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| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Polydactyly Postaxial Type A5 (PAPA5) | Postaxial Polydactyly | Autosomal Recessive | 13q13.3-q21.2 | - | - | - | - | - | 0/Kalsoom et al., 2012 |