Term Name: | autosomal dominant nonsyndromic deafness 51 |
---|---|
Synonyms: | autosomal dominant deafness 51, chromosome 9q21.11 duplication syndrome, DFNA51 |
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. |
Ontology: | Human Disease [DOID:0110577] ( DOID:0110577 ) |