This website provides information on patients with mutations in the TMCO1 gene, including clinical and molecular data, disease management, and research.

TMCO1 Defect Syndrome (OMIM #213980) is caused by mutations in the TMCO1 gene. It is a multi-organ disorder characterized by many clinical features, including distinctive craniofacial dysmorphism, skeletal anomalies, and global developmental delay.

This website was created to share and collect information about management and research projects to gather more knowledge and provide insights for better treatment of patients affected with TMCO1 Defect Syndrome.

Heng Wang, MD, PhD, DDC Clinic Center for Special Needs Children, Middlefield, Ohio, United States of America,  wang@ddcclinic.org

Baozhong Xin, PhD, DDC Clinic Molecular Diagnostics Laboratory, Middlefield, Ohio, United States of America,  bxin@ddcclinic.org

Bea Torres-Fults, RN, BSN, DDC Clinic Molecular Diagnostics Laboratory, Middlefield, Ohio, United States of America, bea@ddcclinic.org