This website provides information on patients with mutations in the OXR1 gene, including clinical data, molecular data, management and research options.

Mutations in the Oxidative Resistance 1 (OXR1) gene result in an early-onset autosomal recessive neurodevelopmental disorder called Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay (CHEGDD) characterized by delayed walking and speech, ataxia and infantile hypotonia. Not all individuals with a mutation in the OXR1 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 OXR1 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