This website provides information on patients with mutations in the CLCN3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CLCN3 gene is a multisystem disorder characterized by global developmental delay (GDD), intellectual disability (ID),neurodevelopmental phenotypes of variable severity, and neuroanatomical abnormalities.

Not all individuals with a mutation in the CLCN3 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 CLCN3 gene.


Professor Pankaj Agrawal, MD, MMSc, UM Miller School of Medicine, Holtz Children’s Hospital, Jackson Health System, Miami, Florida, United States, pagrawal@miami.edu
Tzofia Drori, MS, LCGC, University of Miami Miller School of Medicine, Miami, Florida, United States, tnd35@miami.edu