{"orpha":168486,"name":"OBSOLETE: Congenital neuronal ceroid lipofuscinosis","type":"Disease","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Congenital NCL"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Neuronal ceroid lipofuscinosis","url":"https://raremap.alftech.space/d/ORPHA-168486/","orphanet_url":"https://www.orpha.net/en/disease/detail/168486","names":{"fr":{"name":"OBSOLETE : Céroïde-lipofuscinose neuronale congénitale","synonyms":["OBSOLETE : CLN congénitale","OBSOLETE : NCL congénitale"]},"de":{"name":"OBSOLET: Ceroid-Lipofuszinose, neuronale, kongenitale","synonyms":["OBSOLET: CLN10","OBSOLET: Ceroid-Lipofuszinose, neuronale (CLN10)","OBSOLET: NCL, kongenitale"]},"es":{"name":"OBSOLETO: Lipofuscinosis ceroide neuronal congénita","synonyms":["OBSOLETO: Ceroidolipofuscinosis neuronal congénita","OBSOLETO: LCN congénita","OBSOLETO: NCL congénita"]},"it":{"name":"OBSOLETO: Ceroido lipofuscinosi neuronale congenita","synonyms":["OBSOLETO: NCL congenita"]},"nl":{"name":"OBSOLEET: Congenitale neuronale ceroïdlipofuscinose","synonyms":["OBSOLEET: Congenitale NCL"]},"pt":{"name":"OBSOLETO: Lipofuscinose ceróide neuronal congénita"},"pl":{"name":"NIEAKTUALNE: Wrodzona ceroidolipofuscynoza neuronalna","synonyms":["NIEAKTUALNE: Wrodzona NCL"]},"cs":{"name":"NEAKTUÁLNÍ: Vrozená forma neuronální ceroidlipofuscinózy","synonyms":["NEAKTUÁLNÍ: Vrozená NCL"]},"uk":{"name":"ЗАСТАРІЛО: Вроджений нейрональний цероїдний ліпофусциноз","synonyms":["ЗАСТАРІЛО: Вроджена НКЛ"]},"zh":{"name":"先天性神经元蜡样脂褐质贮积病","synonyms":["先天性NCL"],"definition":"先天性神经元蜡样脂褐质贮积病（CNCL）是一种出生时起病的重度神经元蜡样脂褐质贮积病（NCL；见该术语），其主要临床表现为原发性小头畸形、新生儿癫痫和婴儿早期夭折。"},"tr":{"name":"Doğumsal nöronal seroid lipofuksinoz","synonyms":["Doğumsal NCL"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":216,"name":"Neuronal ceroid lipofuscinosis"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}