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Metadata
ID DOID:0112167
Name autosomal dominant nonsyndromic deafness 76
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.
https://pubmed.ncbi.nlm.nih.gov/30872814/, https://pubmed.ncbi.nlm.nih.gov/31397523/, https://pubmed.ncbi.nlm.nih.gov/31432506/
Xrefs

OMIM:618787

Synonyms

DFNA76 [EXACT]

Parent Relationships

is_a autosomal dominant nonsyndromic deafness

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