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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