autosomal dominant nonsyndromic hearing loss 51

Rare Disease

MONDO:0013305

Also Known As

chromosome 9q21.11 duplication syndromeDFNA51autosomal dominant deafness 51autosomal dominant nonsyndromic deafness 51autosomal dominant nonsyndromic deafness type 51chromosome 9Q21.11 Duplication syndromedeafness, autosomal dominant 51deafness, autosomal dominant type 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.