| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impaiment (STX4) | Congenital hearing impairment | Autosomal Recessive | 16p11.2 | Splice site substitution | STX4 | c.232 + 6T>C | Schrauwen et al., 2023/2023 |
