| Metadata | |
|---|---|
| ID | DOID:0110577 |
| Name | autosomal dominant nonsyndromic deafness 51 |
| Definition | An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. https://www.ncbi.nlm.nih.gov/pubmed/20602916 |
| Xrefs | |
| Synonyms |
autosomal dominant deafness 51 [EXACT] chromosome 9q21.11 duplication syndrome [EXACT] DFNA51 [EXACT] |
| Parent Relationships |