Stimmler综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, dwarfism, severe intellectual disability, diabetes meilitus and enamel hypoplasia associated with alaninuria and high levels of alanine pyruvate and lactate in the blood. Affected individuals have low birth weight and they often develop limb ataxia that may lead to inability to walk. 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、新生儿期

患病率

<1 / 1 000 000

临床表型 9

外部标识与链接