X连锁智力障碍-视网膜色素变性综合征

定义 英文原文（暂无中文）

X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.

别名

Xp11.3微缺失所致色素性视网膜炎伴智力障碍

基本事实

遗传方式

X 连锁隐性

发病年龄

产前、婴儿期、新生儿期

患病率

<1 / 1 000 000（Europe）

临床表型 2

外部标识与链接