| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (ESPN) | Hearing loss | Autosomal Recessive | 1p36.31 | Delation | ESPN | c.2496_2496delC | p.(Tyr832*) | Nonsense | Richard et al., 2019/2019 |
