CSF2RA

colony stimulating factor 2 receptor alpha subunit
OMIM: 306250, 425000
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Surfactant metabolism dysfunction, pulmonary 4, 300770, Congenital pulmonary alveolar proteinosis, hypersensitivity, Pulmonary alveolar proteinosis, Alveolar proteinosis, Congenital defects of phagocyte number or function