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GENATLAS PHENOTYPE |
last update : 28-10-2009 |
Symbol | HLHS3 |
Location | 1q32.3 |
Name | hypoplastic left heart syndrome, PROX1 related |
Corresponding gene | PROX1 |
Genetic determination | chromosomal |
Prevalence | 1 case |
Function/system disorder | cardiovascular |
Type | malformation |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
|  
| translocation
|  
| separation of the PROX gene from upstream conserved elements in a complex inversion/translocation patient
| |
Remark(s) | to be confirmed (1 case reported) |