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

The syndrome caused by mutations in the ATRX gene is a multisystem disorder characterized by male patients, severe psychomotor developmental delay, α-thalassemia (HbH disease), distinctive facial features, genital abnormalities, skeletal abnormalities, and unique behavioural and postural abnormalities.

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

Takahito Wada, MD, PhD, Hidamari Clinic, Kyoto University, Kawasaki, Japan, takahito.wada0001@me.com