DEF6

DEF6, guanine nucleotide exchange factor
OMIM: 610094
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 87 and autoimmunity, OMIM:619573, Enteropathy, hepatosplenomegaly, cardiomyopathy, recurrent infections