| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Roberts syndrome (ESCO2) | tetraphocomelia,MR etc | Autosomal Recessive | 8p21.1 | Deletion | ESCO2 | 2 bp-deletion | Arg293fx*299 | Frame shift mutation & PTC | Schulz et al., 2008/2008 |
