This website provides information on patients with mutations in the KCNK9 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the KCNK9 gene is a multisystem disorder characterized by a variety of symptoms including distinctive facial features, varying degrees of intellectual disability, and generalized low muscle tone. Not all individuals with a mutation in the KCNK9 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 KCNK9 gene.

John M. Graham, Jr., MD, ScD, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA, john.graham@cshs.org

Margot A. Cousin, PhD, Department of Health Sciences Research, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA, cousin.margot@mayo.edu

Emma L. Veale, PhD, Medway School of Pharmacy, University of Kent, Chatham Maritime, Kent, UK, e.l.veale@kent.ac.uk

Matthew Deardorff, DEARDORFF@email.chop.edu