喉展肌麻痹-智力障碍综合征

定义 英文原文（暂无中文）

A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.

别名

Plott综合征

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 7

外部标识与链接