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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 (TUSC3) Cognitive impairment Autosomal Recessive 8p22 Deletion TUSC3 170.673 Kb deletion after 1st exon - NMD 0/Khan et al., 2011
Intellectual Disability, Nonsyndromic (TUSC3) Cognitive impairment Autosomal Recessive 8p22 Deletion TUSC3 170.673 Kb deletion after 1st exon - NMD 0/Khan et al., 2011