智力障碍-痉挛-缺指（趾）综合征

定义 英文原文（暂无中文）

Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).

别名

Jancar综合征

基本事实

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 9

外部标识与链接