| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mucopolysaccharidosis type IIIB (NAGLU) | Progressive neurological deterioration, developmental delays (speech delay was more than motor delay), mild hearing loss, severe ID, and coarse facial features. | Autosomal Recessive | 17q21.2 | Missense | NAGLU | c.1694G>A | p.Arg565Gln | Amino acid Substitution | Paracha et al. 2024/2024 |
| Mucopolysaccharidosis type IIIB (NAGLU) | Mucopolysaccharidosis type IIIB (Sanfilippo B) | Autosomal Recessive | 17q21.2 | Missense | NAGLU | c.1336G>A | Glu446Lys | Substitution | Cheema et al.,/2020 |
| Mucopolysaccharidosis type IIIB (NAGLU) | Mucopolysaccharidosis type IIIB (Sanfilippo B) | Autosomal Recessive | 17q21.2 | Missense | NAGLU | c.291T>G | Cys97Trp | Substitution of Amino acid | Cheema et al.,/2020 |
| Mucopolysaccharidosis type IIIB (NAGLU) | Mucopolysaccharidosis type IIIB (Sanfilippo B) | Autosomal Recessive | 17q21.2 | Missense | NAGLU | c.701G>C | Arg234Pro | Substituion of Amino acid | Cheema et al.,/2020 |
