| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Neurodevelopmental disorder (TRAPPC4) | Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy | Autosomal recessive | 11q23.3 | Substitution | TRAPPC4 | c.454 + 3A>G | ? | Splice error | Gul et al., 2023/2023 |
