| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital syndromic anophthalmia and microphthalmia (AP4M1) | Anophthalmia and microphthalmia and/or additional phenotypes of intellectual disability, developmental delay and cerebral palsy | Autosomal Recessive | 7q22.1 | Substitution | AP4M1 | c.953G>A | p.Arg318Gln | Missense | Akbar et al, 2023/2023 |
