This website provides information on patients with mutations in the SMG9 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SMG9 gene is a multisystem disorder characterized by craniofacial dysmorphism, congenital heart disease, and brain malformation.

Not all individuals with a mutation in the SMG9 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 SMG9 gene.

Dr. Fowzan Alkuraya, MD, 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

Dr. Ranad Shaheen, PhD, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, rshaheen@kfshrc.edu.sa

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