STX11

PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemophagocytic lymphohistiocytosis, familial 4, 603552, FHL4, Familial hemophagocytic lymphohistiocytosis syndromes (FHLH), HPLH4, HLH4, Fever, HSM, cHLH, cytopenias,, Diseases of Immune Dysregulation