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GENATLAS PHENOTYPE |
last update : 27-03-2019 |
Symbol | DTGA |
Location | 12q24.21 |
Name | dextro-looped transposition of the great arteries |
Corresponding gene | MED13L |
Main clinical features |
|
Genetic determination | not applicable |
Function/system disorder | cardiovascular |
Type | malformation |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
|  
| E251G , R1872H, and D2023G, mostly frequent
| deletion
|  
| haploinsufficiency
| in two patients with a similar phenotype of hypotonia, moderate mental retardation, conotruncal heart defect and facial anomalies (PMID: 23403903)
| |
Remark(s) |