| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (ADAMTS1) | Hearing loss | Autosomal Recessive | 21q21.3 | Substitution | ADAMTS1 | c.403T>G | p.(Ser135Ala) | Missense | Bharadwaj et al., 2022/2022 |
