This website provides information on patients with mutations in the FAM149B1 gene, including clinical data, molecular data, management and research options.

Mutations in the FAM149B1 gene lead to FAM149B1-related ciliopathy in humans, a disease characterized by a range of ciliopathy phenotypes along the spectrum of Joubert syndrome and oral-facial-digital syndrome (OFD VI).

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 FAM149B1 gene.

Fowzan 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