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| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Polydactyly Postaxial Type A6 (ZNF141) | Postaxial Polydactyly | Autosomal Recessive | 4p16.3 | Missense | ZNF141 | 1420C>T | Thr474Ile | Amino Acid Substitution | 0/Kalsoom et al., 2013 |