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 | |
Synonyms |
DFNA76 [EXACT] |
Parent Relationships |