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GENATLAS PHENOTYPE

last update : 13-06-2018

Symbol	SRXID
Location	Xq25
Name	STAG2-related X-linked Intellectual Deficiency
Corresponding gene	STAG2
Main clinical features	syndromic mental retardation moderate intellectual deficiency, short stature, peculiar facies, cleft palate, and deafness, large nose, prominent ears, and frontal baldness
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	disease

Remark(s)

STAG2 p.Ser327Asn (S327N) is defective in binding to cohesin and regulators in human cells and found in SRXID