| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (EDNRB) | Hearing loss | Autosomal Recessive | 13q22.3 | Substitution | EDNRB | c.553G>A | p.(Val185Met) | Missense | Richard et al., 2019/2019 |
