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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 28/06/2006 |
Symbol | DFNB30 |
Location | 10p11.1 |
Name | neurosensory deafness 30 |
Corresponding gene | MYO3A |
Main clinical features | bilateral progressive hearing loss, which first affected the high frequencies, hearing loss began in the second decade, and by age 50, was severe in high and middle frequencies and moderate at low frequencies |
Genetic determination | autosomal recessive |
Function/system disorder | ear |
Type | disease |