{"orpha":100015,"name":"Lissencephaly with cerebellar hypoplasia type E","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100015/","orphanet_url":"https://www.orpha.net/en/disease/detail/100015","names":{"fr":{"name":"Lissencéphalie-hypoplasie cérébelleuse type E","definition":"Lissencéphalie rare, d'origine génétique, avec sous-type d'hypoplasie cérébelleuse caractérisée par la présence d'une lissencéphalie avec transition soudaine (près de la frontière entre les lobes frontal et pariétal) d'une agyrie du lobe frontal à une simplification gyrale postérieure, associée à une hypoplasie cérébelleuse qui touche principalement le vermis du cervelet."},"de":{"name":"Lissenzephalie mit zerebellärer Hypoplasie Typ E","definition":"Ein seltener Subtyp der Lissenzephalie mit Kleinhirnhypoplasie, der durch das Vorhandensein einer Lissenzephalie mit einem abrupten Übergang nahe der Grenze zwischen frontalem und parietalem Kortex von einer frontalen Agyrie zu einer hinteren gyralen Vereinfachung gekennzeichnet ist, verbunden mit einer Kleinhirnhypoplasie, die vorwiegend den mittleren Vermis betrifft."},"es":{"name":"Lisencefalia con hipoplasia cerebelosa tipo E","definition":"Es un subtipo de lisencefalia con hipoplasia cerebelosa, de origen genético y poco frecuente, caracterizada por la presencia de lisencefalia con una transición abrupta, localizada cerca del límite entre la corteza frontal y parietal, que varía desde la agiria frontal hasta la simplificación del patrón giral posterior, asociada a hipoplasia cerebelosa con afectación predominante del vermis en la línea media."},"it":{"name":"Lissencefalia con ipoplasia cerebellare tipo E","definition":"È una lissencefalia genetica rara associata ad ipoplasia cerebellare, caratterizzata da lissencefalia con brusca transizione dall'agiria frontale alla semplificazione delle circonvoluzioni posteriori, in prossimità del limite tra la corteccia frontale e quella parietale. Si associa ad ipoplasia cerebellare, che interessa prevalentemente il verme mediano."},"nl":{"name":"Lissencefalie met cerebellaire hypoplasie type E","definition":"Een zeldzaam, genetisch subtype van lissencefalie met cerebellaire hypoplasie dat gekarakteriseerd wordt door de aanwezigheid van lissencefalie met een abrupte transitie, nabij de grens tussen de frontale en pariëtale cortex, gaande van frontale agyrie tot posterieur vereenvoudigde hersenwindingen, geassocieerd met cerebellaire hypoplasie die voornamelijke de vermis op de middellijn treft."},"pt":{"name":"Lisencefalia com hipoplasia cerebelosa tipo E"},"pl":{"name":"Lizencefalia z hipoplazją móżdżku typu E"},"cs":{"name":"Lisencefalie s pontocerebelární hypoplázií, typ E"},"uk":{"name":"Лісенцефалія з гіпоплазією мозочка, тип Е","definition":"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by the presence of lissencephaly with an abrupt transition, near the boundary between the frontal and parietal cortex, from frontal agyria to posterior gyral simplification, associated with cerebellar hypoplasia which predominantly affects the midline vermis."},"zh":{"name":"无脑回畸形伴小脑发育不全E型","definition":"无脑畸形伴小脑发育不良E型是一种罕见的遗传性无脑小脑发育不良亚型，其特征是在额叶和顶叶皮质交界处附近出现突然过渡的无脑畸形，从额叶无脑回到简单后脑回，并伴有小脑发育不良，主要影响中线小脑蚓体。"},"tr":{"name":"Serebellar hipoplazi tip E -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":"252327835"},{"source":"MONDO","code":"0015038","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191422","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}