Term Name: | autosomal dominant nonsyndromic deafness 76 |
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Synonyms: | DFNA76 |
Definition: | An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. |
Ontology: | Human Disease [DOID:0112167] ( DOID:0112167 ) |