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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
Roberts syndrome (ESCO2) tetraphocomelia,MR etc Autosomal Recessive 8p21.1 Deletion ESCO2 2 bp-deletion Arg293fx*299 Frame shift mutation & PTC Schulz et al., 2008/2008