This website provides information on patients with mutations in the TMEM94 gene, including clinical data, molecular data, management and research options.
Mutations in the TMEM94 gene cause Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies (IDDCDF), an autosomal recessive disorder characterized by intellectual disability with global developmental delay, congenital heart disease, and dysmorphic facial fea-tures. There is a variable involvement of the skeletal, respiratory, gastrointestinal, and genitou-rinary systems.
This website was created to share and collect information about clinic, management and re-search projects to deliver more knowledge and provide better treatment to patients with muta-tions in the TMEM94 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
Joshi Stephen, PhD, Postdoctoral Fellow, Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Re-search Institute, National Institutes of Health, Bethesda, Maryland, USA, email@example.com
Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org