Severe Congenital Neutropenia |
Increased susceptibility to bacterial infections; Few mature neutrophils in the bone marrow; increased risk of leukemia; Neutropenia; Sepsis, neonatal; intermittent thrombocytopenia; Venous angiectasia; Prominent superficial venous pattern; Cryptorchidism; Splenomegaly; Hepatomegaly; Atrial septal defect; Mitral regurgitation; Pulmonic stenosis; Cor triatriatum; Patent ductus arteriosus; Growth retardation; Structural heart defects; Genitourinary tract anomalies |
Congenital defects of Phagocyte number, function or both |
Autosomal recessive |