This website provides information on patients with mutations in the ATXN2L gene, including clinical data, molecular data, management, and research options.

A biallelic pathogenic variant in ATXN2L gene has recently been proposed to cause macrocephaly associated with global developmental delay.

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 ATXN2L gene.

Fowzan Alkuraya, MD (Hons) ABP ABMG, King Faisal Specialist Hospital and Research Center, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

Fadie D. Altuame, MBBS Intern, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, faltuame@alfaisal.edu