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GENATLAS PHENOTYPE

last update : 08-09-2017

Symbol	IMD44
Location	12q13.3
Name	Immunodeficiency 44
Corresponding gene	STAT2
Main clinical features	primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination in some patients; affected individuals appear to have defects in mitochondrial fission and fusion
Genetic determination	autosomal recessive
Function/system disorder	defense and immunity
Type	disease

Remark(s)