MedGen

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene. [from MONDO]

Autosomal dominant deafness-86 (DFNA86) is characterized by late-onset progressive hearing loss through p53 (TP53; 191170)-mediated hair cell apoptosis (Zhang et al., 2020). [from OMIM]

Autosomal dominant deafness-77 (DFNA77) is characterized by progressive hearing loss affecting high frequencies beginning in the second to third decades of life and affecting all frequencies by the fourth or fifth decades (Li et al., 2019). [from OMIM]

A structural anomaly of the internal part of the ear. [from HPO]