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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
Mucopolysaccharidosis Type IV A Accumulation of GAGs,KS & C6S Autosomal Recessive 16q24.3 Missense GALNS 757C>T Arg253Trp Amino Acid Substitution 0/Monta?o et al., 2007