This website provides information on patients with mutations in the C12orf57 gene, including clinical data, molecular data, management and research options.
Mutations in the C12orf57 gene cause an autosomal recessive disorder called Temtamy syndrome, which is characterized by intellectual disability, profound global developmental delay, intractable seizures, hypotonia, colobomatous microphthalmia, and corpus callosum abnormalities.
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 C12orf57 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