This website provides information on patients with mutations in the ELOVL4 gene, including clinical data, molecular data, management and research options.
Autosomal recessive mutations in the ELOVL4 gene cause a syndrome of ichthyosis, spastic quadriplegia, and intellectual disability. Autosomal dominant mutations have been reported to cause Stargardt Macular Degeneration type 3, a juvenile form of macular degeneration, and Spinocerebellar Ataxia type 34, an autosomal dominant form of spinocerebellar ataxia.
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 ELOVL4 gene.
Dr. Fowzan 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, firstname.lastname@example.org
Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, email@example.com