| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Disorder (BCKDK) | Neurobehavioral disorder, including ID, microcephaly, and behavioral abnormalities. | Autosomal Recessive | 16p11.2 | Duplication | BCKDK | c.360dupC | p.Thr121HisfsTer7 | Frame Shift leading to Premature Termination | Paracha et al. 2024/2024 |
