{"orpha":100011,"name":"Lissencephaly with cerebellar hypoplasia type A","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100011/","orphanet_url":"https://www.orpha.net/en/disease/detail/100011","names":{"fr":{"name":"Lissencéphalie-hypoplasie cérébelleuse type A","definition":"Lissencéphalie rare, d'origine génétique, avec sous-type d'hypoplasie cérébelleuse, caractérisée par une lissencéphalie classique avec épaississement de la matière grise corticale (soit sans gradient visible, soit avec gradient à prédominance antérieure), associée à une hypoplasie cérébelleuse variable, à prédominance vermienne."},"de":{"name":"Lissenzephalie mit zerebellärer Hypoplasie Typ A","definition":"Ein seltener Subtyp der Lissenzephalie mit Kleinhirnhypoplasie, der durch eine klassische Lissenzephalie mit einer Verdickung der kortikalen grauen Substanz (entweder ohne erkennbaren Gradienten, mit einem vorwiegend posterioren Gradienten oder mit einem vorwiegend anterioren Gradienten) in Verbindung mit einer variablen Kleinhirnhypoplasie, vorwiegend in der Mittellinie, gekennzeichnet ist."},"es":{"name":"Lisencefalia con hipoplasia cerebelosa tipo A","definition":"Es un subtipo de hipoplasia cerebelosa con lisencefalia, de origen genético y poco frecuente, caracterizado por lisencefalia clásica con engrosamiento de la sustancia gris cortical (sin gradiente discernible o bien con un gradiente de predominio posterior o anterior), asociado a hipoplasia cerebelosa variable, predominantemente de línea media."},"it":{"name":"Lissencefalia con ipoplasia cerebellare tipo A","definition":"È una lissencefalia genetica rara associata ad ipoplasia cerebellare, caratterizzata da lissencefalia classica con ispessimento della sostanza grigia corticale (in assenza di gradiente apprezzabile, con gradiente prevalentemente posteriore, oppure prevalentemente anteriore) associata ad ipoplasia cerebellare di grado variabile che interessa per lo più la linea mediana."},"nl":{"name":"Lissencefalie met cerebellaire hypoplasie type A","definition":"Een zeldzaam, genetisch subtype van lissencefalie met cerebellaire hypoplasie dat gekarakteriseerd wordt door klassieke lissencefalie met verdikte corticale grijze stof (ofwel zonder waarneembare gradiënt, ofwel met een voornamelijk posterieure gradiënt, ofwel met een voornamelijk anterieure gradiënt), geassocieerd met variabele, voornamelijk op de middellijn gesitueerde, cerebellaire hypoplasie."},"pt":{"name":"Lisencefalia com hipoplasia cerebelosa tipo A"},"pl":{"name":"Lizencefalia z hipoplazją móżdżku typu A"},"cs":{"name":"Lisencefalie s pontocerebelární hypoplázií, typ A"},"uk":{"name":"Лісенцефалія з гіпоплазією мозочка, тип А","definition":"A rare, genetic, lissencephaly with cerebellar hypoplasia subtype characterized by classical lissencephaly with thickened cortical gray matter (with either no discernable gradient, a predominantly posterior gradient, or a predominantly anterior gradient) associated with variable, predominantly midline, cerebellar hypoplasia."},"zh":{"name":"无脑回畸形伴小脑发育不全A型","definition":"无脑畸形伴小脑发育不全A型是一种罕见的遗传性小脑发育不良亚型，以典型的小脑发育不全为特征，皮质灰质增厚(无明显梯度，或主要为后部增厚，或主要为前部增厚)，伴有可变的、以中线为主的小脑发育不良。"},"tr":{"name":"Serebellar hipoplazi tip A -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":"853428618"},{"source":"MONDO","code":"0015034","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191423","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}