This website provides information on patients with mutations in the SMARCE1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SMARCE1 gene is a multisystem disorder characterized by significant learning and developmental differences, short stature, complex congenital heart disease, feeding difficulties and seizures.

Not all individuals with a mutation in the SMARCE1 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 SMARCE1 gene.

Samantha A. Schrier Vergano, MD, Children’s Hospital of The King’s Daughters, Norfolk, VA, Samantha.vergano@chkd.org