This website provides information on patients with mutations in the PIK3R2 gene, including clinical data, molecular data, management and research options. Disorders caused by mutations in the PIK3R2 gene include the megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome and bilateral perisylvian polymicrogyria (BPP).
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PIK3R2 gene.
Ghayda Mirzaa, MD, University of Washington School of Medicine, Seattle, Washington, USA, Ghayda.mirzaa@seattlechildrens.org
William B. Dobyns, MD, University of Washington School of Medicine, Seattle, Washington, USA, wbd@uw.edu