This website provides information on patients with mutations in the MPDZ gene, including clinical data, molecular data, management and research options.

Mutations in the MPDZ gene cause congenital hydrocephalus-2, an autosomal recessive disorder characterized by congenital hydrocephalus with variably dilated ventricles. Thinning of the corpus callosum, lissencephaly, neuronal heterotopia, delayed intellectual development, and variable other neurologic conditions may be found. Variable other congenital features may be observed, including coloboma and cardiac septal defects.

This website was created to share and collect information about clinic, management and research projects to deliver more knowledge and provide better treatment to patients with mutations in the MPDZ gene.

Dr. Fowzan Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics) Affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia / Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

Dr. Ranad Shaheen, PhD, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, rshaheen@kfshrc.edu.sa

Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, faltuame@alfaisal.edu