×

Details Of Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
SANDD Syndrome sinoatrial node dysfunction and deafness Autosomal Recessive 3p21.1 Insertion CACNA1D 1208_1209insGGG 403_404insGly Frame shift mutation Baig et al., 2011/2011