| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Laurin-Sandrow syndrome, Haas-type polysyndactyly | polysyndactyly,mirror image duplication, etc | Autosomal Dominant | 7q36 | Duplication | 47kbDup | Lohan et al., 2014/2014 |
