小脑发育不良-毯层视网膜变性综合征

定义 英文原文（暂无中文）

Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus.

基本事实

发病年龄

婴儿期

患病率

<1 / 1 000 000

临床表型 9

外部标识与链接