| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Intellectual Disability (TRAPPC6B) | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | Autosomal Recessive | 14q21.1 | Splice site | TRAPPC6B | c.267+1G>A | - | Exon skipping | Rasool et al., 2023/2023 |
