Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Definition

A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration.

Acronym

PCH2C

Keywords

Neurodegeneration