This website provides information on patients with mutations in the MYO18B gene, including clinical data, molecular data, management, and research options.

Biallelic pathogenic variants in MYO18B gene is the genetic cause of autosomal recessive Klippel-Feil syndrome 4 with myopathy and facial dysmorphism.

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 MYO18B gene.

Dr. Fowzan Alkuraya, MD (Hons) ABP ABMG, Department of Genetics, King Faisal Specialist Hospital and Research Center / College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa

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