Term Name: | autosomal dominant nonsyndromic deafness 78 |
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Synonyms: | DFNA78 |
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. |
Ontology: | Human Disease [DOID:0112159] ( DOID:0112159 ) |