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GENATLAS PHENOTYPE |
last update : 24-10-2011 |
Symbol | OBLFC1 | |
Location | 22q11.2-q12.3 | |
Name | oblique facial clefting 1 | |
Other name(s) | oculomaxillofacial dysplasia with oblique facial clefts | |
Corresponding gene | SPECC1L | |
Main clinical features | oblique facial clefting , oromedial canthal cleft , Tessier type IV | |
Genetic determination | autosomal dominant | |
Function/system disorder
Type
| malformation
| |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
|  
| |
Remark(s) |