| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (WHRN) | Hearing loss | Autosomal Recessive | 9q32 | Delation | WHRN | c.2388_2389delCG | p.(Asn796Lysfs*46) | Frameshift | Richard et al., 2019/2019 |
