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GENATLAS PHENOTYPE

last update : 21-10-2009

Symbol	SGBS2
Location	Xp22.2
Name	Simpson-Golabi-Behmel syndrome 2
Corresponding gene	OFD1
Main clinical features	severe form characterized by multiple anomalies, hydrops fetalis and early death in males macrocephaly and ciliary dysfunction
Genetic determination	sex linked
Function/system disorder	congenital malformation
	mental retardation
Type	disease

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