羟赖氨酸尿症所致癫痫-智力障碍综合征

定义 英文原文（暂无中文）

A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期

患病率

<1 / 1 000 000

临床表型 3

外部标识与链接