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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
UGT1A1 Crigler?Najjar,Gilbert syndrome Autosomal Recessive 2q37.1 Missense UGT1A1 689A>G Lys230Cys Amino Acid Substitution Khan et al., 2013/2013