| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Disorder (DOLK) | Delayed developmental milestones, psychomotor development, and speech. | Autosomal Recessive | 9q34.11 | Missense | DOLK | c.3G>A | p.Met1Ile | Amino acid Substitution | Paracha et al. 2024/2024 |
