| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Brittle Cornea Syndrome (BCS, PRDM5) | corneal thinning & fragility,ruptures etc | Autosomal Recessive | 4q27 | Splice site | PRDM5 | c.93+5G>A | Micheal et al., 2016/2016 |
