Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome

定义 英文原文（暂无中文）

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by mild to profound intellectual disability, language and motor delays, bilateral congential/early-onset cataracts, combined malonic and methylmalonic aciduria and microcephaly. Movement disorders including ataxia, orofacial and limb dystonia, myoclonus and tremor have also been reported in the majority of the patients. Some patients may also present with facial dysmorphism including long face, hypertelorism and maxillary hyperplasia.

别名

ZBTB11-related neurodevelopmental disorder

基本事实

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

外部标识与链接