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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
MCPH12 (CDK6) Microcephaly Autosomal Recessive 7q21.2 Missense CDK6 589G>A Ala197Thr Amino Acid Substitution 2013/Hussain et al., 2013