This website provides information on patients with mutations in the SMARCA5 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SMARCA5 gene is a multisystem disorder characterized by a variable neurodevelopmental phenotype with predominantly mild development delay and intellectual disability, short stature, and microcephaly.

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 SMARCA5 gene.

Dong Li, PhD, Children’s Hospital of Philadelphia, Philadelphia, PA, USA, lid2@chop.edu

Matthew A. Deardorff, MD, PhD, Children's Hospital Los Angeles, Los Angeles, CA, USA, mdeardorff@chla.usc.edu