This website provides information on patients with mutations in the DCAF17 gene, including clinical data, molecular data, management and research options.

Mutations in the DCAF17 gene cause Woodhouse-Sakati syndrome, an autosomal recessive disorder characterized by hypogonadism, alopecia, deafness, diabetes mellitus, intellectual disability, and progressive extrapyramidal defects.

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 DCAF17 gene.

Fowzan S. 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