This website provides information on patients with mutations in the SMG8 gene, including clinical data, molecular data, management, and research options.

The syndrome caused by mutations in the SMG8 gene is a multisystem disorder characterized by severe global developmental delay, microcephaly, facial dysmorphism, and variable congenital heart and eye malformations.

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 SMG8 gene.

Dr. Fowzan Alkuraya, MD, Clinical Genetics and Clinical Molecular Genetics, Department of Genetics, King Faisal Specialist Hospital and Research Center / 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