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 )

Relationships
is a type of: autosomal dominant nonsyndromic deafness chromosomal duplication syndrome