| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Split Hand/Foot Malformation Type (BTRC, Microduplication) | split hands & feet | Autosomal Dominant | 10q24-25 | Duplication | BTRC,LBX1,POLL,DPCD, FBXW4 genes | 445 kb duplication | /Abdullah et al., 2023 |
