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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 I Accumulation of degraded GAGs Autosomal Recessive 4p16.3 Missense IDUA 1469T>C Leu490Pro Amino Acid Substitution Arora et al., 2007/2007
Mucopolysaccharidosis Type I Accumulation of degraded GAGs Autosomal Recessive 4p16.3 nonsense mutation IDUA 1456G>T Glu486* Pre-mature Termination Gul et al., 2019/2019