This website provides information on patients with mutations in the ATRXgene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ATRXgene 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 ATRXgene 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 ATRXgene.
Takahito Wada, MD, PhD, Hidamari Clinic, Kyoto University, Kawasaki, Japan, takahito.wada0001@me.com