| 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 |
| Mucopolysaccharidosis Type I | Lysosomal storage disorders (LSDs) | Autosomal Recessive | 4p16.3 | Insertion | IDUA | 1173insGCTGCTGGC | p.Gua391insLeuLeuAla | Frameshift | Gul et al., 2023/2023 |
