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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
Odonto-Onycho-Dermal Dysplasia (WNT10A) tricho-odonto-onycho-dermal Autosomal Recessive 2q35 Missense WNT10A 392C>T Ala131Val Amino Acid Substitution Nawaz et al., 2009/2009