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GENATLAS PHENOTYPE |
last update : 11-09-2018 |
Symbol | DFNA60 |
Location | 2p11.2 |
Name | neurosensory deafness 60 |
Corresponding gene | ELMOD3 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | ear |
Type | disease |
Remark(s) | . p.His171Arg resulted in abnormal expression levels of ELMOD3 and abnormal subcellular localization (PMID: 29713870)) |