| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (MPDZ) | Hearing loss | Autosomal Recessive | 9p23 | Substitution | MPDZ | c.2324C>T | p.(Pro775Leu) | Missense | Bharadwaj et al., 2022/2022 |
