This website provides information on patients with mutations in the UFM1 gene, including clinical data, molecular data, management, and research options.
Biallelic pathogenic variants in UFM1 gene are the genetic cause of autosomal recessive hypomyelinating leukodystrophy-14 (HLD14).
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 UFM1 gene.
Dr. Fowzan Alkuraya, MD (Hons) ABP ABMG, King Faisal Specialist Hospital and Research Center, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org
Fadie D. Altuame, MBBS Intern, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, email@example.com