DISEASES

Disease-gene associations mined from literature

Human genes for autosomal dominant auditory neuropathy 1

Autosomal dominant auditory neuropathy 1 [DOID:0060690]

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.

Synonyms:  autosomal dominant auditory neuropathy 1,  DOID:0060690,  AUNA1,  NSDAN,  nonsyndromic dominant auditory neuropathy ...