autosomal dominant nonsyndromic deafness 51

Term ID

DOID:0110577

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. https://www.ncbi.nlm.nih.gov/pubmed/20602916

References

• ICD10CM:H90.3
• OMIM:613558

Ontology

Human Disease   ( DOID:0110577 )