Autosomal recessive cerebellar ataxia with mental retardation

An autosomal recessive condition caused by mutation(s) in the CRADD gene, encoding death domain-containing protein CRADD. It is characterized by mild to moderate intellectual disability and lissencephaly with anterior-predominant pachygyria.

Disease Alternative Name

mental retardation
autosomal recessive 34
with variant lissencephaly

Trending Cases