| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Inherited retinal dystrophy (ADAM9) | Cone-rod dystrophy 9 | Autosomal Recessive | 8p11.22 | Substitution | ADAM9 | c.1144T>G | p.Phe382Val | Missense | Biswas et al., 2021/2021 |
