001250HP:0001250Seizures0GLRX5 CL E G H51218616859Spasticity, childhood-onset, with hyperglycinemia616859C4225178OMIM164720134609588
HP:0001250HP:0001250Seizures0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM131774341138290
HP:0001250HP:0001250Seizures0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM153924247610516
HP:0001250HP:0001250Seizures0GM2A CL E G H2760309246ORPHA1121264367613109
HP:0001250HP:0001250Seizures0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM1121264367613109
HP:0001250HP:0001250Seizures0GMPPA CL E G H29926869ORPHA1127422923615495
HP:0001250HP:0001250Seizures0GMPPB CL E G H29925588ORPHA14915122932615320
HP:0001250HP:0001250Seizures0GMPPB CL E G H29925363623ORPHA14915122932615320
HP:0001250HP:0001250Seizures0GNAQ CL E G H27763205LBWD syndromeORPHA16584390600998
HP:0001250HP:0001250Seizures0GNAQ CL E G H2776185300Sturge-Weber syndrome185300C0038505OMIM16584390600998
HP:0001250HP:0001250Seizures0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM12792164392139320
HP:0001250HP:0001250Seizures0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM12792164392139320
HP:0001250HP:0001250Seizures0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM1241844396139380
HP:0001250HP:0001250Seizures0GNE CL E G H100203166Ladda Zonana Ramer syndromeORPHA122247523657603824
HP:0001250HP:0001250Seizures0GNE CL E G H10020269921Sialuria269921C0342853OMIM122247523657603824
HP:0001250HP:0001250Seizures0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0001250HP:0001250Seizures0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM111774446603048
HP:0001250HP:0001250Seizures0GRIN1 CL E G H2902617820NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE617820CN737161OMIM1393934584138249
HP:0001250HP:0001250Seizures0GRIN2A CL E G H2903245570Epilepsy, focal, with speech disorder and with or without mental retardation245570C1832814OMIM11079654585138253
HP:0001250HP:0001250Seizures0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM11076294586138252
HP:0001250HP:0001250Seizures0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM12774588602717
HP:0001250HP:0001250Seizures0GSS CL E G H2937266130Gluthathione synthetase deficiency266130C0398746OMIM140884624601002
HP:0001250HP:0001250Seizures0GUCY2D CL E G H300065ORPHA12433884689600179
HP:0001250HP:0001250Seizures0GUF1 CL E G H60558617065Epileptic encephalopathy, early infantile, 40617065C4310737OMIM124525799617064
HP:0001250HP:0001250Seizures0GYS2 CL E G H2998240600Hypoglycemia with deficiency of glycogen synthetase in the liver240600C1855861OMIM1231954707138571
HP:0001250HP:0001250Seizures0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1142014837300056
HP:0001250HP:0001250Seizures0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM1184864839300019
HP:0001250HP:0001250Seizures0HDAC4 CL E G H97591001Branchial arch defectsORPHA11622314063605314
HP:0001250HP:0001250Seizures0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM15622713315300269
HP:0001250HP:0001250Seizures0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM12817626361611642
HP:0001250HP:0001250Seizures0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM12817626361611642
HP:0001250HP:0001250Seizures0HESX1 CL E G H88203157Lachiewicz Sibley syndromeORPHA127464877601802
HP:0001250HP:0001250Seizures0HEXA CL E G H3073272800Tay-Sachs disease272800C0039373OMIM11953524878606869
HP:0001250HP:0001250Seizures0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0001250HP:0001250Seizures0HIBCH CL E G H26275250620Beta-hydroxyisobutyryl-CoA deacylase deficiency250620C0342738OMIM119934908610690
HP:0001250HP:0001250Seizures0HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1764909603825
HP:0001250HP:0001250Seizures0HLA-B CL E G H31063287ORPHA153174932142830
HP:0001250HP:0001250Seizures0HLCS CL E G H314179242ORPHA1493734976609018
HP:0001250HP:0001250Seizures0HLCS CL E G H3141253270Holocarboxylase synthetase deficiency253270C0268581OMIM1493734976609018
HP:0001250HP:0001250Seizures0HMBS CL E G H314579276ORPHA14232104982609806
HP:0001250HP:0001250Seizures0HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232104982609806
HP:0001250HP:0001250Seizures0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM1601365005613898
HP:0001250HP:0001250Seizures0HMGCS2 CL E G H315835701ORPHA1331275008600234
HP:0001250HP:0001250Seizures0HNF1A CL E G H6927324575ORPHA153934311621142410
HP:0001250HP:0001250Seizures0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11572835024600281
HP:0001250HP:0001250Seizures0HNRNPH2 CL E G H3188300986Mental retardation, X-linked, syndromic, Bain type300986C4310814OMIM141745042300610
HP:0001250HP:0001250Seizures0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM1683215048602869
HP:0001250HP:0001250Seizures0HPD CL E G H32422767104-Hydroxyphenylpyruvate dioxygenase deficiency276710C0268623OMIM191005147609695
HP:0001250HP:0001250Seizures0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM1342955173190020
HP:0001250HP:0001250Seizures0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA1342955173190020
HP:0001250HP:0001250Seizures0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171794800300256
HP:0001250HP:0001250Seizures0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11013055213601860
HP:0001250HP:0001250Seizures0HSPD1 CL E G H3329612233Leukodystrophy, hypomyelinating, 4612233C2677109OMIM161285261118190
HP:0001250HP:0001250Seizures0HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM1541329476602194
HP:0001250HP:0001250Seizures0HTRA2 CL E G H274296172483-methylglutaconic aciduria, type VIII617248C4310650OMIM1147714348606441
HP:0001250HP:0001250Seizures0HTT CL E G H3064248111ORPHA181274851613004
HP:0001250HP:0001250Seizures0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM181274851613004
HP:0001250HP:0001250Seizures0IDH2 CL E G H3418613657D-2-hydroxyglutaric aciduria 2613657C3150909OMIM171025383147650
HP:0001250HP:0001250Seizures0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0001250HP:0001250Seizures0IFIH1 CL E G H6413551ORPHA12828618873606951
HP:0001250HP:0001250Seizures0IFT140 CL E G H974265ORPHA17253029077614620
HP:0001250HP:0001250Seizures0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0001250HP:0001250Seizures0IL12B CL E G H35933287ORPHA1191135970161561
HP:0001250HP:0001250Seizures0IMPDH1 CL E G H361465ORPHA1241986052146690
HP:0001250HP:0001250Seizures0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831156081176730
HP:0001250HP:0001250Seizures0INSR CL E G H3643263458ORPHA11964076091147670
HP:0001250HP:0001250Seizures0IQCB1 CL E G H965765ORPHA14315528949609237
HP:0001250HP:0001250Seizures0IQSEC2 CL E G H23096217377ORPHA15753929059300522
HP:0001250HP:0001250Seizures0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM1114514282611720
HP:0001250HP:0001250Seizures0ISCA1 CL E G H81689617613MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5617613C4539919OMIM123228660611006
HP:0001250HP:0001250Seizures0ITGB6 CL E G H36942850ORPHA17606161147558
HP:0001250HP:0001250Seizures0IVD CL E G H371233ORPHA1922586186607036
HP:0001250HP:0001250Seizures0IVD CL E G H3712243500Isovaleryl-CoA dehydrogenase deficiency243500C0268575OMIM1922586186607036
HP:0001250HP:0001250Seizures0JAM3 CL E G H83700613730Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730C3151000OMIM1411615532606871
HP:0001250HP:0001250Seizures0KAT6A CL E G H7994457193ORPHA12921913013601408
HP:0001250HP:0001250Seizures0KAT6B CL E G H235223047ORPHA17622817582605880
HP:0001250HP:0001250Seizures0KAT6B CL E G H2352285201ORPHA17622817582605880
HP:0001250HP:0001250Seizures0KCNA2 CL E G H3737616366Epileptic encephalopathy, early infantile, 32616366C4225350OMIM1211296220176262
HP:0001250HP:0001250Seizures0KCNAB2 CL E G H85141606ORPHA15856229601142
HP:0001250HP:0001250Seizures0KCNB1 CL E G H3745616056Epileptic encephalopathy, early infantile, 26616056C4015119OMIM1302786231600397
HP:0001250HP:0001250Seizures0KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM131516233176258
HP:0001250HP:0001250Seizures0KCNH1 CL E G H3756611816Temple-Baraitser syndrome611816C2678486OMIM113916250603305
HP:0001250HP:0001250Seizures0KCNH1 CL E G H3756135500Zimmermann-Laband syndrome 1135500CN032818OMIM113916250603305
HP:0001250HP:0001250Seizures0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0001250HP:0001250Seizures0KCNJ10 CL E G H3766199343ORPHA1332336256602208
HP:0001250HP:0001250Seizures0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM1332336256602208
HP:0001250HP:0001250Seizures0KCNJ11 CL E G H376779134ORPHA11872276257600937
HP:0001250HP:0001250Seizures0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872276257600937
HP:0001250HP:0001250Seizures0KCNJ13 CL E G H376965ORPHA1101096259603208
HP:0001250HP:0001250Seizures0KCNQ2 CL E G H3785306ORPHA131410566296602235
HP:0001250HP:0001250Seizures0KCNQ2 CL E G H37851949Benign familial neonatal seizuresCN200689ORPHA131410566296602235
HP:0001250HP:0001250Seizures0KCNQ2 CL E G H3785613720Early infantile epileptic encephalopathy 7613720C3150986OMIM131410566296602235
HP:0001250HP:0001250Seizures0KCNQ3 CL E G H3786306ORPHA1256926297602232
HP:0001250HP:0001250Seizures0KCNQ3 CL E G H37861949Benign familial neonatal seizuresCN200689ORPHA1256926297602232
HP:0001250HP:0001250Seizures0KDM5C CL E G H824285279ORPHA15632711114314690
HP:0001250HP:0001250Seizures0KDM6A CL E G H7403147920Kabuki syndrome 1147920CN030661OMIM18131112637300128
HP:0001250HP:0001250Seizures0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0001250HP:0001250Seizures0KIF2A CL E G H3796615411Cortical dysplasia, complex, with other brain malformations 3615411C3809414OMIM171006318602591
HP:0001250HP:0001250Seizures0KIF4A CL E G H24137300923Mental retardation, X-linked 100300923C3890167OMIM1216313339300521
HP:0001250HP:0001250Seizures0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM1692496323602821
HP:0001250HP:0001250Seizures0KIF5C CL E G H3800615282Cortical dysplasia, complex, with other brain malformations 2615282C3809013OMIM16766325604593
HP:0001250HP:0001250Seizures0KLHL15 CL E G H80311300982Mental retardation, X-linked 103300982C4310818OMIM1417229347300980
HP:0001250HP:0001250Seizures0KLHL7 CL E G H5597597297ORPHA11412715646611119
HP:0001250HP:0001250Seizures0KMT2D CL E G H8085147920Kabuki syndrome 1147920CN030661OMIM171213507133602113
HP:0001250HP:0001250Seizures0KRAS CL E G H3845144ORPHA1452746407190070
HP:0001250HP:0001250Seizures0KRAS CL E G H38452396ORPHA1452746407190070
HP:0001250HP:0001250Seizures0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM1452746407190070
HP:0001250HP:0001250Seizures0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA1452746407190070
HP:0001250HP:0001250Seizures0KRIT1 CL E G H889221061ORPHA12743451573604214
HP:0001250HP:0001250Seizures0KRIT1 CL E G H889116860Cerebral cavernous malformation116860C2919945OMIM12743451573604214
HP:0001250HP:0001250Seizures0L1CAM CL E G H38971497Congenital mixovirusORPHA12935196470308840
HP:0001250HP:0001250Seizures0L1CAM CL E G H3897304100Corpus callosum, partial agenesis of, X-linked304100C1839909OMIM12935196470308840
HP:0001250HP:0001250Seizures0L2HGDH CL E G H7994479314ORPHA1818720499609584
HP:0001250HP:0001250Seizures0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM1818720499609584
HP:0001250HP:0001250Seizures0LAGE3 CL E G H82702065ORPHA1321926058300060
HP:0001250HP:0001250Seizures0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM1321926058300060
HP:0001250HP:0001250Seizures0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM138014996482156225
HP:0001250HP:0001250Seizures0LAMB1 CL E G H3912615191Lissencephaly 5615191C3554657OMIM1102146486150240
HP:0001250HP:0001250Seizures0LARGE1 CL E G H9215588ORPHA1284066511603590
HP:0001250HP:0001250Seizures0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0001250HP:0001250Seizures0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM176512151350
HP:0001250HP:0001250Seizures0LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM11514017095604544
HP:0001250HP:0001250Seizures0LCA5 CL E G H16769165ORPHA14924631923611408
HP:0001250HP:0001250Seizures0LETM1 CL E G H39541941904p partial monosomy syndrome194190C1956097OMIM141756556604407
HP:0001250HP:0001250Seizures0LETM1 CL E G H3954280Halal Setton Wang syndromeORPHA141756556604407
HP:0001250HP:0001250Seizures0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1817916429607031
HP:0001250HP:0001250Seizures0LINGO1 CL E G H84894618103MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64618103CN253431OMIM133021205609791
HP:0001250HP:0001250Seizures0LIPT1 CL E G H51601255241ORPHA195429569610284
HP:0001250HP:0001250Seizures0LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM141437216617659
HP:0001250HP:0001250Seizures0LMAN2L CL E G H81562616887Mental retardation, autosomal recessive 52616887C4225168OMIM115719263609552
HP:0001250HP:0001250Seizures0LMBRD1 CL E G H5578879284ORPHA1910423038612625
HP:0001250HP:0001250Seizures0LMNB2 CL E G H8482379087ORPHA151996638150341
HP:0001250HP:0001250Seizures0LRAT CL E G H922765ORPHA1241586685604863
HP:0001250HP:0001250Seizures0LYST CL E G H1130167ORPHA11028071968606897
HP:0001250HP:0001250Seizures0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0001250HP:0001250Seizures0MAN1B1 CL E G H11253614202Mental retardation, autosomal recessive 15614202C3280127OMIM1272596823604346
HP:0001250HP:0001250Seizures0MANBA CL E G H4126118ORPHA1211486831609489
HP:0001250HP:0001250Seizures0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM1232136840176872
HP:0001250HP:0001250Seizures0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0001250HP:0001250Seizures0MBD5 CL E G H55777228402ORPHA19166420444611472
HP:0001250HP:0001250Seizures0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA12620715455300294
HP:0001250HP:0001250Seizures0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12620715455300294
HP:0001250HP:0001250Seizures0MC2R CL E G H4158202200ACTH resistance202200C4049650OMIM1522266930607397
HP:0001250HP:0001250Seizures0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM11082736936609010
HP:0001250HP:0001250Seizures0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11172376937609014
HP:0001250HP:0001250Seizures0MCPH1 CL E G H79648251200Primary autosomal recessive microcephaly 1251200C1855081OMIM1354036954607117
HP:0001250HP:0001250Seizures0MCTP2 CL E G H557841596ORPHA1910125636616297
HP:0001250HP:0001250Seizures0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM19676971154100
HP:0001250HP:0001250Seizures0MECP2 CL E G H4204778ORPHA1105014426990300005
HP:0001250HP:0001250Seizures0MECP2 CL E G H42043095ORPHA1105014426990300005
HP:0001250HP:0001250Seizures0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM1105014426990300005
HP:0001250HP:0001250Seizures0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM1105014426990300005
HP:0001250HP:0001250Seizures0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM1105014426990300005
HP:0001250HP:0001250Seizures0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM1105014426990300005
HP:0001250HP:0001250Seizures0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0001250HP:0001250Seizures0MED12 CL E G H9968309520X-linked mental retardation with marfanoid habitus syndrome309520C0796022OMIM13465011957300188
HP:0001250HP:0001250Seizures0MED17 CL E G H9440613668Microcephaly, postnatal progressive, with seizures and brain atrophy613668C3150921OMIM14792375603810
HP:0001250HP:0001250Seizures0MEF2C CL E G H4208228384ORPHA1892456996600662
HP:0001250HP:0001250Seizures0MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM1892456996600662
HP:0001250HP:0001250Seizures0MEFV CL E G H4210342ORPHA11895616998608107
HP:0001250HP:0001250Seizures0MEN1 CL E G H422197279ORPHA174811317010613733
HP:0001250HP:0001250Seizures0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM146424858614785
HP:0001250HP:0001250Seizures0MFSD2A CL E G H84879616486Primary autosomal recessive microcephaly 15616486C4225310OMIM163325897614397
HP:0001250HP:0001250Seizures0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM151077045602616
HP:0001250HP:0001250Seizures0MGP CL E G H4256245150Keutel syndrome245150C1855607OMIM112817060154870
HP:0001250HP:0001250Seizures0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM181247104602241
HP:0001250HP:0001250Seizures0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM111135317082605908
HP:0001250HP:0001250Seizures0MLH1 CL E G H4292144ORPHA1120331857127120436
HP:0001250HP:0001250Seizures0MLH3 CL E G H27030144ORPHA1324877128604395
HP:0001250HP:0001250Seizures0MLX CL E G H69453287ORPHA111811645602976
HP:0001250HP:0001250Seizures0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1392377150606761
HP:0001250HP:0001250Seizures0MMAA CL E G H166785251100Methylmalonic aciduria cblA type251100C1855109OMIM17626318871607481
HP:0001250HP:0001250Seizures0MMACHC CL E G H2597479282ORPHA19527424525609831
HP:0001250HP:0001250Seizures0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0001250HP:0001250Seizures0MMADHC CL E G H2724979283ORPHA11411425221611935
HP:0001250HP:0001250Seizures0MMADHC CL E G H27249277410Methylmalonic acidemia with homocystinuria cblD277410C1848552OMIM11411425221611935
HP:0001250HP:0001250Seizures0MOCS1 CL E G H4337252150Molybdenum cofactor deficiency, complementation group A252150C1854988OMIM1351817190603707
HP:0001250HP:0001250Seizures0MOCS2 CL E G H4338252160Molybdenum cofactor deficiency, complementation group B252160C1854989OMIM1161187193603708
HP:0001250HP:0001250Seizures0MOGS CL E G H784179330ORPHA1817324862601336
HP:0001250HP:0001250Seizures0MOGS CL E G H7841606056Congenital disorder of glycosylation type 2B606056C1853736OMIM1817324862601336
HP:0001250HP:0001250Seizures0MPDU1 CL E G H952679323ORPHA17857207604041
HP:0001250HP:0001250Seizures0MPDU1 CL E G H9526609180Congenital disorder of glycosylation type 1F609180C1836669OMIM17857207604041
HP:0001250HP:0001250Seizures0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM1242467208603785
HP:0001250HP:0001250Seizures0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM198414508605810
HP:0001250HP:0001250Seizures0MSH2 CL E G H4436144ORPHA1126440967325609309
HP:0001250HP:0001250Seizures0MSH6 CL E G H2956144ORPHA160250967329600678
HP:0001250HP:0001250Seizures0MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM1261057392123101
HP:0001250HP:0001250Seizures0MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0001250HP:0001250Seizures0MT-ATP6 CL E G H4508551500Neuropathy ataxia retinitis pigmentosa syndrome551500C1328349OMIM17414516060
HP:0001250HP:0001250Seizures0MT-TF CL E G H4558545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17481590070
HP:0001250HP:0001250Seizures0MT-TI CL E G H4565545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17488590045
HP:0001250HP:0001250Seizures0MT-TK CL E G H4566545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17489590060
HP:0001250HP:0001250Seizures0MT-TL1 CL E G H4567545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17490590050
HP:0001250HP:0001250Seizures0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001250HP:0001250Seizures0MT-TP CL E G H4571545000Myoclonus with epilepsy with ragged red fibers545000C0162672OMIM17494590075
HP:0001250HP:0001250Seizures0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001250HP:0001250Seizures0MTFMT CL E G H123263255241ORPHA1177629666611766
HP:0001250HP:0001250Seizures0MTHFD1 CL E G H4522617780COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA617780C4540434OMIM114447432172460
HP:0001250HP:0001250Seizures0MTHFR CL E G H4524236250Homocysteinemia due to MTHFR deficiency236250C1856058OMIM11332617436607093
HP:0001250HP:0001250Seizures0MTM1 CL E G H4534596Albright like syndromeORPHA13274997448300415
HP:0001250HP:0001250Seizures0MTOR CL E G H2475616638Smith-Kingsmore syndrome616638C4225259OMIM1335563942601231
HP:0001250HP:0001250Seizures0MTR CL E G H4548250940METHYLCOBALAMIN DEFICIENCY, cblG TYPE250940C1855128OMIM1444287468156570
HP:0001250HP:0001250Seizures0MTRR CL E G H4552236270Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type236270C1856057OMIM1363287473602568
HP:0001250HP:0001250Seizures0MVK CL E G H459829ORPHA11832777530251170
HP:0001250HP:0001250Seizures0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM1453157573160720
HP:0001250HP:0001250Seizures0MYO5A CL E G H464433445ORPHA1121167602160777
HP:0001250HP:0001250Seizures0MYO5A CL E G H464479476ORPHA1121167602160777
HP:0001250HP:0001250Seizures0MYO5A CL E G H4644214450Griscelli syndrome type 1214450C1859194OMIM1121167602160777
HP:0001250HP:0001250Seizures0MYRF CL E G H745618113ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION618113CN253827OMIM17321181608329
HP:0001250HP:0001250Seizures0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001250HP:0001250Seizures0NACC1 CL E G H112939617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination617393C4479333OMIM135520967610672
HP:0001250HP:0001250Seizures0NADK2 CL E G H133686431361ORPHA137026404615787
HP:0001250HP:0001250Seizures0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM137026404615787
HP:0001250HP:0001250Seizures0NAGA CL E G H466879279ORPHA1111307631104170
HP:0001250HP:0001250Seizures0NAGA CL E G H466879281ORPHA1111307631104170
HP:0001250HP:0001250Seizures0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM1111307631104170
HP:0001250HP:0001250Seizures0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM11762847632609701
HP:0001250HP:0001250Seizures0NAGS CL E G H162417237310Hyperammonemia, type III237310C0268543OMIM14911717996608300
HP:0001250HP:0001250Seizures0NALCN CL E G H259232615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1615419C3809454OMIM16524719082611549
HP:0001250HP:0001250Seizures0NAT8L CL E G H339983614063N-acetylaspartate deficiency614063C3279716OMIM1113926742610647
HP:0001250HP:0001250Seizures0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM1103118453608862
HP:0001250HP:0001250Seizures0NCAPD3 CL E G H23310617984MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE617984CN244931OMIM1512128952609276
HP:0001250HP:0001250Seizures0NDE1 CL E G H54820614019Lissencephaly 4614019C3151461OMIM120116117619609449
HP:0001250HP:0001250Seizures0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672077678300658
HP:0001250HP:0001250Seizures0NDUFA10 CL E G H4705255241ORPHA163027684603835
HP:0001250HP:0001250Seizures0NDUFA12 CL E G H55967255241ORPHA143123987614530
HP:0001250HP:0001250Seizures0NDUFA13 CL E G H51079255241ORPHA131617194609435
HP:0001250HP:0001250Seizures0NDUFA2 CL E G H4695255241ORPHA14487685602137
HP:0001250HP:0001250Seizures0NDUFA2 CL E G H4695618235MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13618235OMIM14487685602137
HP:0001250HP:0001250Seizures0NDUFA4 CL E G H4697255241ORPHA12557687603833
HP:0001250HP:0001250Seizures0NDUFA9 CL E G H4704255241ORPHA131167693603834
HP:0001250HP:0001250Seizures0NDUFAF2 CL E G H91942255241ORPHA188728086609653
HP:0001250HP:0001250Seizures0NDUFAF3 CL E G H25915618240MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18618240OMIM196829918612911
HP:0001250HP:0001250Seizures0NDUFAF5 CL E G H79133255241ORPHA11212115899612360
HP:0001250HP:0001250Seizures0NDUFAF6 CL E G H137682255241ORPHA11011328625612392
HP:0001250HP:0001250Seizures0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616320372300403
HP:0001250HP:0001250Seizures0NDUFB11 CL E G H54539300952Linear skin defects with multiple congenital anomalies 3300952C4225421OMIM1616320372300403
HP:0001250HP:0001250Seizures0NDUFB8 CL E G H4714618252MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32618252OMIM14197703602140
HP:0001250HP:0001250Seizures0NDUFS1 CL E G H4719255241ORPHA1281927707157655
HP:0001250HP:0001250Seizures0NDUFS2 CL E G H4720255241ORPHA1241167708602985
HP:0001250HP:0001250Seizures0NDUFS3 CL E G H4722255241ORPHA13587710603846
HP:0001250HP:0001250Seizures0NDUFS4 CL E G H4724255241ORPHA117697711602694
HP:0001250HP:0001250Seizures0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117697711602694
HP:0001250HP:0001250Seizures0NDUFS7 CL E G H374291255241ORPHA18927714601825
HP:0001250HP:0001250Seizures0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM18927714601825
HP:0001250HP:0001250Seizures0NDUFS8 CL E G H4728255241ORPHA113667715602141
HP:0001250HP:0001250Seizures0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM113667715602141
HP:0001250HP:0001250Seizures0NDUFV1 CL E G H4723255241ORPHA1361447716161015
HP:0001250HP:0001250Seizures0NDUFV1 CL E G H4723618225MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4618225OMIM1361447716161015
HP:0001250HP:0001250Seizures0NDUFV2 CL E G H4729255241ORPHA181357717600532
HP:0001250HP:0001250Seizures0NECAP1 CL E G H25977615833Early infantile epileptic encephalopathy 21615833C4014430OMIM118224539611623
HP:0001250HP:0001250Seizures0NELFA CL E G H7469280Halal Setton Wang syndromeORPHA1416712768606026
HP:0001250HP:0001250Seizures0NEU1 CL E G H4758812ORPHA1641027758608272
HP:0001250HP:0001250Seizures0NEU1 CL E G H4758256550Sialidosis, type II256550C0268226OMIM1641027758608272
HP:0001250HP:0001250Seizures0NEXMIF CL E G H34053385277ORPHA14146829433300524
HP:0001250HP:0001250Seizures0NEXMIF CL E G H340533300912Mental retardation, X-linked 98300912C3806730OMIM14146829433300524
HP:0001250HP:0001250Seizures0NFIA CL E G H4774613735Brain malformations and urinary tract defects613735C3151036OMIM117797784600727
HP:0001250HP:0001250Seizures0NHLRC2 CL E G H374354618278618278618278OMIM1228247310
HP:0001250HP:0001250Seizures0NIN CL E G H51199614851Seckel syndrome 7614851C3553870OMIM1813314906608684
HP:0001250HP:0001250Seizures0NIPA1 CL E G H123606600363Spastic paraplegia 6600363C1838192OMIM11748317043608145
HP:0001250HP:0001250Seizures0NIPBL CL E G H25836122470Cornelia de Lange syndrome 1122470CN029798OMIM143780928862608667
HP:0001250HP:0001250Seizures0NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM13632414287300427
HP:0001250HP:0001250Seizures0NMNAT1 CL E G H6480265ORPHA17611217877608700
HP:0001250HP:0001250Seizures0NNT CL E G H23530614736Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency614736C3553587OMIM145527863607878
HP:0001250HP:0001250Seizures0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0001250HP:0001250Seizures0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM13795917883600276
HP:0001250HP:0001250Seizures0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM1277814537601015
HP:0001250HP:0001250Seizures0NPRL2 CL E G H10641617116Epilepsy, familial focal, with variable foci 2617116C4310709OMIM182424969607072
HP:0001250HP:0001250Seizures0NPRL3 CL E G H8131617118Epilepsy, familial focal, with variable foci 3617118C4310708OMIM11129914124600928
HP:0001250HP:0001250Seizures0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM1141817989164790
HP:0001250HP:0001250Seizures0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA1141817989164790
HP:0001250HP:0001250Seizures0NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM1141817989164790
HP:0001250HP:0001250Seizures0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM152589614234606681
HP:0001250HP:0001250Seizures0NSD2 CL E G H74681941904p partial monosomy syndrome194190C1956097OMIM11422012766602952
HP:0001250HP:0001250Seizures0NSD2 CL E G H7468280Halal Setton Wang syndromeORPHA11422012766602952
HP:0001250HP:0001250Seizures0NSDHL CL E G H50814300831NSDHL-Related Disorders300831C3151781OMIM13125613398300275
HP:0001250HP:0001250Seizures0NTNG1 CL E G H228543095ORPHA143023319608818
HP:0001250HP:0001250Seizures0NUP107 CL E G H571222065ORPHA1124029914607617
HP:0001250HP:0001250Seizures0OCLN CL E G H1005066581229ORPHA120618104602876
HP:0001250HP:0001250Seizures0OCLN CL E G H100506658251290Band-like calcification with simplified gyration and polymicrogyria251290C3489725OMIM120618104602876
HP:0001250HP:0001250Seizures0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA12643428108300535
HP:0001250HP:0001250Seizures0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0001250HP:0001250Seizures0OFD1 CL E G H84812750ORPHA11625102567300170
HP:0001250HP:0001250Seizures0OFD1 CL E G H8481311200Oral-facial-digital syndrome311200C1510460OMIM11625102567300170
HP:0001250HP:0001250Seizures0OPHN1 CL E G H4983137831ORPHA1432458148300127
HP:0001250HP:0001250Seizures0OPHN1 CL E G H4983300486Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486C1845366OMIM1432458148300127
HP:0001250HP:0001250Seizures0OSGEP CL E G H556442065ORPHA1174618028610107
HP:0001250HP:0001250Seizures0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM1174618028610107
HP:0001250HP:0001250Seizures0OTC CL E G H5009311250Ornithine carbamoyltransferase deficiency311250C0268542OMIM15276418512300461
HP:0001250HP:0001250Seizures0OTUD6B CL E G H51633505237ORPHA164724281612021
HP:0001250HP:0001250Seizures0OTUD6B CL E G H51633617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies617452C4479520OMIM164724281612021
HP:0001250HP:0001250Seizures0OTX2 CL E G H50153157Lachiewicz Sibley syndromeORPHA178988522600037
HP:0001250HP:0001250Seizures0OTX2 CL E G H5015610125Microphthalmia syndromic 5610125C1864690OMIM178988522600037
HP:0001250HP:0001250Seizures0PACS1 CL E G H55690615009Schuurs-hoeijmakers syndrome615009C3554343OMIM129130032607492
HP:0001250HP:0001250Seizures0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129223794610423
HP:0001250HP:0001250Seizures0PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA11702558574601545
HP:0001250HP:0001250Seizures0PAFAH1B1 CL E G H5048607432Lissencephaly 1607432C0431375OMIM11702558574601545
HP:0001250HP:0001250Seizures0PAH CL E G H505379254ORPHA19809208582612349
HP:0001250HP:0001250Seizures0PAH CL E G H5053261600Phenylketonuria261600C0031485OMIM19809208582612349
HP:0001250HP:0001250Seizures0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM1142288592300142
HP:0001250HP:0001250Seizures0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM198938616167409
HP:0001250HP:0001250Seizures0PC CL E G H5091266150Pyruvate carboxylase deficiency266150C0034341OMIM1423078636608786
HP:0001250HP:0001250Seizures0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11493878653232000
HP:0001250HP:0001250Seizures0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM11313018654232050
HP:0001250HP:0001250Seizures0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM1101238724614168
HP:0001250HP:0001250Seizures0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1612013406604918
HP:0001250HP:0001250Seizures0PCYT1A CL E G H513065ORPHA1201438754123695
HP:0001250HP:0001250Seizures0PDCD10 CL E G H11235221061ORPHA1791108761609118
HP:0001250HP:0001250Seizures0PDCD10 CL E G H11235603285Cerebral cavernous malformations 3603285C1864040OMIM1791108761609118
HP:0001250HP:0001250Seizures0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM15778772610652
HP:0001250HP:0001250Seizures0PDGFB CL E G H51551980ORPHA123448800190040
HP:0001250HP:0001250Seizures0PDGFRB CL E G H51591980ORPHA1241508804173410
HP:0001250HP:0001250Seizures0PDHA1 CL E G H5160255241ORPHA11934088806300502
HP:0001250HP:0001250Seizures0PDHA1 CL E G H5160312170Pyruvate dehydrogenase E1-alpha deficiency312170C1839413OMIM11934088806300502
HP:0001250HP:0001250Seizures0PDHX CL E G H8050245349Pyruvate dehydrogenase E3-binding protein deficiency245349C1855553OMIM12218621350608769
HP:0001250HP:0001250Seizures0PDP1 CL E G H54704608782Pyruvate dehydrogenase phosphatase deficiency608782C1837429OMIM13729279605993
HP:0001250HP:0001250Seizures0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM133866107600733
HP:0001250HP:0001250Seizures0PET100 CL E G H100131801255241ORPHA122840038614770
HP:0001250HP:0001250Seizures0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122840038614770
HP:0001250HP:0001250Seizures0PEX1 CL E G H5189912ORPHA11404898850602136
HP:0001250HP:0001250Seizures0PEX1 CL E G H518944MYBPC1-related conditionORPHA11404898850602136
HP:0001250HP:0001250Seizures0PEX1 CL E G H5189601539Peroxisome biogenesis disorder 1B601539CN168921OMIM11404898850602136
HP:0001250HP:0001250Seizures0PEX1 CL E G