Isolated global cerebellar hypoplasia

定义 英文原文（暂无中文）

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.

别名

Isolated generalized cerebellar hypoplasia

基本事实

遗传方式

未知

发病年龄

婴儿期、新生儿期

外部标识与链接