{"orpha":727803,"name":"Isolated global cerebellar hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated generalized cerebellar hypoplasia"],"definition":"A rare isolated cerebellar malformation characterized by a normal shape but reduced volume of the cerebellar vermis and hemispheres with no other neurological anomalies or extracerebral congenital malformations. The majority of patients present with impaired ambulation, global developmental delay, with or without intellectual disability. Other signs might include hypotonia, truncal, appendicular and gait ataxia, as well as oculomotor abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-727803/","orphanet_url":"https://www.orpha.net/en/disease/detail/727803","names":{"fr":{"name":"Hypoplasie globale isolée du cervelet","synonyms":["Hypoplasie généralisée isolée du cervelet"]},"de":{"name":"Isolierte globale zerebelläre Hypoplasie","synonyms":["Isolierte generalisierte Kleinhirnhypoplasie"]},"es":{"name":"Hipoplasia cerebelosa global aislada","synonyms":["Hipoplasia cerebelosa generalizada aislada"]},"it":{"name":"Ipoplasia cerebellare globale isolata","synonyms":["Ipoplasia cerebellare generalizzata isolata"]},"nl":{"name":"Geïsoleerde algehele cerebellaire hypoplasie","synonyms":["Geïsoleerde gegeneraliseerde cerebellaire hypoplasie"]},"pt":{"name":"Isolated global cerebellar hypoplasia"},"pl":{"name":"Isolated global cerebellar hypoplasia","synonyms":["Isolated generalized cerebellar hypoplasia"]},"cs":{"name":"Isolated global cerebellar hypoplasia","synonyms":["Isolated generalized cerebellar hypoplasia"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269224,"name":"Global cerebellar malformation","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}