| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (SEZ6) | Hearing loss | Autosomal Recessive | 17q11.2 | Substitution | SEZ6 | c.2092G>A | p.(Val698Ile) | Missense | Bharadwaj et al., 2022/2022 |
