| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Split Hand/Foot Malformation Type 1 (DLX5) | split hands & feet | Autosomal Dominant | 7q21.2-21.3 | Deletion | DLX5 | 722delC | Pro241Leufs*68 | Frame shift mutation & PTC | 0/Abdullah et al., 2023 |
