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GENATLAS PHENOTYPE |
last update : 30-05-2012 |
Symbol | FDD |
Location | 13q14 |
Name | dementia, familial Danish |
Other name(s) | heredopathia ophthalmio-oto-encephalica |
Corresponding gene | ITM2B |
Other symbol(s) | HOOE |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | ear |
eye | |
Type | disease |
Gene product |
Name | ITM2B mutations (decamer duplication in the 3' region originating an amyloid peptide) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| unknown
|  
|  
| decamer duplication in the 3' region originating an amyloid peptide
| |
Remark(s) |