{"orpha":411986,"name":"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome"],"definition":"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411986/","orphanet_url":"https://www.orpha.net/en/disease/detail/411986","names":{"fr":{"name":"Syndrome d'encéphalopathie épileptique infantile précoce-cécité corticale-déficience intellectuelle-dysmorphie faciale","synonyms":["Syndrome d'épilepsie-cécité corticale-déficience intellectuelle-dysmorphie faciale"],"definition":"Déficience intellectuelle syndromique rare caractérisée par une cécité corticale, différents types de crises épileptiques, une déficience intellectuelle avec langage absent ou limité et une dysmorphie faciale. L'imagerie cérébrale révèle généralement une légère hypoplasie du pont, une hypoplasie du corps calleux et une atrophie de la région occipitale."},"de":{"name":"Frühinfantile epileptische Enzephalopathie-kortikale Blindheit-Intelligenzminderung-Gesichtsdysmorphie-Syndrom","synonyms":["Epilepsie-kortikale Blindheit-Intelligenzminderung-Gesichtsdysmorphie-Syndrom"]},"es":{"name":"Síndrome de encefalopatía epiléptica-ceguera cortical-discapacidad intelectual-dismorfia facial de inicio precoz","synonyms":["Síndrome de epilepsia-ceguera cortical-discapacidad intelecutal-dismorfia facial"],"definition":"El síndrome de encefalopatía epiléptica - ceguera cortical - discapacidad intelectual - dismorfia facial de inicio temprano, es un síndrome de discapacidad intelectual poco frecuente, caracterizado por ceguera cortical, diferentes tipos de crisis, discapacidad intelectual con habla limitada o ausente, y rasgos faciales dismórficos. Las imágenes cerebrales suelen mostrar ligera hipoplasia pontina, hipoplasia del cuerpo calloso y atrofia en la región occipital."},"it":{"name":"Sindrome da encefalopatia epilettica ad esordio precoce, cecità corticale, disabilità intellettiva e dismorfismi facciali","synonyms":["Sindrome epilessia-cecità corticale-disabilità cognitiva-dismorfismi facciali"],"definition":"La sindrome che associa l'encefalopatia epilettica ad esordio precoce, la cecità corticale, la disabilità intellettiva e i dismorfismi facciali è una malattia rara da disabilità intellettiva, caratterizzata da cecità corticale, diversi tipi di crisi epilettiche, disabilità intellettiva con linguaggio assente o deficitario, e dismorfismi facciali. Le neuroimmagini evidenziano lieve ipoplasia del ponte, ipoplasia del corpo calloso e atrofia nella regione occipitale."},"nl":{"name":"Vroeg optredende epileptische encefalopathie - corticale blindheid - intellectuele achterstand - faciale dysmorfie-syndroom","synonyms":["Epilepsie - corticale blindheid - intellectuele achterstand - faciale dysmorfie-syndroom"],"definition":"Vroeg beginnende epileptische encefalopathie - corticale blindheid - intellectuele achterstand - faciale dysmorfie-syndroom is een zeldzame, syndromale intellectuele invaliditeit, en wordt gekarakteriseerd door corticale blindheid, verschillende soorten insulten, intellectuele achterstand met beperkte of afwezige spraak, en dysmorfe gelaatskenmerken. Beeldvorming van de hersenen toont doorgaans milde pontiene hypoplasie, hypoplasie van het corpus callosum en atrofie in het occipitale gebied."},"pt":{"name":"Síndrome de encefalopatia epilética de início precoce-cegueira cortical-perturbação do desenvolvimento intelectual-dismorfia facial"},"pl":{"name":"Zespół encefalopatia padaczkowa o wczesnym początku-ślepota korowa-niepełnosprawność intelektualna-dysmorfia twarzy","synonyms":["Zespół padaczka ślepota korowa-niepełnosprawność intelektualna-dysmorfia twarzy"],"definition":"*Zespół encefalopatia padaczkowa o wczesnym początku-ślepota korowa-niepełnosprawność intelektualna-dysmorfia twarzy jest rzadkim zespołem z niepełnosprawnością intelektualną, który charakteryzuje się ślepotą korową, napadami padaczkowymi o różnym typie, niepełnosprawnością intelektualną z brakiem mowy lub jej ograniczonym rozwojem oraz dysmorficznymi rysami twarzy. W badaniach obrazowych mózgu zazwyczaj widoczna jest łagodna hipoplazja mostu, niedorozwój ciała modzelowatego i zaniki kory mózgowej w okolicy potylicznej."},"cs":{"name":"Syndrom zahrnující epileptickou encefalopatii s časným nástupem, kortikální slepotu, mentální retardaci a faciální dysmorfismus","synonyms":["Syndrom zahrnující epilepsii, kortikální slepotu, mentální retardaci a faciální dysmorfismus"]},"uk":{"name":"Синдром ранньої епілептичної енцефалопатії-кортікальної сліпоти-інтелектуальної недостатності- дизморфізму обличчя","synonyms":["Синдром епілепсії-кортикальної сліпоти-інтелектуальної недостатності- дисморфізму обличчя"],"definition":"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region."},"zh":{"name":"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome","synonyms":["癫痫-皮质盲-智力障碍-面部畸形综合征"],"definition":"早发性癫痫性脑病-皮质失明-智力障碍-面部畸形综合症是一种罕见的综合征性智力障碍综合症，其特征是皮质失明，不同类型的癫痫发作，智力障碍，言语受限或缺失以及面部畸形。脑部成像通常显示轻度桥脑发育不全，胼胝体发育不全和枕骨区域萎缩。"},"tr":{"name":"Erken başlangıçlı epileptik ensefalopati-kortikal körlük-zihinsel yetersizlik-yüz dismorfizm sendromu","synonyms":["Epilepsi-kortikal körlük-zihinsel yetersizlik-fasiyal dismorfizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"615859","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014371","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750952","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":522508,"name":"Rare genetic ophthalmic disorder with cortical involvement","classifications":[156]},{"orpha":519343,"name":"Rare ophthalmic disorder with cortical involvement","classifications":[189]}],"children":[],"genes":[{"symbol":"DOCK7","name":"dedicator of cytokinesis 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24814191[PMID]","hgnc":"19190","ensembl":"ENSG00000116641","omim":"615730","loci":["1p31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"24814191[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24814191[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-04","source":"24814191[PMID]","terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010818","label":"Generalized tonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012105","label":"Occipital cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000629","label":"Periorbital fullness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000817","label":"Reduced eye contact","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040159","label":"Abnormal spaced incisors","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010819","label":"Atonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002121","label":"Generalized non-motor (absence) seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009904","label":"Prominent ear helix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null}]}}