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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
Hereditary Folate Malabsorption (PCFT) impaired intestinal folate malabsorp etc Autosomal Recessive 17q11.2 Duplication PCFT (SLC46A1) 194dupG Cys66Leufs*99 Frame shift mutation & PTC 0/Meyer et al., 2010