Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system electrophysiology (HP:0001311)help
Parent Node:
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Abnormality of central nervous system electrophysiology (HP:0030178)help
..Starting node
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EEG abnormality (HP:0002353)help
Term ID: 2353
Name: EEG abnormality
Synonym: Abnormal EEG; Abnormal electroencephalogram; EEG abnormalities; Electroencephalogram abnormal; Electroencephalogram abnormalities
Definition: Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Comments:
Reference: HP:0002353
Genes and Diseases:
 
       Child Nodes:
........expandEEG with photoparoxysmal response (HP:0010852) help
................... HP:0011211 EEG with photoparoxysmal response grade I
................... HP:0011212 EEG with photoparoxysmal response grade II
................... HP:0011213 EEG with photoparoxysmal response grade III
................... HP:0011214 EEG with photoparoxysmal response grade IV
........expandEEG with constitutional variants (HP:0011176) help
................... HP:0010846 EEG with persistent abnormal rhythmic activity
................... HP:0011177 EEG with 4-5/second background activity
................... HP:0011178 Alpha-EEG
................... HP:0011179 Beta-EEG
................... HP:0011181 Low voltage EEG
........expandEpileptiform EEG discharges (HP:0011182) help
................... HP:0010858 EEG with hyperventilation-induced epileptiform discharges
................... HP:0011185 EEG with focal epileptiform discharges
................... HP:0011198 EEG with generalized epileptiform discharges
........expandEEG with changes in voltage (HP:0011201) help
................... HP:0010854 EEG with generalized low amplitude activity
................... HP:0010855 EEG with localized low amplitude activity
........expandEEG with diffuse acceleration (HP:0011202) help
................... HP:0011179 Beta-EEG
........expandEEG with abnormally slow frequencies (HP:0011203) help
................... HP:0010843 EEG with focal slow activity
................... HP:0010844 EEG with multifocal slow activity
................... HP:0010845 EEG with generalized slow activity
........expandInterictal EEG abnormality (HP:0025373) help
................... HP:0002372 Normal interictal EEG
................... HP:0031491 Continuous spike and waves during slow sleep
................... HP:0031518 Absent posterior alpha rhythm
................... HP:0031535 Increased theta frequency activity in EEG

 Sister Nodes: 
..expandAbnormal auditory evoked potentials (HP:0006958) help
..expandAbnormal motor evoked potentials (HP:0012896) help
..expandAbnormality of somatosensory evoked potentials (HP:0007377) help
..expandJerk-locked premyoclonus spikes (HP:0001351) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002353HP:0002353EEG abnormality0AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM142921022612035
HP:0002353HP:0002353EEG abnormality0AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM111817366605113
HP:0002353HP:0002353EEG abnormality0ABCA5 CL E G H234612026Hemoglobin EC0019024ORPHA15135612503
HP:0002353HP:0002353EEG abnormality0ACOX1 CL E G H512971ORPHA1517119609751
HP:0002353HP:0002353EEG abnormality0ADRA2B CL E G H15186814ORPHA180282104260
HP:0002353HP:0002353EEG abnormality0AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002353HP:0002353EEG abnormality0AHSG CL E G H1972850ORPHA161349138680
HP:0002353HP:0002353EEG abnormality0AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM17110648603605
HP:0002353HP:0002353EEG abnormality0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0002353HP:0002353EEG abnormality0ALDH7A1 CL E G H5013006ORPHA1761877107323
HP:0002353HP:0002353EEG abnormality0AP1S2 CL E G H890585329ORPHA1218560300629
HP:0002353HP:0002353EEG abnormality0AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0002353HP:0002353EEG abnormality0ARG1 CL E G H38390ORPHA1357663608313
HP:0002353HP:0002353EEG abnormality0ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM167918060300382
HP:0002353HP:0002353EEG abnormality0ASAH1 CL E G H4272590ORPHA1712735613468
HP:0002353HP:0002353EEG abnormality0ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1554746608310
HP:0002353HP:0002353EEG abnormality0ASPA CL E G H443314911ORPHA1319756608034
HP:0002353HP:0002353EEG abnormality0B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0002353HP:0002353EEG abnormality0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0002353HP:0002353EEG abnormality0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0002353HP:0002353EEG abnormality0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0002353HP:0002353EEG abnormality0CCDC47 CL E G H57003618268618268618268OMIM127248560
HP:0002353HP:0002353EEG abnormality0CDKL5 CL E G H67923095ORPHA1152711411300203
HP:0002353HP:0002353EEG abnormality0CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM115261917602119
HP:0002353HP:0002353EEG abnormality0CLN8 CL E G H20551947ORPHA15412079607837
HP:0002353HP:0002353EEG abnormality0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0002353HP:0002353EEG abnormality0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0002353HP:0002353EEG abnormality0CNTN2 CL E G H690086814ORPHA15182172190197
HP:0002353HP:0002353EEG abnormality0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002353HP:0002353EEG abnormality0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0002353HP:0002353EEG abnormality0CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1982510114025
HP:0002353HP:0002353EEG abnormality0CTNND2 CL E G H150186814ORPHA13132516604275
HP:0002353HP:0002353EEG abnormality0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11192718600811
HP:0002353HP:0002353EEG abnormality0DEAF1 CL E G H10522819ORPHA145214677602635
HP:0002353HP:0002353EEG abnormality0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0002353HP:0002353EEG abnormality0DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM110619344617278
HP:0002353HP:0002353EEG abnormality0DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM131820603608172
HP:0002353HP:0002353EEG abnormality0DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0002353HP:0002353EEG abnormality0EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0002353HP:0002353EEG abnormality0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0002353HP:0002353EEG abnormality0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0002353HP:0002353EEG abnormality0ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0002353HP:0002353EEG abnormality0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA111963434126340
HP:0002353HP:0002353EEG abnormality0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA13683435133510
HP:0002353HP:0002353EEG abnormality0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA16023436133520
HP:0002353HP:0002353EEG abnormality0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14253437133530
HP:0002353HP:0002353EEG abnormality0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002353HP:0002353EEG abnormality0FKRP CL E G H79147588ORPHA178717997606596
HP:0002353HP:0002353EEG abnormality0FKTN CL E G H2218588ORPHA17833622607440
HP:0002353HP:0002353EEG abnormality0FKTN CL E G H2218272VACTERL hydrocephalyORPHA17833622607440
HP:0002353HP:0002353EEG abnormality0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0002353HP:0002353EEG abnormality0FLII CL E G H2314819ORPHA11543750600362
HP:0002353HP:0002353EEG abnormality0FOXG1 CL E G H22903095ORPHA16143811164874
HP:0002353HP:0002353EEG abnormality0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002353HP:0002353EEG abnormality0GABBR2 CL E G H95683095ORPHA16824507607340
HP:0002353HP:0002353EEG abnormality0GABRA1 CL E G H255433069ORPHA15194075137160
HP:0002353HP:0002353EEG abnormality0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0002353HP:0002353EEG abnormality0GABRD CL E G H25631606ORPHA13974084137163
HP:0002353HP:0002353EEG abnormality0GABRG2 CL E G H256633069ORPHA15284087137164
HP:0002353HP:0002353EEG abnormality0GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0002353HP:0002353EEG abnormality0GMPPB CL E G H29925588ORPHA127322932615320
HP:0002353HP:0002353EEG abnormality0GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM13104396139380
HP:0002353HP:0002353EEG abnormality0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002353HP:0002353EEG abnormality0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0002353HP:0002353EEG abnormality0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0002353HP:0002353EEG abnormality0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM14174601138945
HP:0002353HP:0002353EEG abnormality0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM123929853617245
HP:0002353HP:0002353EEG abnormality0HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1734909603825
HP:0002353HP:0002353EEG abnormality0HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM13275005613898
HP:0002353HP:0002353EEG abnormality0HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM16925048602869
HP:0002353HP:0002353EEG abnormality0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA15475173190020
HP:0002353HP:0002353EEG abnormality0HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17354851613004
HP:0002353HP:0002353EEG abnormality0IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0002353HP:0002353EEG abnormality0ITGB6 CL E G H36942850ORPHA1956161147558
HP:0002353HP:0002353EEG abnormality0KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002353HP:0002353EEG abnormality0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0002353HP:0002353EEG abnormality0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0002353HP:0002353EEG abnormality0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14406407190070
HP:0002353HP:0002353EEG abnormality0LAGE3 CL E G H82702065ORPHA123326058300060
HP:0002353HP:0002353EEG abnormality0LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM110716494604349
HP:0002353HP:0002353EEG abnormality0LARGE1 CL E G H9215588ORPHA16586511603590
HP:0002353HP:0002353EEG abnormality0LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM126717095604544
HP:0002353HP:0002353EEG abnormality0LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM16137216617659
HP:0002353HP:0002353EEG abnormality0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0002353HP:0002353EEG abnormality0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0002353HP:0002353EEG abnormality0MCOLN1 CL E G H57192578Akesson syndromeORPHA153813356605248
HP:0002353HP:0002353EEG abnormality0MECP2 CL E G H4204778ORPHA117786990300005
HP:0002353HP:0002353EEG abnormality0MECP2 CL E G H42043095ORPHA117786990300005
HP:0002353HP:0002353EEG abnormality0MECP2 CL E G H4204300055Mental retardation, X-linked, syndromic 13300055C1968550OMIM117786990300005
HP:0002353HP:0002353EEG abnormality0MECP2 CL E G H4204312750Rett syndrome312750C0035372OMIM117786990300005
HP:0002353HP:0002353EEG abnormality0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM117786990300005
HP:0002353HP:0002353EEG abnormality0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM168728486611124
HP:0002353HP:0002353EEG abnormality0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11797693603834
HP:0002353HP:0002353EEG abnormality0NEU1 CL E G H4758812ORPHA11477758608272
HP:0002353HP:0002353EEG abnormality0NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM139214287300427
HP:0002353HP:0002353EEG abnormality0NOTCH3 CL E G H4854136ORPHA111337883600276
HP:0002353HP:0002353EEG abnormality0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12507989164790
HP:0002353HP:0002353EEG abnormality0NTNG1 CL E G H228543095ORPHA14523319608818
HP:0002353HP:0002353EEG abnormality0NUP107 CL E G H571222065ORPHA114929914607617
HP:0002353HP:0002353EEG abnormality0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA15088108300535
HP:0002353HP:0002353EEG abnormality0OSGEP CL E G H556442065ORPHA110618028610107
HP:0002353HP:0002353EEG abnormality0PAFAH1B1 CL E G H5048531Acute myeloblastic leukemia type 6ORPHA14398574601545
HP:0002353HP:0002353EEG abnormality0PAX6 CL E G H5080137902ORPHA16888620607108
HP:0002353HP:0002353EEG abnormality0PCDH19 CL E G H5752633069ORPHA1112014270300460
HP:0002353HP:0002353EEG abnormality0PCK1 CL E G H5105261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic261680C1849814OMIM11708724614168
HP:0002353HP:0002353EEG abnormality0PEX1 CL E G H5189912ORPHA112058850602136
HP:0002353HP:0002353EEG abnormality0PEX1 CL E G H518944MYBPC1-related conditionORPHA112058850602136
HP:0002353HP:0002353EEG abnormality0PEX10 CL E G H5192912ORPHA16548851602859
HP:0002353HP:0002353EEG abnormality0PEX10 CL E G H519244MYBPC1-related conditionORPHA16548851602859
HP:0002353HP:0002353EEG abnormality0PEX11B CL E G H8799912ORPHA13508853603867
HP:0002353HP:0002353EEG abnormality0PEX11B CL E G H879944MYBPC1-related conditionORPHA13508853603867
HP:0002353HP:0002353EEG abnormality0PEX12 CL E G H5193912ORPHA13608854601758
HP:0002353HP:0002353EEG abnormality0PEX12 CL E G H519344MYBPC1-related conditionORPHA13608854601758
HP:0002353HP:0002353EEG abnormality0PEX13 CL E G H5194912ORPHA13978855601789
HP:0002353HP:0002353EEG abnormality0PEX13 CL E G H519444MYBPC1-related conditionORPHA13978855601789
HP:0002353HP:0002353EEG abnormality0PEX14 CL E G H5195912ORPHA13748856601791
HP:0002353HP:0002353EEG abnormality0PEX14 CL E G H519544MYBPC1-related conditionORPHA13748856601791
HP:0002353HP:0002353EEG abnormality0PEX16 CL E G H9409912ORPHA13468857603360
HP:0002353HP:0002353EEG abnormality0PEX16 CL E G H940944MYBPC1-related conditionORPHA13468857603360
HP:0002353HP:0002353EEG abnormality0PEX19 CL E G H5824912ORPHA13049713600279
HP:0002353HP:0002353EEG abnormality0PEX19 CL E G H582444MYBPC1-related conditionORPHA13049713600279
HP:0002353HP:0002353EEG abnormality0PEX2 CL E G H5828912ORPHA13669717170993
HP:0002353HP:0002353EEG abnormality0PEX2 CL E G H582844MYBPC1-related conditionORPHA13669717170993
HP:0002353HP:0002353EEG abnormality0PEX26 CL E G H55670912ORPHA143122965608666
HP:0002353HP:0002353EEG abnormality0PEX26 CL E G H5567044MYBPC1-related conditionORPHA143122965608666
HP:0002353HP:0002353EEG abnormality0PEX3 CL E G H8504912ORPHA12718858603164
HP:0002353HP:0002353EEG abnormality0PEX3 CL E G H850444MYBPC1-related conditionORPHA12718858603164
HP:0002353HP:0002353EEG abnormality0PEX5 CL E G H5830912ORPHA16899719600414
HP:0002353HP:0002353EEG abnormality0PEX5 CL E G H583044MYBPC1-related conditionORPHA16899719600414
HP:0002353HP:0002353EEG abnormality0PEX6 CL E G H5190912ORPHA110858859601498
HP:0002353HP:0002353EEG abnormality0PEX6 CL E G H519044MYBPC1-related conditionORPHA110858859601498
HP:0002353HP:0002353EEG abnormality0PHF6 CL E G H84295301900Borjeson-Forssman-Lehmann syndrome301900C0265339OMIM128518145300414
HP:0002353HP:0002353EEG abnormality0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM116114938610272
HP:0002353HP:0002353EEG abnormality0PLPBP CL E G H112123006ORPHA1909457604436
HP:0002353HP:0002353EEG abnormality0POMGNT1 CL E G H55624588ORPHA194319139606822
HP:0002353HP:0002353EEG abnormality0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM194319139606822
HP:0002353HP:0002353EEG abnormality0POMT1 CL E G H10585588ORPHA17379202607423
HP:0002353HP:0002353EEG abnormality0POMT2 CL E G H29954588ORPHA176619743607439
HP:0002353HP:0002353EEG abnormality0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM15169325600722
HP:0002353HP:0002353EEG abnormality0PRDM16 CL E G H639761606ORPHA1108114000605557
HP:0002353HP:0002353EEG abnormality0PRODH CL E G H5625239500Proline dehydrogenase deficiency239500C0268529OMIM16399453606810
HP:0002353HP:0002353EEG abnormality0RAI1 CL E G H10743819ORPHA111499834607642
HP:0002353HP:0002353EEG abnormality0RAI1 CL E G H107431713ORPHA111499834607642
HP:0002353HP:0002353EEG abnormality0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM111499834607642
HP:0002353HP:0002353EEG abnormality0RERE CL E G H4731606ORPHA13439965605226
HP:0002353HP:0002353EEG abnormality0RMRP CL E G H6023175ORPHA162510031157660
HP:0002353HP:0002353EEG abnormality0ROGDI CL E G H796411946ORPHA147329478614574
HP:0002353HP:0002353EEG abnormality0SAMD12 CL E G H40147486814ORPHA16231750618073
HP:0002353HP:0002353EEG abnormality0SCN1A CL E G H632333069ORPHA1346410585182389
HP:0002353HP:0002353EEG abnormality0SCN1B CL E G H632433069ORPHA144410586600235
HP:0002353HP:0002353EEG abnormality0SCN2A CL E G H632633069ORPHA1191410588182390
HP:0002353HP:0002353EEG abnormality0SCN9A CL E G H633533069ORPHA1190710597603415
HP:0002353HP:0002353EEG abnormality0SH2B1 CL E G H25970261197ORPHA120430417608937
HP:0002353HP:0002353EEG abnormality0SIM1 CL E G H6492171829ORPHA116610882603128
HP:0002353HP:0002353EEG abnormality0SKI CL E G H64971606ORPHA191010896164780
HP:0002353HP:0002353EEG abnormality0SLC12A6 CL E G H99901496Congenital mitral stenosisORPHA191110914604878
HP:0002353HP:0002353EEG abnormality0SLC13A5 CL E G H2841111946ORPHA156823089608305
HP:0002353HP:0002353EEG abnormality0SLC13A5 CL E G H2841113006ORPHA156823089608305
HP:0002353HP:0002353EEG abnormality0SLC2A1 CL E G H651371277ORPHA182711005138140
HP:0002353HP:0002353EEG abnormality0SLC2A1 CL E G H6513606777GLUT1 deficiency syndrome 1606777CN030711OMIM182711005138140
HP:0002353HP:0002353EEG abnormality0SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM182711005138140
HP:0002353HP:0002353EEG abnormality0SLC2A3 CL E G H651539946,XX testicular disorder of sex developmentC2936420ORPHA17111007138170
HP:0002353HP:0002353EEG abnormality0SLC6A19 CL E G H3400242116Encephalopathy-basal ganglia-calcificationORPHA137127960608893
HP:0002353HP:0002353EEG abnormality0SNIP1 CL E G H79753614501Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501C3281055OMIM113230587608241
HP:0002353HP:0002353EEG abnormality0SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM137711164182279
HP:0002353HP:0002353EEG abnormality0SPATA5 CL E G H166378616577Epilepsy, hearing loss, and mental retardation syndrome616577C4225276OMIM164618119613940
HP:0002353HP:0002353EEG abnormality0STXBP1 CL E G H68123095ORPHA187111444602926
HP:0002353HP:0002353EEG abnormality0STXBP1 CL E G H681233069ORPHA187111444602926
HP:0002353HP:0002353EEG abnormality0SYNGAP1 CL E G H8831612621Mental retardation, autosomal dominant 5612621C2675473OMIM1108611497603384
HP:0002353HP:0002353EEG abnormality0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM15011509185605
HP:0002353HP:0002353EEG abnormality0SZT2 CL E G H23334615476Early infantile epileptic encephalopathy 18615476C3809624OMIM1234229040615463
HP:0002353HP:0002353EEG abnormality0TBC1D24 CL E G H5746579500ORPHA179529203613577
HP:0002353HP:0002353EEG abnormality0TP53RK CL E G H1128582065ORPHA14016197608679
HP:0002353HP:0002353EEG abnormality0TPRKB CL E G H510022065ORPHA12224259608680
HP:0002353HP:0002353EEG abnormality0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM17620286617840
HP:0002353HP:0002353EEG abnormality0TSC1 CL E G H7248805ORPHA1369012362605284
HP:0002353HP:0002353EEG abnormality0TSC2 CL E G H7249805ORPHA1849512363191092
HP:0002353HP:0002353EEG abnormality0TYROBP CL E G H7305221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy221770C1857316OMIM18512449604142
HP:0002353HP:0002353EEG abnormality0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM199312496601623
HP:0002353HP:0002353EEG abnormality0WDR4 CL E G H107852065ORPHA114712756605924
HP:0002353HP:0002353EEG abnormality0WDR73 CL E G H849422065ORPHA113825928616144
HP:0002353HP:0002353EEG abnormality0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA127612814611153
HP:0002353HP:0002353EEG abnormality0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA166912816613208
HP:0002353HP:0002353EEG abnormality0YWHAE CL E G H7531531Acute myeloblastic leukemia type 6ORPHA117712851605066
HP:0002353HP:0002353EEG abnormality0YWHAG CL E G H7532617665EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 56617665C4540034OMIM112812852605356
HP:0002353HP:0011203EEG with abnormally slow frequencies1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM142921022612035
HP:0002353HP:0011201EEG with changes in voltage1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM142921022612035
HP:0002353HP:0011176EEG with constitutional variants1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM142921022612035
HP:0002353HP:0011202EEG with diffuse acceleration1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM142921022612035
HP:0002353HP:0010852EEG with photoparoxysmal response1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM142921022612035
HP:0002353HP:0025373Interictal EEG abnormality1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM142921022612035
HP:0002353HP:0011203EEG with abnormally slow frequencies1AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM111817366605113
HP:0002353HP:0011201EEG with changes in voltage1AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM111817366605113
HP:0002353HP:0011176EEG with constitutional variants1AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM111817366605113
HP:0002353HP:0011202EEG with diffuse acceleration1AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM111817366605113
HP:0002353HP:0010852EEG with photoparoxysmal response1AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM111817366605113
HP:0002353HP:0025373Interictal EEG abnormality1AASS CL E G H10157268700Saccharopinuria268700C0268556OMIM111817366605113
HP:0002353HP:0011203EEG with abnormally slow frequencies1ABCA5 CL E G H234612026Hemoglobin EC0019024ORPHA15135612503
HP:0002353HP:0011201EEG with changes in voltage1ABCA5 CL E G H234612026Hemoglobin EC0019024ORPHA15135612503
HP:0002353HP:0011176EEG with constitutional variants1ABCA5 CL E G H234612026Hemoglobin EC0019024ORPHA15135612503
HP:0002353HP:0011202EEG with diffuse acceleration1ABCA5 CL E G H234612026Hemoglobin EC0019024ORPHA15135612503
HP:0002353HP:0010852EEG with photoparoxysmal response1ABCA5 CL E G H234612026Hemoglobin EC0019024ORPHA15135612503
HP:0002353HP:0025373Interictal EEG abnormality1ABCA5 CL E G H234612026Hemoglobin EC0019024ORPHA15135612503
HP:0002353HP:0011203EEG with abnormally slow frequencies1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002353HP:0011201EEG with changes in voltage1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002353HP:0011176EEG with constitutional variants1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002353HP:0011202EEG with diffuse acceleration1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002353HP:0010852EEG with photoparoxysmal response1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002353HP:0025373Interictal EEG abnormality1ACOX1 CL E G H512971ORPHA1517119609751
HP:0002353HP:0011203EEG with abnormally slow frequencies1ADRA2B CL E G H15186814ORPHA180282104260
HP:0002353HP:0011201EEG with changes in voltage1ADRA2B CL E G H15186814ORPHA180282104260
HP:0002353HP:0011176EEG with constitutional variants1ADRA2B CL E G H15186814ORPHA180282104260
HP:0002353HP:0011202EEG with diffuse acceleration1ADRA2B CL E G H15186814ORPHA180282104260
HP:0002353HP:0010852EEG with photoparoxysmal response1ADRA2B CL E G H15186814ORPHA180282104260
HP:0002353HP:0025373Interictal EEG abnormality1ADRA2B CL E G H15186814ORPHA180282104260
HP:0002353HP:0011203EEG with abnormally slow frequencies1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002353HP:0011201EEG with changes in voltage1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002353HP:0011176EEG with constitutional variants1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002353HP:0011202EEG with diffuse acceleration1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002353HP:0010852EEG with photoparoxysmal response1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002353HP:0025373Interictal EEG abnormality1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0002353HP:0011203EEG with abnormally slow frequencies1AHSG CL E G H1972850ORPHA161349138680
HP:0002353HP:0011201EEG with changes in voltage1AHSG CL E G H1972850ORPHA161349138680
HP:0002353HP:0011176EEG with constitutional variants1AHSG CL E G H1972850ORPHA161349138680
HP:0002353HP:0011202EEG with diffuse acceleration1AHSG CL E G H1972850ORPHA161349138680
HP:0002353HP:0010852EEG with photoparoxysmal response1AHSG CL E G H1972850ORPHA161349138680
HP:0002353HP:0025373Interictal EEG abnormality1AHSG CL E G H1972850ORPHA161349138680
HP:0002353HP:0011203EEG with abnormally slow frequencies1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM17110648603605
HP:0002353HP:0011201EEG with changes in voltage1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM17110648603605
HP:0002353HP:0011176EEG with constitutional variants1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM17110648603605
HP:0002353HP:0011202EEG with diffuse acceleration1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM17110648603605
HP:0002353HP:0010852EEG with photoparoxysmal response1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM17110648603605
HP:0002353HP:0025373Interictal EEG abnormality1AIMP1 CL E G H9255260600Leukodystrophy, hypomyelinating 3260600C1850053OMIM17110648603605
HP:0002353HP:0011203EEG with abnormally slow frequencies1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0002353HP:0011201EEG with changes in voltage1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0002353HP:0011176EEG with constitutional variants1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0002353HP:0011202EEG with diffuse acceleration1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0002353HP:0010852EEG with photoparoxysmal response1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0002353HP:0025373Interictal EEG abnormality1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM1597408610045
HP:0002353HP:0011203EEG with abnormally slow frequencies1ALDH7A1 CL E G H5013006ORPHA1761877107323
HP:0002353HP:0011201EEG with changes in voltage1ALDH7A1 CL E G H5013006ORPHA1761877107323
HP:0002353HP:0011176EEG with constitutional variants1ALDH7A1 CL E G H5013006ORPHA1761877107323
HP:0002353HP:0011202EEG with diffuse acceleration1ALDH7A1 CL E G H5013006ORPHA1761877107323
HP:0002353HP:0010852EEG with photoparoxysmal response1ALDH7A1 CL E G H5013006ORPHA1761877107323
HP:0002353HP:0025373Interictal EEG abnormality1ALDH7A1 CL E G H5013006ORPHA1761877107323
HP:0002353HP:0011203EEG with abnormally slow frequencies1AP1S2 CL E G H890585329ORPHA1218560300629
HP:0002353HP:0011201EEG with changes in voltage1AP1S2 CL E G H890585329ORPHA1218560300629
HP:0002353HP:0011176EEG with constitutional variants1AP1S2 CL E G H890585329ORPHA1218560300629
HP:0002353HP:0011202EEG with diffuse acceleration1AP1S2 CL E G H890585329ORPHA1218560300629
HP:0002353HP:0010852EEG with photoparoxysmal response1AP1S2 CL E G H890585329ORPHA1218560300629
HP:0002353HP:0025373Interictal EEG abnormality1AP1S2 CL E G H890585329ORPHA1218560300629
HP:0002353HP:0011203EEG with abnormally slow frequencies1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0002353HP:0011201EEG with changes in voltage1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0002353HP:0011176EEG with constitutional variants1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0002353HP:0011202EEG with diffuse acceleration1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0002353HP:0010852EEG with photoparoxysmal response1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0002353HP:0025373Interictal EEG abnormality1AP3D1 CL E G H8943617050Hermansky-Pudlak syndrome 10617050C4310746OMIM1596568607246
HP:0002353HP:0011203EEG with abnormally slow frequencies1ARG1 CL E G H38390ORPHA1357663608313
HP:0002353HP:0011201EEG with changes in voltage1ARG1 CL E G H38390ORPHA1357663608313
HP:0002353HP:0011176EEG with constitutional variants1ARG1 CL E G H38390ORPHA1357663608313
HP:0002353HP:0011202EEG with diffuse acceleration1ARG1 CL E G H38390ORPHA1357663608313
HP:0002353HP:0010852EEG with photoparoxysmal response1ARG1 CL E G H38390ORPHA1357663608313
HP:0002353HP:0025373Interictal EEG abnormality1ARG1 CL E G H38390ORPHA1357663608313
HP:0002353HP:0011203EEG with abnormally slow frequencies1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM167918060300382
HP:0002353HP:0011201EEG with changes in voltage1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM167918060300382
HP:0002353HP:0011176EEG with constitutional variants1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM167918060300382
HP:0002353HP:0011202EEG with diffuse acceleration1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM167918060300382
HP:0002353HP:0010852EEG with photoparoxysmal response1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM167918060300382
HP:0002353HP:0025373Interictal EEG abnormality1ARX CL E G H170302309510Partington X-linked mental retardation syndrome309510C0796250OMIM167918060300382
HP:0002353HP:0011203EEG with abnormally slow frequencies1ASAH1 CL E G H4272590ORPHA1712735613468
HP:0002353HP:0011201EEG with changes in voltage1ASAH1 CL E G H4272590ORPHA1712735613468
HP:0002353HP:0011176EEG with constitutional variants1ASAH1 CL E G H4272590ORPHA1712735613468
HP:0002353HP:0011202EEG with diffuse acceleration1ASAH1 CL E G H4272590ORPHA1712735613468
HP:0002353HP:0010852EEG with photoparoxysmal response1ASAH1 CL E G H4272590ORPHA1712735613468
HP:0002353HP:0025373Interictal EEG abnormality1ASAH1 CL E G H4272590ORPHA1712735613468
HP:0002353HP:0011203EEG with abnormally slow frequencies1ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1554746608310
HP:0002353HP:0011201EEG with changes in voltage1ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1554746608310
HP:0002353HP:0011176EEG with constitutional variants1ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1554746608310
HP:0002353HP:0011202EEG with diffuse acceleration1ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1554746608310
HP:0002353HP:0010852EEG with photoparoxysmal response1ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1554746608310
HP:0002353HP:0025373Interictal EEG abnormality1ASL CL E G H43523Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1C2931135ORPHA1554746608310
HP:0002353HP:0011203EEG with abnormally slow frequencies1ASPA CL E G H443314911ORPHA1319756608034
HP:0002353HP:0011201EEG with changes in voltage1ASPA CL E G H443314911ORPHA1319756608034
HP:0002353HP:0011176EEG with constitutional variants1ASPA CL E G H443314911ORPHA1319756608034
HP:0002353HP:0011202EEG with diffuse acceleration1ASPA CL E G H443314911ORPHA1319756608034
HP:0002353HP:0010852EEG with photoparoxysmal response1ASPA CL E G H443314911ORPHA1319756608034
HP:0002353HP:0025373Interictal EEG abnormality1ASPA CL E G H443314911ORPHA1319756608034
HP:0002353HP:0011203EEG with abnormally slow frequencies1B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0002353HP:0011201EEG with changes in voltage1B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0002353HP:0011176EEG with constitutional variants1B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0002353HP:0011202EEG with diffuse acceleration1B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0002353HP:0010852EEG with photoparoxysmal response1B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0002353HP:0025373Interictal EEG abnormality1B3GALNT2 CL E G H148789588ORPHA146228596610194
HP:0002353HP:0011203EEG with abnormally slow frequencies1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0002353HP:0011201EEG with changes in voltage1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0002353HP:0011176EEG with constitutional variants1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0002353HP:0011202EEG with diffuse acceleration1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0002353HP:0010852EEG with photoparoxysmal response1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0002353HP:0025373Interictal EEG abnormality1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0002353HP:0011203EEG with abnormally slow frequencies1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0002353HP:0011201EEG with changes in voltage1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0002353HP:0011176EEG with constitutional variants1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0002353HP:0011202EEG with diffuse acceleration1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0002353HP:0010852EEG with photoparoxysmal response1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0002353HP:0025373Interictal EEG abnormality1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA19481097164757
HP:0002353HP:0011203EEG with abnormally slow frequencies1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0002353HP:0011201EEG with changes in voltage1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0002353HP:0011176EEG with constitutional variants1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0002353HP:0011202EEG with diffuse acceleration1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0002353HP:0010852EEG with photoparoxysmal response1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0002353HP:0025373Interictal EEG abnormality1CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM126891388601011
HP:0002353HP:0011203EEG with abnormally slow frequencies1CCDC47 CL E G H57003618268618268618268OMIM127248560
HP:0002353HP:0011201EEG with changes in voltage1CCDC47 CL E G H57003618268618268618268OMIM127248560
HP:0002353HP:0011176EEG with constitutional variants1CCDC47 CL E G H57003618268618268618268OMIM127248560
HP:0002353HP:0011202EEG with diffuse acceleration1CCDC47 CL E G H57003618268618268618268OMIM127248560
HP:0002353HP:0010852EEG with photoparoxysmal response1CCDC47 CL E G H57003618268618268618268OMIM127248560
HP:0002353HP:0025373Interictal EEG abnormality1CCDC47 CL E G H57003618268618268618268OMIM127248560
HP:0002353HP:0011203EEG with abnormally slow frequencies1CDKL5 CL E G H67923095ORPHA1152711411300203
HP:0002353HP:0011201EEG with changes in voltage1CDKL5 CL E G H67923095ORPHA1152711411300203
HP:0002353HP:0011176EEG with constitutional variants1CDKL5 CL E G H67923095ORPHA1152711411300203
HP:0002353HP:0011202EEG with diffuse acceleration1CDKL5 CL E G H67923095ORPHA1152711411300203
HP:0002353HP:0010852EEG with photoparoxysmal response1CDKL5 CL E G H67923095ORPHA1152711411300203
HP:0002353HP:0025373Interictal EEG abnormality1CDKL5 CL E G H67923095ORPHA1152711411300203
HP:0002353HP:0011203EEG with abnormally slow frequencies1CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM115261917602119
HP:0002353HP:0011201EEG with changes in voltage1CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM115261917602119
HP:0002353HP:0011176EEG with constitutional variants1CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM115261917602119
HP:0002353HP:0011202EEG with diffuse acceleration1CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM115261917602119
HP:0002353HP:0010852EEG with photoparoxysmal response1CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM115261917602119
HP:0002353HP:0025373Interictal EEG abnormality1CHD2 CL E G H1106615369Epileptic encephalopathy, childhood-onset615369C3809278OMIM115261917602119
HP:0002353HP:0011203EEG with abnormally slow frequencies1CLN8 CL E G H20551947ORPHA15412079607837
HP:0002353HP:0011201EEG with changes in voltage1CLN8 CL E G H20551947ORPHA15412079607837
HP:0002353HP:0011176EEG with constitutional variants1CLN8 CL E G H20551947ORPHA15412079607837
HP:0002353HP:0011202EEG with diffuse acceleration1CLN8 CL E G H20551947ORPHA15412079607837
HP:0002353HP:0010852EEG with photoparoxysmal response1CLN8 CL E G H20551947ORPHA15412079607837
HP:0002353HP:0025373Interictal EEG abnormality1CLN8 CL E G H20551947ORPHA15412079607837
HP:0002353HP:0011203EEG with abnormally slow frequencies1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0002353HP:0011201EEG with changes in voltage1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0002353HP:0011176EEG with constitutional variants1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0002353HP:0011202EEG with diffuse acceleration1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0002353HP:0010852EEG with photoparoxysmal response1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0002353HP:0025373Interictal EEG abnormality1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0002353HP:0011203EEG with abnormally slow frequencies1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0002353HP:0011201EEG with changes in voltage1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0002353HP:0011176EEG with constitutional variants1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0002353HP:0011202EEG with diffuse acceleration1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0002353HP:0010852EEG with photoparoxysmal response1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0002353HP:0025373Interictal EEG abnormality1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0002353HP:0011203EEG with abnormally slow frequencies1CNTN2 CL E G H690086814ORPHA15182172190197
HP:0002353HP:0011201EEG with changes in voltage1CNTN2 CL E G H690086814ORPHA15182172190197
HP:0002353HP:0011176EEG with constitutional variants1CNTN2 CL E G H690086814ORPHA15182172190197
HP:0002353HP:0011202EEG with diffuse acceleration1CNTN2 CL E G H690086814ORPHA15182172190197
HP:0002353HP:0010852EEG with photoparoxysmal response1CNTN2 CL E G H690086814ORPHA15182172190197
HP:0002353HP:0025373Interictal EEG abnormality1CNTN2 CL E G H690086814ORPHA15182172190197
HP:0002353HP:0011203EEG with abnormally slow frequencies1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002353HP:0011201EEG with changes in voltage1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002353HP:0011176EEG with constitutional variants1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002353HP:0011202EEG with diffuse acceleration1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002353HP:0010852EEG with photoparoxysmal response1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002353HP:0025373Interictal EEG abnormality1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002353HP:0011203EEG with abnormally slow frequencies1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0002353HP:0011201EEG with changes in voltage1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0002353HP:0011176EEG with constitutional variants1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0002353HP:0011202EEG with diffuse acceleration1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0002353HP:0010852EEG with photoparoxysmal response1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0002353HP:0025373Interictal EEG abnormality1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM112552348600140
HP:0002353HP:0011203EEG with abnormally slow frequencies1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1982510114025
HP:0002353HP:0011201EEG with changes in voltage1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1982510114025
HP:0002353HP:0011176EEG with constitutional variants1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1982510114025
HP:0002353HP:0011202EEG with diffuse acceleration1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1982510114025
HP:0002353HP:0010852EEG with photoparoxysmal response1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1982510114025
HP:0002353HP:0025373Interictal EEG abnormality1CTNNA2 CL E G H1496618174CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9618174OMIM1982510114025
HP:0002353HP:0011203EEG with abnormally slow frequencies1CTNND2 CL E G H150186814ORPHA13132516604275
HP:0002353HP:0011201EEG with changes in voltage1CTNND2 CL E G H150186814ORPHA13132516604275
HP:0002353HP:0011176EEG with constitutional variants1CTNND2 CL E G H150186814ORPHA13132516604275
HP:0002353HP:0011202EEG with diffuse acceleration1CTNND2 CL E G H150186814ORPHA13132516604275
HP:0002353HP:0010852EEG with photoparoxysmal response1CTNND2 CL E G H150186814ORPHA13132516604275
HP:0002353HP:0025373Interictal EEG abnormality1CTNND2 CL E G H150186814ORPHA13132516604275
HP:0002353HP:0011203EEG with abnormally slow frequencies1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11192718600811
HP:0002353HP:0011201EEG with changes in voltage1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11192718600811
HP:0002353HP:0011176EEG with constitutional variants1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11192718600811
HP:0002353HP:0011202EEG with diffuse acceleration1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11192718600811
HP:0002353HP:0010852EEG with photoparoxysmal response1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11192718600811
HP:0002353HP:0025373Interictal EEG abnormality1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11192718600811
HP:0002353HP:0011203EEG with abnormally slow frequencies1DEAF1 CL E G H10522819ORPHA145214677602635
HP:0002353HP:0011201EEG with changes in voltage1DEAF1 CL E G H10522819ORPHA145214677602635
HP:0002353HP:0011176EEG with constitutional variants1DEAF1 CL E G H10522819ORPHA145214677602635
HP:0002353HP:0011202EEG with diffuse acceleration1DEAF1 CL E G H10522819ORPHA145214677602635
HP:0002353HP:0010852EEG with photoparoxysmal response1DEAF1 CL E G H10522819ORPHA145214677602635
HP:0002353HP:0025373Interictal EEG abnormality1DEAF1 CL E G H10522819ORPHA145214677602635
HP:0002353HP:0011203EEG with abnormally slow frequencies1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0002353HP:0011201EEG with changes in voltage1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0002353HP:0011176EEG with constitutional variants1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0002353HP:0011202EEG with diffuse acceleration1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0002353HP:0010852EEG with photoparoxysmal response1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0002353HP:0025373Interictal EEG abnormality1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0002353HP:0011203EEG with abnormally slow frequencies1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM110619344617278
HP:0002353HP:0011201EEG with changes in voltage1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM110619344617278
HP:0002353HP:0011176EEG with constitutional variants1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM110619344617278
HP:0002353HP:0011202EEG with diffuse acceleration1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM110619344617278
HP:0002353HP:0010852EEG with photoparoxysmal response1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM110619344617278
HP:0002353HP:0025373Interictal EEG abnormality1DENND5A CL E G H23258617281Epileptic encephalopathy, early infantile, 49617281C4310635OMIM110619344617278
HP:0002353HP:0011203EEG with abnormally slow frequencies1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM131820603608172
HP:0002353HP:0011201EEG with changes in voltage1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM131820603608172
HP:0002353HP:0011176EEG with constitutional variants1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM131820603608172
HP:0002353HP:0011202EEG with diffuse acceleration1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM131820603608172
HP:0002353HP:0010852EEG with photoparoxysmal response1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM131820603608172
HP:0002353HP:0025373Interictal EEG abnormality1DHDDS CL E G H79947617836DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES617836CN769090OMIM131820603608172
HP:0002353HP:0011203EEG with abnormally slow frequencies1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0002353HP:0011201EEG with changes in voltage1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0002353HP:0011176EEG with constitutional variants1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0002353HP:0011202EEG with diffuse acceleration1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0002353HP:0010852EEG with photoparoxysmal response1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0002353HP:0025373Interictal EEG abnormality1DPM1 CL E G H8813608799Congenital disorder of glycosylation type 1E608799C1837396OMIM12033005603503
HP:0002353HP:0011203EEG with abnormally slow frequencies1EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0002353HP:0011201EEG with changes in voltage1EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0002353HP:0011176EEG with constitutional variants1EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0002353HP:0011202EEG with diffuse acceleration1EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0002353HP:0010852EEG with photoparoxysmal response1EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0002353HP:0025373Interictal EEG abnormality1EIF2S3 CL E G H196885282ORPHA11903267300161
HP:0002353HP:0011203EEG with abnormally slow frequencies1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0002353HP:0011201EEG with changes in voltage1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0002353HP:0011176EEG with constitutional variants1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0002353HP:0011202EEG with diffuse acceleration1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0002353HP:0010852EEG with photoparoxysmal response1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0002353HP:0025373Interictal EEG abnormality1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM18353373602700
HP:0002353HP:0011203EEG with abnormally slow frequencies1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0002353HP:0011201EEG with changes in voltage1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0002353HP:0011176EEG with constitutional variants1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0002353HP:0011202EEG with diffuse acceleration1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0002353HP:0010852EEG with photoparoxysmal response1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0002353HP:0025373Interictal EEG abnormality1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1121329331615068
HP:0002353HP:0011203EEG with abnormally slow frequencies1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0002353HP:0011201EEG with changes in voltage1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0002353HP:0011176EEG with constitutional variants1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0002353HP:0011202EEG with diffuse acceleration1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0002353HP:0010852EEG with photoparoxysmal response1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0002353HP:0025373Interictal EEG abnormality1ERCC1 CL E G H2067610758Cerebrooculofacioskeletal syndrome 4610758C1853100OMIM11133433126380
HP:0002353HP:0011203EEG with abnormally slow frequencies1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA111963434126340
HP:0002353HP:0011201EEG with changes in voltage1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA111963434126340
HP:0002353HP:0011176EEG with constitutional variants1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA111963434126340
HP:0002353HP:0011202EEG with diffuse acceleration1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA111963434126340
HP:0002353HP:0010852EEG with photoparoxysmal response1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA111963434126340
HP:0002353HP:0025373Interictal EEG abnormality1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA111963434126340
HP:0002353HP:0011203EEG with abnormally slow frequencies1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA13683435133510
HP:0002353HP:0011201EEG with changes in voltage1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA13683435133510
HP:0002353HP:0011176EEG with constitutional variants1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA13683435133510
HP:0002353HP:0011202EEG with diffuse acceleration1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA13683435133510
HP:0002353HP:0010852EEG with photoparoxysmal response1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA13683435133510
HP:0002353HP:0025373Interictal EEG abnormality1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA13683435133510
HP:0002353HP:0011203EEG with abnormally slow frequencies1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA16023436133520
HP:0002353HP:0011201EEG with changes in voltage1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA16023436133520
HP:0002353HP:0011176EEG with constitutional variants1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA16023436133520
HP:0002353HP:0011202EEG with diffuse acceleration1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA16023436133520
HP:0002353HP:0010852EEG with photoparoxysmal response1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA16023436133520
HP:0002353HP:0025373Interictal EEG abnormality1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA16023436133520
HP:0002353HP:0011203EEG with abnormally slow frequencies1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14253437133530
HP:0002353HP:0011201EEG with changes in voltage1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14253437133530
HP:0002353HP:0011176EEG with constitutional variants1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14253437133530
HP:0002353HP:0011202EEG with diffuse acceleration1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14253437133530
HP:0002353HP:0010852EEG with photoparoxysmal response1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14253437133530
HP:0002353HP:0025373Interictal EEG abnormality1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14253437133530
HP:0002353HP:0011203EEG with abnormally slow frequencies1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002353HP:0011201EEG with changes in voltage1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002353HP:0011176EEG with constitutional variants1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002353HP:0011202EEG with diffuse acceleration1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002353HP:0010852EEG with photoparoxysmal response1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002353HP:0025373Interictal EEG abnormality1FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0002353HP:0011203EEG with abnormally slow frequencies1FKRP CL E G H79147588ORPHA178717997606596
HP:0002353HP:0011201EEG with changes in voltage1FKRP CL E G H79147588ORPHA178717997606596
HP:0002353HP:0011176EEG with constitutional variants1FKRP CL E G H79147588ORPHA178717997606596
HP:0002353HP:0011202EEG with diffuse acceleration1FKRP CL E G H79147588ORPHA178717997606596
HP:0002353HP:0010852EEG with photoparoxysmal response1FKRP CL E G H79147588ORPHA178717997606596
HP:0002353HP:0025373Interictal EEG abnormality1FKRP CL E G H79147588ORPHA178717997606596
HP:0002353HP:0011203EEG with abnormally slow frequencies1FKTN CL E G H2218588ORPHA17833622607440
HP:0002353HP:0011201EEG with changes in voltage1FKTN CL E G H2218588ORPHA17833622607440
HP:0002353HP:0011176EEG with constitutional variants1FKTN CL E G H2218588ORPHA17833622607440
HP:0002353HP:0011202EEG with diffuse acceleration1FKTN CL E G H2218588ORPHA17833622607440
HP:0002353HP:0010852EEG with photoparoxysmal response1FKTN CL E G H2218588ORPHA17833622607440
HP:0002353HP:0025373Interictal EEG abnormality1FKTN CL E G H2218588ORPHA17833622607440
HP:0002353HP:0011203EEG with abnormally slow frequencies1FKTN CL E G H2218272VACTERL hydrocephalyORPHA17833622607440
HP:0002353HP:0011201EEG with changes in voltage1FKTN CL E G H2218272VACTERL hydrocephalyORPHA17833622607440
HP:0002353HP:0011176EEG with constitutional variants1FKTN CL E G H2218272VACTERL hydrocephalyORPHA17833622607440
HP:0002353HP:0011202EEG with diffuse acceleration1FKTN CL E G H2218272VACTERL hydrocephalyORPHA17833622607440
HP:0002353HP:0010852EEG with photoparoxysmal response1FKTN CL E G H2218272VACTERL hydrocephalyORPHA17833622607440
HP:0002353HP:0025373Interictal EEG abnormality1FKTN CL E G H2218272VACTERL hydrocephalyORPHA17833622607440
HP:0002353HP:0011203EEG with abnormally slow frequencies1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0002353HP:0011201EEG with changes in voltage1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0002353HP:0011176EEG with constitutional variants1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0002353HP:0011202EEG with diffuse acceleration1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0002353HP:0010852EEG with photoparoxysmal response1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0002353HP:0025373Interictal EEG abnormality1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1183327310607273
HP:0002353HP:0011203EEG with abnormally slow frequencies1FLII CL E G H2314819ORPHA11543750600362
HP:0002353HP:0011201EEG with changes in voltage1FLII CL E G H2314819ORPHA11543750600362
HP:0002353HP:0011176EEG with constitutional variants1FLII CL E G H2314819ORPHA11543750600362
HP:0002353HP:0011202EEG with diffuse acceleration1FLII CL E G H2314819ORPHA11543750600362
HP:0002353HP:0010852EEG with photoparoxysmal response1FLII CL E G H2314819ORPHA11543750600362
HP:0002353HP:0025373Interictal EEG abnormality1FLII CL E G H2314819ORPHA11543750600362
HP:0002353HP:0011203EEG with abnormally slow frequencies1FOXG1 CL E G H22903095ORPHA16143811164874
HP:0002353HP:0011201EEG with changes in voltage1FOXG1 CL E G H22903095ORPHA16143811164874
HP:0002353HP:0011176EEG with constitutional variants1FOXG1 CL E G H22903095ORPHA16143811164874
HP:0002353HP:0011202EEG with diffuse acceleration1FOXG1 CL E G H22903095ORPHA16143811164874
HP:0002353HP:0010852EEG with photoparoxysmal response1FOXG1 CL E G H22903095ORPHA16143811164874
HP:0002353HP:0025373Interictal EEG abnormality1FOXG1 CL E G H22903095ORPHA16143811164874
HP:0002353HP:0011203EEG with abnormally slow frequencies1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002353HP:0011201EEG with changes in voltage1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002353HP:0011176EEG with constitutional variants1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002353HP:0011202EEG with diffuse acceleration1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002353HP:0010852EEG with photoparoxysmal response1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002353HP:0025373Interictal EEG abnormality1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0002353HP:0011203EEG with abnormally slow frequencies1GABBR2 CL E G H95683095ORPHA16824507607340
HP:0002353HP:0011201EEG with changes in voltage1GABBR2 CL E G H95683095ORPHA16824507607340
HP:0002353HP:0011176EEG with constitutional variants1GABBR2 CL E G H95683095ORPHA16824507607340
HP:0002353HP:0011202EEG with diffuse acceleration1GABBR2 CL E G H95683095ORPHA16824507607340
HP:0002353HP:0010852EEG with photoparoxysmal response1GABBR2 CL E G H95683095ORPHA16824507607340
HP:0002353HP:0025373Interictal EEG abnormality1GABBR2 CL E G H95683095ORPHA16824507607340
HP:0002353HP:0011203EEG with abnormally slow frequencies1GABRA1 CL E G H255433069ORPHA15194075137160
HP:0002353HP:0011201EEG with changes in voltage1GABRA1 CL E G H255433069ORPHA15194075137160
HP:0002353HP:0011176EEG with constitutional variants1GABRA1 CL E G H255433069ORPHA15194075137160
HP:0002353HP:0011202EEG with diffuse acceleration1GABRA1 CL E G H255433069ORPHA15194075137160
HP:0002353HP:0010852EEG with photoparoxysmal response1GABRA1 CL E G H255433069ORPHA15194075137160
HP:0002353HP:0025373Interictal EEG abnormality1GABRA1 CL E G H255433069ORPHA15194075137160
HP:0002353HP:0011203EEG with abnormally slow frequencies1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0002353HP:0011201EEG with changes in voltage1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0002353HP:0011176EEG with constitutional variants1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0002353HP:0011202EEG with diffuse acceleration1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0002353HP:0010852EEG with photoparoxysmal response1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0002353HP:0025373Interictal EEG abnormality1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0002353HP:0011203EEG with abnormally slow frequencies1GABRD CL E G H25631606ORPHA13974084137163
HP:0002353HP:0011201EEG with changes in voltage1GABRD CL E G H25631606ORPHA13974084137163
HP:0002353HP:0011176EEG with constitutional variants1GABRD CL E G H25631606ORPHA13974084137163
HP:0002353HP:0011202EEG with diffuse acceleration1GABRD CL E G H25631606ORPHA13974084137163
HP:0002353HP:0010852EEG with photoparoxysmal response1GABRD CL E G H25631606ORPHA13974084137163
HP:0002353HP:0025373Interictal EEG abnormality1GABRD CL E G H25631606ORPHA13974084137163
HP:0002353HP:0011203EEG with abnormally slow frequencies1GABRG2 CL E G H256633069ORPHA15284087137164
HP:0002353HP:0011201EEG with changes in voltage1GABRG2 CL E G H256633069ORPHA15284087137164
HP:0002353HP:0011176EEG with constitutional variants1GABRG2 CL E G H256633069ORPHA15284087137164
HP:0002353HP:0011202EEG with diffuse acceleration1GABRG2 CL E G H256633069ORPHA15284087137164
HP:0002353HP:0010852EEG with photoparoxysmal response1GABRG2 CL E G H256633069ORPHA15284087137164
HP:0002353HP:0025373Interictal EEG abnormality1GABRG2 CL E G H256633069ORPHA15284087137164
HP:0002353HP:0011203EEG with abnormally slow frequencies1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0002353HP:0011201EEG with changes in voltage1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0002353HP:0011176EEG with constitutional variants1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0002353HP:0011202EEG with diffuse acceleration1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0002353HP:0010852EEG with photoparoxysmal response1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0002353HP:0025373Interictal EEG abnormality1GALC CL E G H2581245200Galactosylceramide beta-galactosidase deficiency245200C0023521OMIM19624115606890
HP:0002353HP:0011203EEG with abnormally slow frequencies1GMPPB CL E G H29925588ORPHA127322932615320
HP:0002353HP:0011201EEG with changes in voltage1GMPPB CL E G H29925588ORPHA127322932615320
HP:0002353HP:0011176EEG with constitutional variants1GMPPB CL E G H29925588ORPHA127322932615320
HP:0002353HP:0011202EEG with diffuse acceleration1GMPPB CL E G H29925588ORPHA127322932615320
HP:0002353HP:0010852EEG with photoparoxysmal response1GMPPB CL E G H29925588ORPHA127322932615320
HP:0002353HP:0025373Interictal EEG abnormality1GMPPB CL E G H29925588ORPHA127322932615320
HP:0002353HP:0011203EEG with abnormally slow frequencies1GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM13104396139380
HP:0002353HP:0011201EEG with changes in voltage1GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM13104396139380
HP:0002353HP:0011176EEG with constitutional variants1GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM13104396139380
HP:0002353HP:0011202EEG with diffuse acceleration1GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM13104396139380
HP:0002353HP:0010852EEG with photoparoxysmal response1GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM13104396139380
HP:0002353HP:0025373Interictal EEG abnormality1GNB1 CL E G H2782616973Mental retardation, autosomal dominant 42616973C4310774OMIM13104396139380
HP:0002353HP:0011203EEG with abnormally slow frequencies1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002353HP:0011201EEG with changes in voltage1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002353HP:0011176EEG with constitutional variants1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002353HP:0011202EEG with diffuse acceleration1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002353HP:0010852EEG with photoparoxysmal response1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002353HP:0025373Interictal EEG abnormality1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0002353HP:0011203EEG with abnormally slow frequencies1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0002353HP:0011201EEG with changes in voltage1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0002353HP:0011176EEG with constitutional variants1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0002353HP:0011202EEG with diffuse acceleration1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0002353HP:0010852EEG with photoparoxysmal response1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0002353HP:0025373Interictal EEG abnormality1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0002353HP:0011203EEG with abnormally slow frequencies1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0002353HP:0011201EEG with changes in voltage1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0002353HP:0011176EEG with constitutional variants1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0002353HP:0011202EEG with diffuse acceleration1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0002353HP:0010852EEG with photoparoxysmal response1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0002353HP:0025373Interictal EEG abnormality1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0002353HP:0011203EEG with abnormally slow frequencies1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM14174601138945
HP:0002353HP:0011201EEG with changes in voltage1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM14174601138945
HP:0002353HP:0011176EEG with constitutional variants1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM14174601138945
HP:0002353HP:0011202EEG with diffuse acceleration1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM14174601138945
HP:0002353HP:0010852EEG with photoparoxysmal response1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM14174601138945
HP:0002353HP:0025373Interictal EEG abnormality1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM14174601138945
HP:0002353HP:0011203EEG with abnormally slow frequencies1HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM123929853617245
HP:0002353HP:0011201EEG with changes in voltage1HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM123929853617245
HP:0002353HP:0011176EEG with constitutional variants1HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM123929853617245
HP:0002353HP:0011202EEG with diffuse acceleration1HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM123929853617245
HP:0002353HP:0010852EEG with photoparoxysmal response1HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM123929853617245
HP:0002353HP:0025373Interictal EEG abnormality1HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM123929853617245
HP:0002353HP:0011203EEG with abnormally slow frequencies1HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1734909603825
HP:0002353HP:0011201EEG with changes in voltage1HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1734909603825
HP:0002353HP:0011176EEG with constitutional variants1HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1734909603825
HP:0002353HP:0011202EEG with diffuse acceleration1HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1734909603825
HP:0002353HP:0010852EEG with photoparoxysmal response1HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1734909603825
HP:0002353HP:0025373Interictal EEG abnormality1HIC1 CL E G H3090531Acute myeloblastic leukemia type 6ORPHA1734909603825
HP:0002353HP:0011203EEG with abnormally slow frequencies1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM13275005613898
HP:0002353HP:0011201EEG with changes in voltage1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM13275005613898
HP:0002353HP:0011176EEG with constitutional variants1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM13275005613898
HP:0002353HP:0011202EEG with diffuse acceleration1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM13275005613898
HP:0002353HP:0010852EEG with photoparoxysmal response1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM13275005613898
HP:0002353HP:0025373Interictal EEG abnormality1HMGCL CL E G H3155246450Deficiency of hydroxymethylglutaryl-CoA lyase246450C0268601OMIM13275005613898
HP:0002353HP:0011203EEG with abnormally slow frequencies1HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM16925048602869
HP:0002353HP:0011201EEG with changes in voltage1HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM16925048602869
HP:0002353HP:0011176EEG with constitutional variants1HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM16925048602869
HP:0002353HP:0011202EEG with diffuse acceleration1HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM16925048602869
HP:0002353HP:0010852EEG with photoparoxysmal response1HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM16925048602869
HP:0002353HP:0025373Interictal EEG abnormality1HNRNPU CL E G H3192617391Epileptic encephalopathy, early infantile, 54617391C4479319OMIM16925048602869
HP:0002353HP:0011203EEG with abnormally slow frequencies1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA15475173190020
HP:0002353HP:0011201EEG with changes in voltage1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA15475173190020
HP:0002353HP:0011176EEG with constitutional variants1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA15475173190020
HP:0002353HP:0011202EEG with diffuse acceleration1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA15475173190020
HP:0002353HP:0010852EEG with photoparoxysmal response1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA15475173190020
HP:0002353HP:0025373Interictal EEG abnormality1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA15475173190020
HP:0002353HP:0011203EEG with abnormally slow frequencies1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17354851613004
HP:0002353HP:0011201EEG with changes in voltage1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17354851613004
HP:0002353HP:0011176EEG with constitutional variants1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17354851613004
HP:0002353HP:0011202EEG with diffuse acceleration1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17354851613004
HP:0002353HP:0010852EEG with photoparoxysmal response1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17354851613004
HP:0002353HP:0025373Interictal EEG abnormality1HTT CL E G H306439946,XX testicular disorder of sex developmentC2936420ORPHA17354851613004
HP:0002353HP:0011203EEG with abnormally slow frequencies1IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0002353HP:0011201EEG with changes in voltage1IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0002353HP:0011176EEG with constitutional variants1IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0002353HP:0011202EEG with diffuse acceleration1IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0002353HP:0010852EEG with photoparoxysmal response1IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0002353HP:0025373Interictal EEG abnormality1IQSEC2 CL E G H23096819ORPHA195529059300522
HP:0002353HP:0011203EEG with abnormally slow frequencies1ITGB6 CL E G H36942850ORPHA1956161147558
HP:0002353HP:0011201EEG with changes in voltage1ITGB6 CL E G H36942850ORPHA1956161147558
HP:0002353HP:0011176EEG with constitutional variants1ITGB6 CL E G H36942850ORPHA1956161147558
HP:0002353HP:0011202EEG with diffuse acceleration1ITGB6 CL E G H36942850ORPHA1956161147558
HP:0002353HP:0010852EEG with photoparoxysmal response1ITGB6 CL E G H36942850ORPHA1956161147558
HP:0002353HP:0025373Interictal EEG abnormality1ITGB6 CL E G H36942850ORPHA1956161147558
HP:0002353HP:0011203EEG with abnormally slow frequencies1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002353HP:0011201EEG with changes in voltage1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002353HP:0011176EEG with constitutional variants1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002353HP:0011202EEG with diffuse acceleration1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002353HP:0010852EEG with photoparoxysmal response1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002353HP:0025373Interictal EEG abnormality1KCNAB2 CL E G H85141606ORPHA1916229601142
HP:0002353HP:0011203EEG with abnormally slow frequencies1KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0002353HP:0011201EEG with changes in voltage1KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0002353HP:0011176EEG with constitutional variants1KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0002353HP:0011202EEG with diffuse acceleration1KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0002353HP:0010852EEG with photoparoxysmal response1KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0002353HP:0025373Interictal EEG abnormality1KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0002353HP:0011203EEG with abnormally slow frequencies1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0002353HP:0011201EEG with changes in voltage1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0002353HP:0011176EEG with constitutional variants1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0002353HP:0011202EEG with diffuse acceleration1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0002353HP:0010852EEG with photoparoxysmal response1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0002353HP:0025373Interictal EEG abnormality1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA14406407190070
HP:0002353HP:0011203EEG with abnormally slow frequencies1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14406407190070
HP:0002353HP:0011201EEG with changes in voltage1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14406407190070
HP:0002353HP:0011176EEG with constitutional variants1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14406407190070
HP:0002353HP:0011202EEG with diffuse acceleration1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14406407190070
HP:0002353HP:0010852EEG with photoparoxysmal response1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14406407190070
HP:0002353HP:0025373Interictal EEG abnormality1KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA14406407190070
HP:0002353HP:0011203EEG with abnormally slow frequencies1LAGE3 CL E G H82702065ORPHA123326058300060
HP:0002353HP:0011201EEG with changes in voltage1LAGE3 CL E G H82702065ORPHA123326058300060
HP:0002353HP:0011176EEG with constitutional variants1LAGE3 CL E G H82702065ORPHA123326058300060
HP:0002353HP:0011202EEG with diffuse acceleration1LAGE3 CL E G H82702065ORPHA123326058300060
HP:0002353HP:0010852EEG with photoparoxysmal response1LAGE3 CL E G H82702065ORPHA123326058300060
HP:0002353HP:0025373Interictal EEG abnormality1LAGE3 CL E G H82702065ORPHA123326058300060
HP:0002353HP:0011203EEG with abnormally slow frequencies1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM110716494604349
HP:0002353HP:0011201EEG with changes in voltage1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM110716494604349
HP:0002353HP:0011176EEG with constitutional variants1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM110716494604349
HP:0002353HP:0011202EEG with diffuse acceleration1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM110716494604349
HP:0002353HP:0010852EEG with photoparoxysmal response1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM110716494604349
HP:0002353HP:0025373Interictal EEG abnormality1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM110716494604349
HP:0002353HP:0011203EEG with abnormally slow frequencies1LARGE1 CL E G H9215588ORPHA16586511603590
HP:0002353HP:0011201EEG with changes in voltage1LARGE1 CL E G H9215588ORPHA16586511603590
HP:0002353HP:0011176EEG with constitutional variants1LARGE1 CL E G H9215588ORPHA16586511603590
HP:0002353HP:0011202EEG with diffuse acceleration1LARGE1 CL E G H9215588ORPHA16586511603590
HP:0002353HP:0010852EEG with photoparoxysmal response1LARGE1 CL E G H9215588ORPHA16586511603590
HP:0002353HP:0025373Interictal EEG abnormality1LARGE1 CL E G H9215588ORPHA16586511603590
HP:0002353HP:0011203EEG with abnormally slow frequencies1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM126717095604544
HP:0002353HP:0011201EEG with changes in voltage1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM126717095604544
HP:0002353HP:0011176EEG with constitutional variants1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM126717095604544
HP:0002353HP:0011202EEG with diffuse acceleration1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM126717095604544
HP:0002353HP:0010852EEG with photoparoxysmal response1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM126717095604544
HP:0002353HP:0025373Interictal EEG abnormality1LARS2 CL E G H23395617021Hydrops, lactic acidosis, and sideroblastic anemia617021C4310761OMIM126717095604544
HP:0002353HP:0011203EEG with abnormally slow frequencies1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM16137216617659
HP:0002353HP:0011201EEG with changes in voltage1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM16137216617659
HP:0002353HP:0011176EEG with constitutional variants1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM16137216617659
HP:0002353HP:0011202EEG with diffuse acceleration1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM16137216617659
HP:0002353HP:0010852EEG with photoparoxysmal response1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM16137216617659
HP:0002353HP:0025373Interictal EEG abnormality1LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM16137216617659
HP:0002353HP:0011203EEG with abnormally slow frequencies1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0002353HP:0011201EEG with changes in voltage1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0002353HP:0011176EEG with constitutional variants1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0002353HP:0011202EEG with diffuse acceleration1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0002353HP:0010852EEG with photoparoxysmal response1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0002353HP:0025373Interictal EEG abnormality1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13986840176872
HP:0002353HP:0011203EEG with abnormally slow frequencies1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0002353HP:0011201EEG with changes in voltage1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0002353HP:0011176EEG with constitutional variants1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0002353HP:0011202EEG with diffuse acceleration1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0002353HP:0010852EEG with photoparoxysmal response1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0002353HP:0025373Interictal EEG abnormality1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15996842601263
HP:0002353HP:0011203EEG with abnormally slow frequencies1MCOLN1 CL E G H57192578Akesson syndromeORPHA153813356605248
HP:0002353HP:0011201EEG with changes in voltage1MCOLN1 CL E G H57192578Akesson syndromeORPHA153813356605248
HP:0002353HP:0011176EEG with constitutional variants1MCOLN1 CL E G H57192578Akesson syndromeORPHA153813356605248
HP:0002353HP:0011202EEG with diffuse acceleration1MCOLN1 CL E G H57192578Akesson syndromeORPHA153813356605248
HP:0002353HP:0010852EEG with photoparoxysmal response1MCOLN1 CL E G H57192578Akesson syndromeORPHA153813356605248
HP:0002353HP:0025373Interictal EEG abnormality1MCOLN1 CL E G H57192578Akesson syndromeORPHA153813356605248
HP:0002353HP:0011203EEG with abnormally slow frequencies1MECP2 CL E G H4204778ORPHA117786990300005
HP:0002353HP:0011201EEG with changes in voltage1MECP2 CL E G H4204778<