In patients initially diagnosed with idiopathic neutropenia, variants in ELANE, G6PC3 or VPS13B supported diagnoses of congenital neutropenia or Cohen syndrome —a multisystem autosomal recessive disorder characterized by developmental delay, characteristic facial features, retinal dystrophy, and non-cyclic neutropenia that is often mild to moderate and non-fatal [34]. Here, ELANE is linked to Cohen syndrome.