痉挛性截瘫-青光眼-智力障碍综合征

定义 英文原文（暂无中文）

A rare autosomal recessive complex spastic paraplegia characterized by the triad of spastic paraplegia, severe intellectual disability and glaucoma. Some patients may exhibit a milder phenotype, presenting with slowly progressive spastic paresis and moderate intellectual disability. There have been no further descriptions in the literature since 1986.

基本事实

遗传方式

常染色体隐性

发病年龄

成年期

患病率

<1 / 1 000 000

临床表型 4

外部标识与链接