{"orpha":94084,"name":"Cerebro-oculo-facial-lymphatic syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Fryns-Aftimos syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Baraitser-Winter cerebrofrontofacial syndrome","url":"https://raremap.alftech.space/d/ORPHA-94084/","orphanet_url":"https://www.orpha.net/en/disease/detail/94084","names":{"fr":{"name":"Syndrome cérébro-oculo-facio-lymphatique","synonyms":["Syndrome de Fryns-Aftimos"]},"de":{"name":"Zerebro-okulo-fazial-lymphatisches-Syndrom","synonyms":["Fryns-Aftimos-Syndrom"]},"es":{"name":"Síndrome cerebro-óculo-facio-linfático","synonyms":["Síndrome de Fryns-Aftimos"]},"it":{"name":"Pachigiria - epilessia - ritardo mentale - dismorfismi","synonyms":["Sindrome di Fryns-Aftimos"]},"nl":{"name":"Cerebro-oculo-faciaal-lymfatisch syndroom","synonyms":["Syndroom van Fryns-Aftimos"]},"pt":{"name":"Síndrome cerebro-oculo-facial-linfático","synonyms":["Síndrome Fryns-Aftimos"]},"pl":{"name":"Pachygyria - padaczka - niepełnosprawność intelektualna- dysmorfia","synonyms":["Zespół Frynsa i Aftimosa","Zespół mózgowo-oczno-twarzowo-limfatyczny"]},"cs":{"name":"Syndrom zahrnující pachygyrii, epilepsii, mentální retardaci a dysmorfismus","synonyms":["Cerebrookulofaciální-lymfatický syndrom","Frynsův-Aftimosův syndrom","Fryns-Aftimosův syndrom"]},"uk":{"name":"Цереброокулофаціальнолімфатичний синдром","synonyms":["Синдром Фрінса-Афтімоса"]},"zh":{"name":"脑-眼-面-淋巴综合征","synonyms":["Fryns-Aftimos综合征"]},"tr":{"name":"Serebro-okülo-fasiyal lenfatik sendrom","synonyms":["Fryns-Aftimos sendromu"]}},"xrefs":[{"source":"UMLS","code":"C1853623","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":2995,"name":"Baraitser-Winter cerebrofrontofacial syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}