Conditions / Nervous system
autosomal dominant nonsyndromic deafness 85
info · Nervous system
An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36.
Signs and symptoms
- Sensorineural hearing impairment
- Cochlear nerve hypoplasia
Also known as: DFNA85; autosomal dominant deafness 85