ATP6V1B2

Clinical Characteristics

The clinical characteristics of DDOD syndrome are:

  • Congenital severe to profound sensorineural hearing loss without inner ear malformation.
  • Dystrophic or absent nails, absence of all toenails, nails of thumbs and little fingers.
  • Dysplasia of the index finger nails, middle finger nails and ring finger nails.
  • Absence of the middle phalanx in the fifth fingers.
  • Conical and hypoplastic teeth.
  • Subtle learning and memory disorder.