Severe Congenital Neutropenia Type 4, Autosomal Recessive

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - Dursun Syndrome - Neutropenia, Severe Congenital, 4, Autosomal Recessive - SCN 4-Autosomal Recessive - SCN4