This website provides information on patients with mutations in the TRMT1 gene, including clinical data, molecular data, management and research options.
Pathogenic variants in the TRMT1 gene lead to autosomal recessive intellectual developmental disorder-68 (MRT68; MIM: #618302), a disorder characterized by intellectual disability, developmental delay, and mild facial dysmorphism.
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 TRMT1 gene.
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