| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Primary congenital aphakia (FOXE3) | Primary congenital aphakia | Autosomal Recessive | 1p33 | Substitution | FOXE3 | c.720C>A | p.Cys240X | Nonsense | Anjum et al., 2010/2010 |
