Autosomal Dominant Congenital Deafness with Onychodystrophy

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the ATP6V1B2 gene, encoding V-type proton ATPase subunit B, brain isoform. It is characterized by congenital deafness and onychodystrophy.

**Synonyms:** - Autosomal Dominant Deafness-onychodystrophy Syndrome - DDOD Syndrome