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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 (LEPR) obese Autosomal Recessive 1p31.3 Gross Deletion LEPR 1.3 & 58.8 kb del Frame shift mutation 0/Saeed et al., 2015
Obesity (LEPR) obese Autosomal Recessive 1p31.3 Missense LEPR 1810T>A Cys604Ser Amino Acid Substitution 0/Saeed et al., 2015
Obesity (LEPR) obese Autosomal Recessive 1p31.3 Splice site LEPR 2396-1G>T Frame shift mutation 0/Saeed et al., 2015