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Human Disease
autosomal dominant nonsyndromic deafness 76
- Term ID
- DOID:0112167
- Synonyms
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- 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. (3)
- References
- Ontology
- Human Disease ( DOID:0112167 )
- is a type of
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