X连锁智力障碍，Stoll型

定义 英文原文（暂无中文）

X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked.

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 12

外部标识与链接