This website provides information on individuals with mutations in the SMARCC2 gene, including clinical data, molecular data, management, and research options.

Mutations in the SMARCC2 gene cause a disorder characterized by mild to severe intellectual disability, developmental delay with prominent speech delay, behavioural abnormalities, growth retardation, hypotonia, and dysmorphic 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 SMARCC2 gene.

Keren Machol, MD, PhD, Baylor College of Medicine, Houston, TX, United States, keren.machol@bcm.edu

Philippe Campeau, MD, University of Montreal, Montreal, Canada, p.campeau@umontreal.ca

Vandana Shashi, MD, Duke University Medical Center, Durham, NC, United States, Vandana.shashi@duke.edu