autosomal dominant nonsyndromic deafness 78 (DOID:0112159)
Alliance: disease page
Synonyms: DFNA78
Alt IDs: OMIM:619081
Definition: An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3.