autosomal dominant auditory neuropathy 1

An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.

Signs and symptoms

• Absence of acoustic reflex
• Abnormal auditory evoked potentials
• Sensorineural hearing impairment
• Abnormal speech discrimination

Also known as: AUNA1; NSDAN; nonsyndromic dominant auditory neuropathy