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GENATLAS PHENOTYPE |
last update : 05-07-2017 |
Symbol | DFNB34 |
Location | 6q22.31 |
HGNC id | 17143 |
Name | neurosensory deafness 34 |
Corresponding gene | GJA1 |
Other symbol(s) | DFNB30 |
Main clinical features | profound prelingual |
Genetic determination | autosomal recessive |
Function/system disorder | ear |
Type | disease |
Gene product |
Name | gap junction protein, alpha1, annexin 43 |
Remark(s) |