This website provides information on patients with mutations in the Phosphatidylinositol glycan anchor biosynthesis class H protein (PIGH) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PIGH gene is called Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) and is a multisystem disorder characterized by developmental delay, seizures, behavioural difficulties, and hypotonia. Not all individuals with a mutation in the PIGH gene have these features.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the PIGH gene.

Philippe Campeau, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, p.campeau@umontreal.ca

Coralie Michaud, MD, University of Montreal, Montreal, Canada, coralie.michaud@umontreal.ca