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

The syndrome caused by mutations in the RTTN gene is a multisystem disorder characterized by primary microcephaly, primordial dwarfism, microcephaly-related facial dysmorphism, lissencephaly, polymicrogyria, and other congenital abnormalities.

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

Dr. Fowzan Alkuraya, 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

Dr. Hanan E Shamseldin, DVM, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, shanan@kfshrc.edu.sa

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