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GENATLAS PHENOTYPE |
last update : 25-01-2012 |
Symbol | MYHRS |
Location | 18q21.2 |
Name | Myhre syndrome |
Corresponding gene | SMAD4 |
Main clinical features |
|
Genetic determination | not applicable |
Function/system disorder | ear |
osteo-articular | |
mental retardation | |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
|  
| |
Remark(s) |