| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental Disorder (FBXL3) | ID, short stature, and mild facial dysmorphology | Autosomal Recessive | 13q22.3 | Deletion Mutation | FBXL3 | c.884delT | p.(Leu295Tyrfs*25) | Frame Shift leading to Premature Termination | Paracha et al. 2024/2024 |
