| 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 |
| Mucopolysaccharidosis Type IV A | Lysosomal storage disorders (LSDs) | Autosomal Recessive | 16q24.3 | Substitution | GALNS | c.871G>A | p.Ala291Thr | Missense | Gul et al., 2023/2023 |
