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autosomal dominant nonsyndromic deafness 76
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0112167
- Mondo Disease Ontology
- OMIM
