| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital syndromic anophthalmia and microphthalmia (FOXE3) | Anophthalmia and microphthalmia and/or additional phenotypes of intellectual disability, developmental delay and cerebral palsy | Autosomal Recessive | 1p33 | Substitution | FOXE3 | c.106G>T | p.Glu36* | Nonsense | Akbar et al, 2023/2023 |
| Congenital syndrome cataract–glaucoma (FOXE3) | Congenital syndrome cataract–glaucoma | Autosomal Recessive | Substitution | FOXE3 | c.720C>A | p.(Cys240Ter) | Nonsense | Zafar et al., 2025/2025 |
