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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 (NSUN2) Cognitive impairment Autosomal Recessive 5p15.31 Substitution NSUN2 2035G>A Gly679Arg Missense 0/Khan et al., 2012
Intellectual Disability, Nonsyndromic (MRT16) Cognitive impairment Autosomal Recessive 9p23-p13.3 - Not Identified - - - 0/Rafiq et al., 2010