X连锁智力障碍-癫痫-银屑病综合征

定义 英文原文（暂无中文）

A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.

别名

Tranebjaerg-Svejgaard综合征

基本事实

遗传方式

X 连锁隐性

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