| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Cataract (PEX5) | Cataract and developmental defect | Autosomal Recessive | 12p13.31 | Substitution | PEX5 | c.653 T>C | p.F218S | Missense | Ali et al., 2021 /2021 |
