| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Frontonasal Dysplasia 3 (FND3, ALX1) | hypertelorism,prominent nasal bridge etc | Autosomal Recessive | 12q21.31 | Splice site | ALX1 | 661-1G>C | Frame shift mutation & PTC | 0/Ullah et al., 2016 |
