This website provides information on patients with mutations in the JARID2 (Jumonji, At-Rich Interactive Domain 2) gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the JARID2 gene is a multisystem disorder characterized by developmental delay, intellectual disability, hypotonia, autistic features and behavioural abnormalities.

Not all individuals with a mutation in the JARID2 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 JARID2 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