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GENATLAS PHENOTYPE

last update : 11-07-2023

Symbol	OFC5
Location	4p16.2
Name	orofacial cleft 5
Other name(s)	cleft lip with or without cleft palate, nonsyndromic, 5
Corresponding gene	MSX1
Other symbol(s)	CLP, CL, CP
Main clinical features	nonsyndromic cleft lip with or without cleft palate
Genetic determination	multigenic
Function/system disorder	digestive tract/gastrointestinal
Type	susceptibility factor

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
various types			missence or silent mutations of uncertain pathogenic significance

Remark(s)

mutations of MSX1 are also associated with tooth agenesis; the most recent estimates suggest that anywhere from 3 to 14 genes contribute to cleft lip and palate