X连锁智力障碍，Stevenson型

定义 英文原文（暂无中文）

X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.

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 22

外部标识与链接