This website provides information on patients with mutations in the VPS13B gene, including clinical data, molecular data, management, and research options.
Cohen Syndrome (OMIM #216550) is caused by mutations in the VPS13B gene. It is a multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive myopia and retinopathy, and neutropenia. Not all individuals with a mutation in the VPS13B gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the VPS13B gene.
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
Sarah Ossler, MS, CGC, LGC, DDC Clinic Molecular Diagnostics Laboratory, Middlefield, Ohio, United States of America, Sarah@DDCclinic.org