| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (OTOA) | Hearing loss | Autosomal Recessive | 16p12.2 | Substitution | OTOA | c.1352G>A | p.(Gly451Asp) | Missense | Richard et al., 2019/2019 |
