This website provides information on patients with mutations in the ATPase, H+ Transporting, Lysosomal, 16-KD, V0 Subunit C (ATP6V0C) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ATP6V0C gene is a multisystem disorder characterized by developmental delay, intellectual disability, and early-onset epilepsy.

Not all individuals with a mutation in the ATP6V0C 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 ATP6V0C 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