severe congenital neutropenia 4 (DOID:0112136)
Alliance: disease page
Synonyms: autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; Dursun syndrome; SCN4; severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Alt IDs: OMIM:612541, ORDO:331176
Definition: A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.