| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Robinow syndrome (ROR2) | short-limbed dwarfism etc | Autosomal Recessive | 9q21?q23 | Deletion | ROR2 | 1740?1774del | Asp580fs*124 | Frame shift mutation | van Bokhoven et al., 2000/2000 |
| Robinow syndrome (ROR2) | short-limbed dwarfism,dysmorphic face etc | Autosomal Recessive | 9q21?q23 | Missense | ROR2 | 565C>T | Arg189Trp | Amino Acid Substitution | Afzal et al., 2000/2000 |
| Robinow syndrome (ROR2) | short-limbed dwarfism,dysmorphic face etc | Autosomal Recessive | 9q21?q23 | Missense | ROR2 | 1096C>T | Arg366Trp | Amino Acid Substitution | Afzal et al., 2000/2000 |
