| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Polydactyly, Pre-Axial (STKLD1) | Pre-axial polydactyly | Autosomal Recessive | 9q34.2 | nonsense mutation | STKLD1 | 84C>A | Tyr28* | Pre-mature Termination | Umair et al., 2019/2019 |
