autosomal recessive nonsyndromic hearing loss 12

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Disease Overview

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.

Synonyms

DFNB12
autosomal recessive deafness 12
autosomal recessive nonsyndromic deafness 12
autosomal recessive nonsyndromic deafness type 12
autosomal recessive nonsyndromic hearing loss 12
deafness, autosomal recessive 12
deafness, autosomal recessive 12, modifier of
deafness, autosomal recessive type 12

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.