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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Obesity (MC4R) obese Autosomal Recessive 18q21.32 Missense MC4R 947T>C Ile316Ser Amino Acid Substitution 0/Saeed et al., 2015
Obesity (MC4R) obese Autosomal Recessive 18q21.32 Missense MC4R 482T>C Met161Thr Amino Acid Substitution 0/Saeed et al., 2015