autosomal dominant nonsyndromic deafness 51 (DOID:0110577)
Alliance: disease page
Synonyms: autosomal dominant deafness 51; chromosome 9q21.11 duplication syndrome; DFNA51
Alt IDs: OMIM:613558, ICD10CM:H90.3
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.