{"orpha":442835,"name":"Non-specific early-onset epileptic encephalopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Non-specific EOEE","Undetermined EOEE","Undetermined early-onset epileptic encephalopathy"],"definition":"A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-442835/","orphanet_url":"https://www.orpha.net/en/disease/detail/442835","names":{"fr":{"name":"Encéphalopathie épileptique à début précoce non spécifique","synonyms":["Encéphalopathie épileptique à début précoce indéterminée"],"definition":"Syndrome épileptique du nouveau-né rare caractérisé par l'apparition précoce de crises de type et de sévérité variables, potentiellement associées à un large spectre clinique et symptomatologique, notamment un retard ou un arrêt de développement psychomoteur, une déficience intellectuelle, une pauvreté, voire une absence totale de langage, des anomalies comportementales, une hypotonie, des troubles du mouvement, une spasticité, une microcéphalie et une dysmorphie faciale. Les résultats de l'imagerie cérébrale sont également variables et peuvent inclure une atrophie cérébrale ou des anomalies de la substance blanche."},"de":{"name":"Enzephalopathie, epileptische, frühinfantile unbestimmte Form","synonyms":["Unbestimmte EOEE"],"definition":"Ein seltenes Epilepsiesyndrom des Kindesalters, das durch ein frühes Auftreten von Anfällen unterschiedlicher Art und Schwere gekennzeichnet ist. Zu dem Spektrum der möglichen klinischen Anzeichen und Symptome gehören u. a. eine verzögerte oder fehlende psychomotorische Entwicklung, Intelligenzminderung, schlechte oder fehlende Sprachentwicklung, Verhaltensauffälligkeiten, Hypotonie, Bewegungsstörungen, Spastizität, Mikrozephalie und Gesichtsdysmorphien. Die Ergebnisse der Bildgebung des Gehirns sind variabel und können eine zerebrale Atrophie oder Anomalien der weißen Substanz umfassen."},"es":{"name":"Encefalopatía epiléptica inespecífica de inicio precoz","synonyms":["EOEE indeterminada","EOEE inespecífica","Encefalopatía epiléptica indeterminada de inicio precoz"],"definition":"Es un síndrome de epilepsia infantil poco frecuente caracterizado por la aparición temprana de crisis de tipo y gravedad variables, potencialmente asociado a un espectro de signos y síntomas clínicos que incluyen retraso o ausencia del desarrollo psicomotor, discapacidad intelectual, desarrollo deficiente o ausencia del habla, trastornos de la conducta, hipotonía, trastornos del movimiento, espasticidad, microcefalia y rasgos faciales dismórficos, entre otros. Los hallazgos en las imágenes cerebrales también son variables y pueden incluir atrofia cerebral o anomalías de la sustancia blanca."},"it":{"name":"Encefalopatia epilettica indeterminata ad esordio precoce","synonyms":["EOEE generica","EOEE non specificata","Encefalopatia epilettica generica ad esordio precoce"],"definition":"Si tratta di un'epilessia infantile rara, caratterizzata da crisi epilettiche ad esordio precoce, di tipo e gravità variabili, potenzialmente associate ad un quadro clinico che comprende il ritardo o l'assenza dello sviluppo psicomotorio, la disabilità intellettiva, lo scarso sviluppo o l'assenza del linguaggio, le anomalie del comportamento, l'ipotonia, i disturbi del movimento, la spasticità, ma microcefalia e i dismorfismi facciali. Anche le anomalie evidenziate dalle neuroimmagini sono variabili, e comprendono l'atrofia cerebrale e le anomalie della sostanza bianca."},"nl":{"name":"Aspecifieke epileptische encefalopathie met vroege aanvang","synonyms":["Aspecifieke EOEE","Onbepaalde EOEE","Onbepaalde vroeg optredende epileptische encefalopathie"],"definition":"Een zeldzaam infantiel epilepsiesyndroom, gekarakteriseerd door vroege aanvang van insulten van variabel type en met variabele gradaties van ernst, potentieel geassocieerd met een spectrum van klinische verschijnselen en symptomen, waaronder achterstand van of gebrek aan psychomotorische ontwikkeling, intellectuele beperking, ondermaatse of afwezige spraakontwikkeling, gedragsafwijkingen, hypotonie, bewegingsstoornissen, spasticiteit, microcefalie, en dysmorfe gelaatskenmerken. Bevindingen van beeldvorming van hersenen zijn ook variabel en omvatten mogelijk cerebrale atrofie of afwijkingen van witte stof."},"pt":{"name":"Encefalopatia epilética de início precoce inespecífica","synonyms":["Encefalopatia epilética de causa indeterminada e início precoce"]},"pl":{"name":"Niezdeterminowana encefalopatia padaczkowa o wczesnym początku","synonyms":["Niezdeterminowana EOEE"]},"cs":{"name":"Neurčená epileptická encefalopatie s časným nástupem","synonyms":["Neurčená EOEE"]},"uk":{"name":"Неспецифічна рання епілептична енцефалопатія","synonyms":["Неспецифічні ЕОЕЕ","Невизначена епілептична енцефалопатія з раннім початком","Невизначений ЕОЕЕ"],"definition":"A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities."},"zh":{"name":"未确定的早发性癫痫性脑病","synonyms":["未确定EOEE"],"definition":"一种罕见的婴儿癫痫综合征，其特征是早期发作的和严重程度各异的，可能与一系列临床体征和症状有关，包括精神运动发育延迟或缺乏，智力障碍，语言发育不良或缺乏，行为异常，肌张力低下，运动疾病，痉挛，小头畸形和面部畸形等。脑部影像学发现也各不相同，可能包括脑萎缩或白质异常。"},"tr":{"name":"Belirsiz, erken başlangıçlı epileptik ensefalopati","synonyms":["Belirlenmemiş EOEE"]}},"xrefs":[{"source":"OMIM","code":"301058","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614558","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615476","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615833","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615871","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615905","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616056","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616339","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616346","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616366","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616409","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617020","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617105","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617106","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617132","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617153","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617162","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617166","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617665","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617711","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617771","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617829","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617830","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617831","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617836","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617854","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617938","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618008","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618012","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618067","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618201","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618396","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618437","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618468","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618497","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618557","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618559","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618910","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618916","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618959","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619124","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619317","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619561","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619605","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619606","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619777","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619814","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619881","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619913","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619922","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619970","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620028","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620033","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620115","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620145","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620149","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620352","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620504","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620537","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621608","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018614","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680057","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":369894,"name":"OBSOLETE: Early infantile epileptic encephalopathy without suppression burst","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":98749,"name":"Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect","classifications":[156]},{"orpha":98745,"name":"Neurological channelopathy of the central nervous system due to a genetic calcium channel defect","classifications":[156]},{"orpha":98746,"name":"Neurological channelopathy of the central nervous system due to a genetic potassium channel defect","classifications":[156]},{"orpha":98744,"name":"Neurological channelopathy of the central nervous system due to a genetic sodium channel defect","classifications":[156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SYNGAP1","name":"synaptic Ras GTPase activating protein 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"23708187[PMID]","hgnc":"11497","ensembl":"ENSG00000197283","omim":"603384","loci":["6p21.32"]},{"symbol":"FGF12","name":"fibroblast growth factor 12","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"27164707[PMID]","hgnc":"3668","ensembl":"ENSG00000114279","omim":"601513","loci":["3q28-q29"]},{"symbol":"GRIN2D","name":"glutamate ionotropic receptor NMDA type subunit 2D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"27616483[PMID]","hgnc":"4588","ensembl":"ENSG00000105464","omim":"602717","loci":["19q13.33"]},{"symbol":"HCN1","name":"hyperpolarization activated cyclic nucleotide gated potassium channel 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"24747641[PMID]_25678871[PMID]","hgnc":"4845","ensembl":"ENSG00000164588","omim":"602780","loci":["5p12"]},{"symbol":"KCNA2","name":"potassium voltage-gated channel subfamily A member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25751627[PMID]","hgnc":"6220","ensembl":"ENSG00000177301","omim":"176262","loci":["1p13.3"]},{"symbol":"SCN8A","name":"sodium voltage-gated channel alpha subunit 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"22365152[PMID]_23708187[PMID]","hgnc":"10596","ensembl":"ENSG00000196876","omim":"600702","loci":["12q13.13"]},{"symbol":"AARS1","name":"alanyl-tRNA synthetase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25817015[PMID]","hgnc":"20","ensembl":"ENSG00000090861","omim":"601065","loci":["16q22.1"]},{"symbol":"CACNA1B","name":"calcium voltage-gated channel subunit alpha1 B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30982612[PMID]","hgnc":"1389","ensembl":"ENSG00000148408","omim":"601012","loci":["9q34.3"]},{"symbol":"DALRD3","name":"DALR anticodon binding domain containing 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"32427860[PMID]","hgnc":"25536","ensembl":"ENSG00000178149","omim":"618904","loci":["3p21.31"]},{"symbol":"KCNA2","name":"potassium voltage-gated channel subfamily A member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25751627[PMID]","hgnc":"6220","ensembl":"ENSG00000177301","omim":"176262","loci":["1p13.3"]},{"symbol":"KCNC2","name":"potassium voltage-gated channel subfamily C member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"35314505[PMID]","hgnc":"6234","ensembl":"ENSG00000166006","omim":"176256","loci":["12q21.1"]},{"symbol":"NECAP1","name":"NECAP endocytosis associated 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24399846[PMID]","hgnc":"24539","ensembl":"ENSG00000089818","omim":"611623","loci":["12p13.31"]},{"symbol":"TRAK1","name":"trafficking kinesin protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28364549[PMID]","hgnc":"29947","ensembl":"ENSG00000182606","omim":"608112","loci":["3p22.1"]},{"symbol":"UBA5","name":"ubiquitin like modifier activating enzyme 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27545674[PMID]_27545681[PMID]","hgnc":"23230","ensembl":"ENSG00000081307","omim":"610552","loci":["3q22.1"]},{"symbol":"UFSP2","name":"UFM1 specific peptidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"33473208[PMID]","hgnc":"25640","ensembl":"ENSG00000109775","omim":"611482","loci":["4q35.1"]},{"symbol":"ACTL6B","name":"actin like 6B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31031012[PMID]","hgnc":"160","ensembl":"ENSG00000077080","omim":"612458","loci":["7q22.1"]},{"symbol":"AP3B2","name":"adaptor related protein complex 3 subunit beta 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27889060[PMID]","hgnc":"567","ensembl":"ENSG00000103723","omim":"602166","loci":["15q25.2"]},{"symbol":"ATP1A2","name":"ATPase Na+/K+ transporting subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33880529[PMID]","hgnc":"800","ensembl":"ENSG00000018625","omim":"182340","loci":["1q23.2"]},{"symbol":"ATP1A3","name":"ATPase Na+/K+ transporting subunit alpha 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33880529[PMID]","hgnc":"801","ensembl":"ENSG00000105409","omim":"182350","loci":["19q13.2"]},{"symbol":"ATP6V1A","name":"ATPase H+ transporting V1 subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29668857[PMID]","hgnc":"851","ensembl":"ENSG00000114573","omim":"607027","loci":["3q13.31"]},{"symbol":"CACNA1A","name":"calcium voltage-gated channel subunit alpha1 A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27476654[PMID]","hgnc":"1388","ensembl":"ENSG00000141837","omim":"601011","loci":["19p13.13"]},{"symbol":"CACNA2D1","name":"calcium voltage-gated channel auxiliary subunit alpha2delta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35293990[PMID]","hgnc":"1399","ensembl":"ENSG00000153956","omim":"114204","loci":["7q21.11"]},{"symbol":"CDK19","name":"cyclin dependent kinase 19","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32330417[PMID]","hgnc":"19338","ensembl":"ENSG00000155111","omim":"614720","loci":["6q21"]},{"symbol":"CELF2","name":"CUGBP Elav-like family member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33131106[PMID]","hgnc":"2550","ensembl":"ENSG00000048740","omim":"602538","loci":["10p14"]},{"symbol":"CLTC","name":"clathrin heavy chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100083[PMID]","hgnc":"2092","ensembl":"ENSG00000141367","omim":"118955","loci":["17q23.1"]},{"symbol":"CNKSR2","name":"connector enhancer of kinase suppressor of Ras 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25223753[PMID]","hgnc":"19701","ensembl":"ENSG00000149970","omim":"300724","loci":["Xp22.12"]},{"symbol":"CYFIP2","name":"cytoplasmic FMR1 interacting protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29534297[PMID]","hgnc":"13760","ensembl":"ENSG00000055163","omim":"606323","loci":["5q33.3"]},{"symbol":"DEPDC5","name":"DEP domain containing 5, GATOR1 subcomplex subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36067010[PMID]","hgnc":"18423","ensembl":"ENSG00000100150","omim":"614191","loci":["22q12.2-q12.3"]},{"symbol":"DHDDS","name":"dehydrodolichyl diphosphate synthase subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100083[PMID]","hgnc":"20603","ensembl":"ENSG00000117682","omim":"608172","loci":["1p36.11"]},{"symbol":"DNM1","name":"dynamin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25262651[PMID]_25533962[PMID]","hgnc":"2972","ensembl":"ENSG00000106976","omim":"602377","loci":["9q34.11"]},{"symbol":"EEF1A2","name":"eukaryotic translation elongation factor 1 alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23647072[PMID]","hgnc":"3192","ensembl":"ENSG00000101210","omim":"602959","loci":["20q13.33"]},{"symbol":"FBXO28","name":"F-box protein 28","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33280099[PMID]","hgnc":"29046","ensembl":"ENSG00000143756","omim":"609100","loci":["1q42.11"]},{"symbol":"FOXG1","name":"forkhead box G1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31454984[PMID]","hgnc":"3811","ensembl":"ENSG00000176165","omim":"164874","loci":["14q12"]},{"symbol":"FZR1","name":"fizzy and cell division cycle 20 related 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34788397[PMID]","hgnc":"24824","ensembl":"ENSG00000105325","omim":"603619","loci":["19p13.3"]},{"symbol":"GABBR2","name":"gamma-aminobutyric acid type B receptor subunit 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25262651[PMID]","hgnc":"4507","ensembl":"ENSG00000136928","omim":"607340","loci":["9q22.33"]},{"symbol":"GABRA2","name":"gamma-aminobutyric acid type A receptor subunit alpha2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31032849[PMID]","hgnc":"4076","ensembl":"ENSG00000151834","omim":"137140","loci":["4p12"]},{"symbol":"GABRA5","name":"gamma-aminobutyric acid type A receptor subunit alpha5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31056671[PMID]","hgnc":"4079","ensembl":"ENSG00000186297","omim":"137142","loci":["15q12"]},{"symbol":"GABRB2","name":"gamma-aminobutyric acid type A receptor subunit beta2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100083[PMID]","hgnc":"4082","ensembl":"ENSG00000145864","omim":"600232","loci":["5q34"]},{"symbol":"GABRG2","name":"gamma-aminobutyric acid type A receptor subunit gamma2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27864268[PMID]","hgnc":"4087","ensembl":"ENSG00000113327","omim":"137164","loci":["5q34"]},{"symbol":"KCNB1","name":"potassium voltage-gated channel subfamily B member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25164438[PMID]","hgnc":"6231","ensembl":"ENSG00000158445","omim":"600397","loci":["20q13.13"]},{"symbol":"KCNH5","name":"potassium voltage-gated channel subfamily H member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36307226[PMID]","hgnc":"6254","ensembl":"ENSG00000140015","omim":"605716","loci":["14q23.2"]},{"symbol":"MDGA2","name":"MAM domain containing glycosylphosphatidylinositol anchor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"41570816[PMID]","hgnc":"19835","ensembl":null,"omim":null,"loci":["14q21.3"]},{"symbol":"NTRK2","name":"neurotrophic receptor tyrosine kinase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100083[PMID]","hgnc":"8032","ensembl":"ENSG00000148053","omim":"600456","loci":["9q21.33"]},{"symbol":"NUS1","name":"NUS1 dehydrodolichyl diphosphate synthase subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100083[PMID]","hgnc":"21042","ensembl":"ENSG00000153989","omim":"610463","loci":["6q22.1"]},{"symbol":"PACS2","name":"phosphofurin acidic cluster sorting protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29656858[PMID]","hgnc":"23794","ensembl":"ENSG00000179364","omim":"610423","loci":["14q32.33"]},{"symbol":"PARS2","name":"prolyl-tRNA synthetase 2, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29915213[PMID]","hgnc":"30563","ensembl":"ENSG00000162396","omim":"612036","loci":["1p32.3"]},{"symbol":"PPP3CA","name":"protein phosphatase 3 catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28942967[PMID]","hgnc":"9314","ensembl":"ENSG00000138814","omim":"114105","loci":["4q24"]},{"symbol":"SCN1A","name":"sodium voltage-gated channel alpha subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24776920[PMID]","hgnc":"10585","ensembl":"ENSG00000144285","omim":"182389","loci":["2q24.3"]},{"symbol":"SCN3A","name":"sodium voltage-gated channel alpha subunit 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29466837[PMID]","hgnc":"10590","ensembl":"ENSG00000153253","omim":"182391","loci":["2q24.3"]},{"symbol":"SLC13A5","name":"solute carrier family 13 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24995870[PMID]","hgnc":"23089","ensembl":"ENSG00000141485","omim":"608305","loci":["17p13.1"]},{"symbol":"SLC1A2","name":"solute carrier family 1 member 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27476654[PMID]_28777935[PMID]","hgnc":"10940","ensembl":"ENSG00000110436","omim":"600300","loci":["11p13"]},{"symbol":"SLC38A3","name":"solute carrier family 38 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34605855[PMID]","hgnc":"18044","ensembl":"ENSG00000188338","omim":"604437","loci":["3p21.31"]},{"symbol":"SYNJ1","name":"synaptojanin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27435091[PMID]","hgnc":"11503","ensembl":"ENSG00000159082","omim":"604297","loci":["21q22.11"]},{"symbol":"SZT2","name":"SZT2 subunit of KICSTOR complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23932106[PMID]","hgnc":"29040","ensembl":"ENSG00000198198","omim":"615463","loci":["1p34.2"]},{"symbol":"YWHAG","name":"tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28777935[PMID]","hgnc":"12852","ensembl":"ENSG00000170027","omim":"605356","loci":["7q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-01-30","source":"28777935[PMID]_27605359[PMID]_27435091[PMID]_27164707[PMID]_25223753[PMID]_23991336[PMID]_27545674[PMID]_27545681[PMID]_26235277[PMID]_26173968[PMID]_27866705[PMID]_23932106[PMID]_25817015[PMID]_24995870[PMID]_25411445[PMID]_23647072[PMID]_25751627[PMID]_25817015[PMID]_25262651[PMID]_23932106[PMID]_28364549[PMID]_25164438[PMID]_24747641[PMID]_24399846[PMID]_22365152[PMID]","terms":[{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011443","label":"Abnormality of coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010844","label":"EEG with multifocal slow activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001273","label":"Abnormal corpus callosum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100660","label":"Dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002421","label":"Poor head control","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002317","label":"Unsteady gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012547","label":"Abnormal involuntary eye movements","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002509","label":"Limb hypertonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very rare (<4-1%)","criteria":null}]}}