{"orpha":100013,"name":"Lissencephaly with cerebellar hypoplasia type C","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100013/","orphanet_url":"https://www.orpha.net/en/disease/detail/100013","names":{"fr":{"name":"Lissencéphalie-hypoplasie cérébelleuse type C","definition":"Forme sévère et rare de lissencéphalie avec hypoplasie cérébelleuse caractérisée par une microcéphalie sévère, une fente palatine, et une hypoplasie sévère du cervelet et du tronc cérébral entraînant le décès."},"de":{"name":"Lissenzephalie mit zerebellärer Hypoplasie Typ C","definition":"Eine schwere Form der Lissenzephalie mit Kleinhirnhypoplasie, die durch schwere Mikrozephalie, Gaumenspalte und schwere Kleinhirn- und Hirnstammhypoplasie gekennzeichnet ist und zum Neugeborenentod führt."},"es":{"name":"Lisencefalia con hipoplasia cerebelosa tipo C","definition":"Es una forma grave de lisencefalia caracterizada por microcefalia grave, paladar hendido y grave hipoplasia cerebelosa y del tronco encefálico que resulta en muerte neonatal."},"it":{"name":"Lissencefalia con ipoplasia cerebellare tipo C","definition":"Si tratta di una forma grave di lissencefalia con ipoplasia cerebellare, caratterizzata da microcefalia grave, palatoschisi ed ipoplasia cerebellare e del tronco encefalico, che esitano nella morte nel periodo neonatale."},"nl":{"name":"Lissencefalie met cerebellaire hypoplasie type C","definition":"Een ernstige vorm van lissencefalie met cerebellaire hypoplasie, gekarakteriseerd door ernstige microcefalie, gespleten verhemelte, en ernstige hypoplasie van cerebellum en hersenstam, met neonataal overlijden tot gevolg."},"pt":{"name":"Lisencefalia com hipoplasia cerebelosa tipo C"},"pl":{"name":"Lizencefalia z hipoplazją móżdżku typu C"},"cs":{"name":"Lisencefalie s pontocerebelární hypoplázií, typ C"},"uk":{"name":"Лісенцефалія з гіпоплазією мозочка, тип С","definition":"A severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death."},"zh":{"name":"无脑回畸形伴小脑发育不全C型","definition":"无脑畸形伴小脑发育不良C型是一种伴严重小脑发育不全的无脑畸形，小脑发育不全，以严重的小头畸形、腭裂和严重的小脑和脑干发育不全为特征，导致新生儿死亡"},"tr":{"name":"Serebellar hipoplazi tip C -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":"1837040262"},{"source":"MONDO","code":"0015036","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274992","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":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"10594886[PMID]_11748497[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11748497[PMID]"}],"phenotypes":null}