Conditions / Syndrome
autosomal dominant congenital deafness with onychodystrophy
info · Syndrome
A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21.
Signs and symptoms
- Small nail
- Bilateral sensorineural hearing impairment
- Absent fifth fingernail
- Absent thumbnail
- Absent middle phalanx of 5th finger
- Sensorineural hearing impairment
- High forehead
- Bilateral triphalangeal thumbs
- Absent toenail
- Nail dystrophy