婴儿脉络膜脑钙化综合征

定义 英文原文（暂无中文）

A rare syndromic intellectual disability characterized by severe intellectual disability and calcification of the choroid plexus, associated with elevated cerebrospinal fluid protein concentration. Additional signs and symptoms include strabismus, increased deep tendon reflexes, and foot deformities, among others. There have been no further descriptions in the literature since 1993.

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 5

外部标识与链接