This website provides information on patients with mutations in the ATP6V1B2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the ATP6V1B2 gene is a multisystem disorder characterized by congenital deafness, absent nails and/or toes with variable presence of brachydactyly, hypoplastic distal phalanges, bulbous distal phalanges and learning and memory disorder. Not all individuals with a mutation in the ATP6V1B2 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 ATP6V1B2 gene.

Yongyi Yuan, MD, PhD, Departments of Otolaryngology Head & Neck Surgery, Chinese PLA General hospital, Beijing, China, yyymzh@163.com

Pu Dai, MD, PhD, Departments of Otolaryngology Head & Neck Surgery, Chinese PLA General hospital, Beijing, China, daipu301@vip.sina.com

Xi Lin, PhD, Dept of Otolaryngology-Head & Neck Surgery, Emory University School of Medicine, Atlanta, USA, xlin2@emory.edu