| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (EPS8) | Hearing loss | Autosomal Recessive | 12p12.3 | Substitution | EPS8 | c.205–8A>G | Splice error | Richard et al., 2019/2019 |
