Pontocerebellar hypoplasia type 14

定义 英文原文（暂无中文）

A form of pontocerebellar hypoplasia characterized by severe, progressive microcephaly and severe global developmental delay apparent from birth, severe intellectual disability with lack of social interactions and absence of speech, and pontocerebellar hypoplasia and complete or partial agenesis of the corpus callosum on brain imaging. In addition, affected individuals often present hypotonia, spastic tetraplegia, and early-onset seizures. Chronic anemia and thrombocytopenia have also been reported.

别名

PCH14

基本事实

遗传方式

常染色体隐性

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

外部标识与链接