X连锁智力障碍-共济失调-失用症

定义 英文原文（暂无中文）

A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.

基本事实

遗传方式

X 连锁隐性

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 5

外部标识与链接