| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Anophthalmia/Microphthalmia (ALDH1A3) | anophthalmia and microphthalmia | Autosomal recessive | 15q26.3 | Missense Mutation | ALDH1A3 | 1240G>C | Gly414Arg | Amino Acid Substitution | 0/Lin et al., 2018 |
| Anophthalmia/Microphthalmia (ALDH1A3) | anophthalmia and microphthalmia | Autosomal recessive | 15q26.3 | Duplication Mutation | ALDH1A3 | 172dup | .Glu58Glyfs*5 | Frame Shift & PTC | 0/Lin et al., 2018 |
| Anophthalmia/Microphthalmia (ALDH1A3) | anophthalmia and microphthalmia | Autosomal recessive | 15q26.3 | Deletion | ALDH1A3 | 1310_1311delAT | Tyr437Trpfs*44 | Frame Shift & PTC | 0/Ullah et al., 2016 |
| Anophthalmia/Microphthalmia (ALDH1A3) | anophthalmia and microphthalmia | Autosomal recessive | 15q26.3 | Missense Mutation | ALDH1A3 | 964G>A | Val322Met | Amino Acid Substitution | 0/Ullah et al., 2016 |
