{"orpha":100016,"name":"Lissencephaly with cerebellar hypoplasia type F","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100016/","orphanet_url":"https://www.orpha.net/en/disease/detail/100016","names":{"fr":{"name":"Lissencéphalie-hypoplasie cérébelleuse type F","definition":"Forme grave de lissencéphalie avec hypoplasie cérébelleuse, caractérisée par une microcéphalie d'au moins -3 écarts-types et un cortex épaissi associé à l'absence complète de corps calleux."},"de":{"name":"Lissenzephalie mit zerebellärer Hypoplasie Typ F","definition":"Eine schwere Form der Lissenzephalie mit Kleinhirnhypoplasie, gekennzeichnet durch eine Mikrozephalie von mindestens -3 SD und einen dicken Kortex in Verbindung mit dem vollständigen Fehlen des Corpus callosum."},"es":{"name":"Lisencefalia con hipoplasia cerebelosa tipo F","definition":"Es una forma grave de lisencefalia con hipoplasia cerebelosa, caracterizada por microcefalia de al menos -3 DE y un engrosamiento cortical asociado a una ausencia completa del cuerpo calloso."},"it":{"name":"Lissencefalia con ipoplasia cerebellare tipo F","definition":"Si tratta di una forma grave di lissencefalia con ipoplasia cerebellare, caratterizzata da microcefalia di almeno - 3 DS, ispessimento della corteccia e agenesia completa del corpo calloso."},"nl":{"name":"Lissencefalie met cerebellaire hypoplasie type F","definition":"Een ernstige vorm van lissencefalie met cerebellaire hypoplasie, gekarakteriseerd door microcefalie van minstens - 3 SD en een dikke cortex geassocieerd met volledige afwezigheid van corpus callosum."},"pt":{"name":"Lisencefalia com hipoplasia cerebelosa tipo F"},"pl":{"name":"Lizencefalia z hipoplazją móżdżku typu F"},"cs":{"name":"Lisencefalie s pontocerebelární hypoplázií, typ F"},"uk":{"name":"Лісенцефалія з гіпоплазією мозочка, тип F","definition":"A severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum."},"zh":{"name":"无脑回畸形伴小脑发育不全F型","definition":"无脑畸形伴小脑发育不良F型是一种伴严重小脑发育不良的无脑畸形，伴有小脑发育不全，特征是小头畸形至少-3SD，皮质增厚并完全缺乏胼胝体。"},"tr":{"name":"Serebellar hipoplazi F tipi -ilişkili lizensefali"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"468664200"},{"source":"MONDO","code":"0015039","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274989","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":86823,"name":"Lissencephaly with cerebellar hypoplasia","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}