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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 (PGAP2) Cognitive impairment Autosomal Recessive 11p15.4 Substitution PGAP2 530G>C Arg177Pro Missense 0/Hansen et al., 2013