Autosomal dominant nonsyndromic hearing loss 51
Autosomal dominant nonsyndromic hearing loss 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.
Also known as chromosome 9q21.11 duplication syndrome — per MONDO