Haemophagocytic syndrome with absent XIAP expression (Version: )

Relevant disorders: R18
Signed off date: 14 Sept 2023
Panel types: GMS Rare Disease, GMS signed-off
1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A