| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (OTOG ) | Hearing loss | Autosomal Recessive | 11p15.1 | Delation | OTOG | c.7235delG | p.(Arg2412Hisfs*77) | Frameshift | Richard et al., 2019/2019 |
