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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 (TRAPPC9) Cognitive impairment Autosomal Recessive 8q24.3 Substitution TRAPPC9 1024+1G>T - - 0/Kakar et al., 2012
Intellectual Disability, Nonsyndromic (TRAPPC9) Cognitive impairment Autosomal Recessive 8q24.3 Substitution TRAPPC9 1422C>T Arg475* Nonsense 0/Mir et al., 2009