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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
Waardenburg Anophthalmia Syndrome (SMOC-1) anophthalmia-syndactyly Autosomal Recessive 14q23.1-q24.3 Missense SMOC1 812G>A Cys271Tyr Amino Acid Substitution Ullah et al., 2017/2017