This website provides information on patients with mutations in the CTU2 gene, including clinical data, molecular data, management, and research options.

Biallelic pathogenic variants in CTU2 gene are the genetic cause of microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MFRG).

This website was created to share and collect information about clinical, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the CTU2 gene.

Fadie D. Altuame, MD, Mass General Brigham, Harvard University, Boston, United States, faltuame@mgb.org

Fowzan Alkuraya, MD, ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, falkuraya@kfshrc.edu.sa