Atkin-Flaitz综合征

定义 英文原文（暂无中文）

A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers.

别名

X连锁智力障碍，Atkin型

基本事实

遗传方式

X 连锁显性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 16

外部标识与链接