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Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Hyper IgE Syndrome (DOCK8) eczema,skin infections,increased serum IgE levels Autosomal Recessive 9p24.3 Deletion DOCK8 2bp Frame shift mutation Dasouki et al., 2011/2011