遗传性大疱性营养不良，斑点型

定义 英文原文（暂无中文）

A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.

基本事实

遗传方式

X 连锁隐性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 23

外部标识与链接