Homozygous autosomal recessive mutations in the MPDZ gene cause congenital hydrocephalus-2 (HYC2), which is characterized by congenital hydrocephalus with variably dilated ventricles, thinning of the corpus callosum, lissencephaly, seizures, delayed intellectual development, and variable other congenital features including cardiac septal defects and coloboma of the iris.
The prevalence of MPDZ-related conditions cannot be ascertained with precision due to the limited number of cases identified to date. The carrier frequency of c.628C>T, p.(Gln210*) mutation was estimated to be at 0.00044 (Shaheen et al. 2017).
MPDZ-related disorders are inherited in an autosomal recessive manner.