{"orpha":269221,"name":"Isolated bilateral hemispheric cerebellar hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-269221/","orphanet_url":"https://www.orpha.net/en/disease/detail/269221","names":{"fr":{"name":"Hypoplasie isolée bilatérale des hémisphères cérébelleux","definition":"Malformation cérébelleuse rare caractérisée par une hypoplasie des deux hémisphères cérébelleux sans autre anomalie cérébelleuse/cérébrale ou autre caractéristique clinique associée. Les patients atteints présentent une hypotonie légère et un retard moteur, des troubles cognitifs légers, un retard de langage, des déficits de mémoire visuospatiale et verbale, une dysdiadochocinésie, des tremblements intentionnels, ainsi qu'une éventuelle une hypersensibilité émotionnelle et une légère dépression."},"de":{"name":"Zerebelläre hemisphärische Hypoplasie, isoliert bilaterale"},"es":{"name":"Hipoplasia hemisférica cerebelosa bilateral aislada","definition":"Es una malformación cerebelosa poco frecuente caracterizada por hipoplasia de ambos hemisferios cerebelosos sin ninguna otra anomalía cerebelosa/cerebral ni otra característica clínica asociada. Los pacientes afectados comienzan con leve hipotonía con retraso motor, leve deterioro cognitivo, retraso del lenguaje, déficit de memoria verbal y visuoespacial, disdiadococinesia, temblor intencional y posible presencia de labilidad emocional y depresión leve."},"it":{"name":"Ipoplasia cerebellare emisferica bilaterale isolata","definition":"L'ipoplasia cerebellare emisferica bilaterale isolata è una malformazione rara del cervelletto, caratterizzata dall'ipoplasia di entrambi gli emisferi cerebellari, in assenza di altre anomalie cerebellari/cerebrali o di altri segni clinici. I pazienti presentano lieve ipotonia associata a ritardo motorio, lieve deficit cognitivo, ritardo del linguaggio, deficit mnemonici visuo-spaziali e verbali, disdiadococinesia, tremore intenzionale e, talvolta, fragilità emotiva e lieve depressione."},"nl":{"name":"Geïsoleerde bilaterale hypoplasie van cerebellaire hemisfeer","synonyms":["Geïsoleerde bilaterale hypoplasie van kleinehersenhelft"],"definition":"Geïsoleerde bilaterale hemisferische cerebellaire hypoplasie is een zeldzame cerebellaire malformatie die gekarakteriseerd wordt door hypoplasie van beide cerebellaire hemisferen zonder andere cerebellaire/cerebrale anomalie of ander geassocieerd klinisch kenmerk. Getroffen patiënten vertonen milde hypotonie met motorische achterstand, milde cognitieve beperking, taalachterstand, visuospatiële en verbale geheugenstoornissen, dysdiadochokinese, intentietremor, en mogelijke aanwezigheid van emotionele kwetsbaarheid en milde depressie."},"pt":{"name":"Hipoplasia dos hemisférios cerebelosos bilateral isolada"},"pl":{"name":"Izolowana obustronna hipoplazja półkul móżdżku","definition":"*Izolowana obustronna hipoplazja półkul móżdżku jest rzadką wadą móżdżku, która charakteryzuje się niedorozwojem obu półkul móżdżku bez innych nieprawidłowości móżdżku/mózgu lub powiązanych cech klinicznych. U pacjentów obserwuje się łagodną hipotonię z opóźnieniem ruchowym, łagodne zaburzenia poznawcze, opóźnienie mowy, deficyty pamięci wzrokowo-przestrzennej i werbalnej, dysdiadochokinezą (utrudnione wykonywanie szybkich ruchów naprzemiennych dłoni), drżenie zamiarowe, z możliwą obecnością nadwrażliwości emocjonalnej i łagodnej depresji."},"cs":{"name":"Izolovaná bilaterální hemisferická mozečková hypoplázie"},"uk":{"name":"Ізольована двобічна півкульна гіпоплазія мозочка","definition":"Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression."},"zh":{"name":"孤立性双侧小脑半球发育不全","definition":"孤立的双侧半球小脑发育不全是一种罕见的小脑畸形，其特征是两个小脑半球发育不全，没有其他小脑/大脑异常或其他相关的临床特征。受影响的患者表现为轻度肌张力低下，伴有运动延迟、轻度认知障碍、语言延迟、视觉空间和语言记忆缺陷、运动障碍、意向性震颤，以及可能存在情绪脆弱和轻度抑郁。"},"tr":{"name":"İzole bilateral hemisferik serebellar hipoplazi"}},"xrefs":[{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA06.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1366151963"},{"source":"MONDO","code":"0017113","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749791","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98516,"name":"Malformation of the cerebellar hemispheres","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}