STXBP2 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A condition of decreased or absent presence of syntaxin-binding protein 2. Deficiency of this protein is associated with familial hemophagocytic lymphohistiocytosis type 5.

**Synonyms:** - MUNC18-2 Deficiency - MUNC18-2 Deficiency/STXBP2