This website provides information on patients with mutations in the CHD8 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the CHD8 gene is a multisystem disorder characterized by autism spectrum disorder, intellectual disability or developmental delay, gastrointestinal issues, macrocephaly, epilepsy or seizures, dysmorphic features, sleep issues, and attention issues.

Not all individuals with a mutation in the CHD8 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 CHD8 gene.

Raphael Bernier, PhD, University of Washington/Seattle Children’s Hospital, Seattle, WA, USA, rab2@uw.edu

Bert de Vries,MD, PhD,Department of Human Genetics, Radboud University Medical Center Nijmegen, The Netherlands, Bert.deVries@radboudumc.nl

Evan Eichler, PhD, University of Washington, Seattle, USA, eee@gs.washington.edu