| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Polydactyly preaxial/triphalangeal thumb (ZRS) | polydactyly/triphalangeal thumb | Autosomal Dominant | 7q36 | Missense | ZRS, LMBR1 | 463T>G | 0/Farooq et al., 2010 |
