| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Disorder (DYNC1I2) | Mild to moderate ID, microcephaly, short stature, developmental delay, aggressive behavior, and mild facial dysmorphism. These facial features include upslanting palpebral features, anteverted nares, and a bulbous nose. | Autosomal Recessive | 2q31.1 | Splice site variant | DYNC1I2 | c.607+1G>A | ? | - | Paracha et al. 2024/2024 |
