| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Frontorhiny (ALX3) | Mid-facial malformations | Autosomal Recessive | 1p13.3?p13.2 | Nonsense | ALX3 | 604C>T | Gln202* | PTC | 0/Ullah et al., 2017 |
