CEBPE

CCAAT/enhancer binding protein epsilon
OMIM: 600749
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Specific granule deficiency, 245480, Specific granule deficiency 1, CCAAT/enhancer binding protein epsilon deficiency (CEBPE), Recurrent infection due to specific granule deficiency, neutrophil lactoferrin deficiency, Neutrophils with bilobed nuclei, Congenital defects of phagocyte number or function