| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| CEBALID syndrome (MN1) | Delay in the development of the child, difficulty speaking verbally, and unique facial traits. | Autosomal Dominant | 22q12.2 | Nonsense | MN1 | c.3680G>A | p.Trp1227Ter | Pre-Mature Termination | Hussain et al., 2024/2024 |
