This website provides information on patients with mutations in the PTCHD1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the PTCHD1 gene is a multisystem disorder characterized by autism spectrum disorder and/or intellectual disability, with or without gait abnormality or subtle dysmorphic features.

Not all individuals with a mutation in the PTCHD1 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 PTCHD1 gene.

John B. Vincent, PhD, Centre for Addiction and Mental Health, Toronto, Canada, john.vincent@camh.ca

Ayeshah Chaudhry, MBBS, FRCPC, Medical Geneticist, Trillium Health Partners, Mississauga, Canada. Assistant Professor, Pathobiology and Laboratory Medicine Department, University of Toronto, Canada, ayeshah.chaudhry@thp.ca