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GENATLAS PHENOTYPE

last update : 25-06-2010

Symbol	SGBS
Location	Xq26.2
Name	Simpson-Golabi-Behmel syndrome
Other name(s)	Bullog syndrome dysplasia gigantism syndrome, x-linked Golabi-Rosen syndrome Simpson dysmorphia syndrome
Corresponding gene	GPC3
Other symbol(s)	SGBS, SGBS1, DGSX, SDYS
Main clinical features	characterized by pre and postnatal overgrowth, visceromegaly, omphalocele, polydactyly and mental retardation of variable degree, and rare Wilms tumor
Genetic determination	sex linked
Function/system disorder	congenital malformation
	mental retardation
Type	disease

Gene product

Name	glypican 3 (GPC3), ? and/or glypican 4 (GPC4)

Remark(s)