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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
Intellectual Disability, Nonsyndromic (ZNF589) Cognitive impairment 3p21.31 Substitution ZNF589 c.956T>A p.Leu319His Missense Z Agha et al., 2014/2014