This website provides information on patients with mutations in the IFT27 gene, including clinical data, molecular data, management, and research options.

Biallelic pathogenic variants in IFT27 gene are the genetic cause of Bardet-Biedl syndrome 19 characterized mainly by intellectual disability, obesity, polydactyly, hypogonadism, and renal failure.

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 IFT27 gene.

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