This website provides information on patients with mutations in the SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 1 (SMARCD1) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the SMARCD1 gene is called Coffin-Siris syndrome 11 (CSS11) and is a multisystem disorder characterized by developmental delay, intellectual disability, hypotonia, feeding difficulty, and small hands and feet. Not all individuals with a mutation in the SMARCD1 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 SMARCD1 gene.
Campeau Philippe, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, firstname.lastname@example.org
Coralie Michaud, MD, University of Montreal, Montreal, Canada, email@example.com