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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Familial Haemophagocytic Lym 5 (STXBP2) hemophagocytic lymphohistiocytosis Autosomal Recessive 19p13.2 Missense STXBP2 1214G>A Arg405Gln Amino Acid Substitution Cetica et al., 2010/2010