{"orpha":100014,"name":"Lissencephaly with cerebellar hypoplasia type D","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100014/","orphanet_url":"https://www.orpha.net/en/disease/detail/100014","names":{"fr":{"name":"Lissencéphalie-hypoplasie cérébelleuse type D","definition":"Forme rare de lissencéphalie avec hypoplasie cérébelleuse caractérisée par une microcéphalie prononcée (≤ -3 SD), une déficience intellectuelle, une diplégie spastique et une hypoplasie cérébelleuse modérée à sévère affectant à la fois le vermis et les hémisphères."},"de":{"name":"Lissenzephalie mit zerebellärer Hypoplasie Typ D","definition":"Eine Form der Lissenzephalie mit Kleinhirnhypoplasie, gekennzeichnet durch ausgeprägte Mikrozephalie (≤ -3 SD), Intelligenzminderung, spastische Diplegie und mäßige bis schwere Kleinhirnhypoplasie, die sowohl Vermis als auch Hemisphären betrifft."},"es":{"name":"Lisencefalia con hipoplasia cerebelosa tipo D","definition":"Es una forma de lisencefalia con hipoplasia cerebelosa caracterizada por una marcada microcefalia (≤ -3 SD), discapacidad intelectual, diplejía espástica e hipoplasia cerebelosa de moderada a grave afectando tanto al vermis como a los hemisferios."},"it":{"name":"Lissencefalia con ipoplasia cerebellare tipo D","definition":"Si tratta di una forma di lissencefalia con ipoplasia cerebellare, caratterizzata da microcefalia marcata (≤ -3 SD), disabilità intellettiva, diplegia spastica ed ipoplasia cerebellare moderata-grave che interessa sia il verme che gli emisferi."},"nl":{"name":"Lissencefalie met cerebellaire hypoplasie type D","definition":"Een vorm van lissencefalie met cerebellaire hypoplasie, gekarakteriseerd door uitgesproken microcefalie (≤ -3 SD), intellectuele achterstand, spastische diplegie en matige tot ernstige cerebellaire hypoplasie met betrokkenheid van zowel vermis als hemisferen."},"pt":{"name":"Lisencefalia com hipoplasia cerebelosa tipo D"},"pl":{"name":"Lizencefalia z hipoplazją móżdżku typu D"},"cs":{"name":"Lisencefalie s pontocerebelární hypoplázií, typ D"},"uk":{"name":"Лісенцефалія з гіпоплазією мозочка, тип D","definition":"A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (≤ -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres."},"zh":{"name":"无脑回畸形伴小脑发育不全D型","definition":"无脑畸形伴小脑发育不良D型是一种伴小脑发育不良的无脑畸形，其特征是明显的小头畸形(至少▒3 SD)、智力残疾、痉挛性双瘫以及累及大脑半球和大脑半球的中度到重度小脑发育不良"},"tr":{"name":"Serebellar hipoplazi tip D -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":"1633599738"},{"source":"MONDO","code":"0015037","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274991","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}