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GENATLAS PHENOTYPE

last update : 12-09-2017

Symbol	IMD47
Location	Xq28
Name	Immunodeficiency 47
Corresponding gene	ATP6AP1
Main clinical features	complex immunodeficiency syndrome characterized by recurrent bacterial infections, hypogammaglobulinemia, liver dysfunction, and defective glycosylation of serum proteins, associated or not with neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities
Genetic determination	sex linked
Function/system disorder	defense and immunity
Type	disease

Remark(s)