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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 mutationChromosome rearrangementEffectComments
missense   abnormal protein/loss of function  
Remark(s)