| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Orofaciodigital Syndrome IV (TCTN3) | abnormalities in the oral cavity, scaphocephaly; seizures.,facial features, digits, and central nervous system | Autosomal Recessive | 10q24.1 | Splice Site | TCTN3 | c.257-1G>A | lead to a longer protein | Hussain et al., 2022/2022 |
