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

Mutations in the ASPH gene cause Traboulsi syndrome, a multisystem disorder characterized by facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs.

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 ASPH gene.

Dr. Fowzan Alkuraya, 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

Dr. Nish a Patel, PhD, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, npatel@KFSHRC.edu.sa

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