{"orpha":100012,"name":"Lissencephaly with cerebellar hypoplasia type B","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-100012/","orphanet_url":"https://www.orpha.net/en/disease/detail/100012","names":{"fr":{"name":"Lissencéphalie-hypoplasie cérébelleuse type B","definition":"Forme rare de lissencéphalie avec hypoplasie cérébelleuse caractérisée par une microcéphalie subtile, une hypotonie et un retard de développement neurologique et cognitif. La malformation hippocampique est un élément caractéristique de la maladie mis en évidence par imagerie."},"de":{"name":"Lissenzephalie mit zerebellärer Hypoplasie Typ B","definition":"Eine Form der Lissenzephalie mit Kleinhirnhypoplasie, die durch subtile Mikrozephalie, Hypotonie und neurologische und kognitive Entwicklungsverzögerung gekennzeichnet ist. Die Hippocampus-Fehlbildung ist ein charakteristisches Bildgebungsmerkmal dieser Störung."},"es":{"name":"Lisencefalia con hipoplasia cerebelosa tipo B","definition":"Es una forma de lisencefalia con hipoplasia cerebelosa caracterizada por microcefalia leve, hipotonía y retraso del desarrollo neurocognitivo. La malformación del hipocampo es un rasgo característico de este trastorno en los estudios de imagen."},"it":{"name":"Lissencefalia con ipoplasia cerebellare tipo B","definition":"Si tratta di una forma di lissencefalia con ipoplasia cerebellare, caratterizzata da microcefalia lieve, ipotonia e ritardo dello sviluppo neurologico e cognitivo. Le immagini diagnostiche evidenziano una caratteristica malformazione dell'ippocampo."},"nl":{"name":"Lissencefalie met cerebellaire hypoplasie type B","definition":"Een vorm van lissencefalie met cerebellaire hypoplasie, gekarakteriseerd door subtiele microcefalie, hypotonie en neurologische en cognitieve ontwikkelingsachterstand. Malformatie van hippocampus is een typisch kenmerk van deze aandoening bij beeldvorming."},"pt":{"name":"Lisencefalia com hipoplasia cerebelosa tipo B"},"pl":{"name":"Lizencefalia z hipoplazją móżdżku typu B"},"cs":{"name":"Lisencefalie s pontocerebelární hypoplázií, typ B"},"uk":{"name":"Лісенцефалія з гіпоплазією мозочка, тип В","definition":"A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder."},"zh":{"name":"无脑回畸形伴小脑发育不全B型","definition":"无脑畸形伴小脑发育不全B型是一种伴小脑发育不良的无脑畸形，其特征是轻微的小头畸形、肌张力减退以及神经和认知发育迟缓。海马畸形是本病的典型影像特征。"},"tr":{"name":"Serebellar hipoplazi tip B -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":"1056934902"},{"source":"MONDO","code":"0015035","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274993","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","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"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}