This website provides information on patients with mutations in the RIC1 gene, including clinical data, molecular data, management, and research options.

Biallelic pathogenic variants in RIC1 gene are the genetic cause of CATIFA syndrome characterized mainly by cleft lip, cataract, tooth abnormalities, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder

This website was created to share and collect information about clinical, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the RIC1 gene.

Dr. Fowzan Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

Fadie D. Altuame, MD, Mass General Brigham, Harvard University, Boston, United States, faltuame@mgb.org