This website provides information on patients with mutations in the WASF1 gene, including clinical data, molecular data, management and research options.

The WASF1 gene is related to a neurodevelopmental disorder with absent language and variable seizures. Patients with WASF1 variants have shown variable degrees of developmental delay/intellectual disability, seizures, hypotonia, and microcephaly. Behavior abnormalities have also been known as complications.

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 WASF1 gene.

Toshiyuki Yamamoto, Prof, MD, PhD, Tokyo Women’s Medical University, Japan, yamamoto.toshiyuki@twmu.ac.jp