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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
Ch?diak-Higashi syndrome (LYST) infantile-onset hemophagocytic,albinism Autosomal Recessive 1q42.3 Deletion LYST 9827_9832ATACAA Asn3276_Thr3277de Frame shift mutation Weisfeld-Adams et al., 2013/2013