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GENATLAS PHENOTYPE

last update : 5/06/2006

Symbol	CRS11
Location	10q26.13
Name	craniosynostosis, syndromatic 11
Corresponding gene	FGFR2
Main clinical features	associated with ocular anterior chamber dysgenesis hydrocephalus, cloverleaf skull deformity and elbow contractures
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
	congenital malformation
	eye
Type	disease

Gene product

Name	fibroblast growth factor receptor 2 (FGFR2), Ser35/Cys

Remark(s)