This website provides information on patients with mutations in the PIGT gene, causing Multiple congenital anomalies-hypotonia-seizures syndrome 3, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PIGT gene is a multisystem disorder characterized by hypotonia, delayed psychomotor development, seizures and dysmorphic facial features. In addition, different congenital anomalies were described. Not all individuals with a mutation in the PIGT gene have these features.

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 PIGT gene.

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

Farhad Abbasi, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, farhad.abbasi@umontreal.ca