| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Disorder (NSUN6) | Developmental delay, intellectual disability, motor delay, and behavioral anomalies | Autosomal Recessive | 10p12.31 | Missense | NSUN6 | 967G>A | Asp323Asn | Amino Acid substitution | Mattioli et al., 2023/2023 |
