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nonsyndromic recessive deafness
Genetics:
- autosomal recessive
- associated with defects in
a) harmonin gene
b) otoferlin gene
c) COMT2 gene
d) SLC26A5 gene
Laboratory:
- SLC26A5 gene mutation
General
familial deafness
Database Correlations
OMIM 601071
References
UniProt :accession Q9Y6N9