Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 30-08-2017

Symbol	IMD9
Location	12q24.31
Name	Immunodeficiency 9
Corresponding gene	ORAI1
Main clinical features	early onset of recurrent infections due to defective T-cell activation affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	defense and immunity
Type	disease

Remark(s)