label: Severe Congenital Neutropenia Type 4, Autosomal Recessive
label_lc: severe congenital neutropenia type 4, autosomal recessive
description: Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by mutation(s) in the G6PC3 gene, encoding glucose-6-phosphatase 3. It is characterized by cardiac abnormalities, hepatosplenomegaly, intermittent thrombocytopenia and a prominent superficial venous pattern.