ATP6V1B2

Research collaboration

Aim
To observe and summarize the phenotypic spectrums of DDOD syndrome and to investigate the treatment of DDOD syndrome.

Methods
Collection of DDOD syndrome cases, report and follow-up on the phenotypes; Genetic testing for the mutation(s) of DDOD syndrome; Evaluation of treatment, e.g., the rehabilitation of hearing and language in DDOD syndrome patients after cochlea implant compared with that of cases diagnosed hearing loss but without other symptoms.