severe congenital neutropenia 4

info · Genetic

A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31.

Signs and symptoms

Decreased total neutrophil count
Prominent superficial veins
Cryptorchidism
Secundum atrial septal defect
Hearing impairment
Increased total monocyte count
Varicose veins
Single transverse palmar crease
Decreased total lymphocyte count
Pectus carinatum

Also known as: Dursun syndrome; SCN4; autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome