Severe Congenital Neutropenia Type 3, Autosomal Recessive

**Semantic type:** Disease or Syndrome

**Definition:** Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by HCLS1-associated protein X-1 (HAX1) mutations.

**Synonyms:** - Autosomal Recessive SCN, Type 3 - Kostmann Syndrome - Kostmann disease - Kostmann neutropenia - Kostmann syndrome - Neutropenia, Severe Congenital, 3, Autosomal Recessive