This website provides information on patients with mutations in the TSEN15 gene, including clinical data, molecular data, management and research options.

Mutations in the TSEN15 gene cause pontocerebellar hypoplasia type 2F, a disorder characterized by pontocerebellar hypoplasia, progressive microcephaly, intellectual disability, motor delay, and seizures.

This website was created to share and collect information about clinic, management and research projects to deliver more knowledge and provide better treatment to patients with mutations in the TSEN15 gene.

Fowzan S Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia / Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

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