Clinical features
Mutations in the MPDZ gene may cause congenital hydrocephalus-2, a disorder characterized by excessive build-up of cerebrospinal fluid within the ventricles (fluid-containing cavities) of the brain, leading to increased pressure within the head. Variable neurologic impairments may result, and patients may have other abnormalities involving the structure of the brain, heart, and eyes.
Prevalence
The prevalence of MPDZ-related conditions cannot be accurately estimated due to the limited number of cases reported.
Inheritance
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.