| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| DEAFNESS AND MYOPIA (SLITRK6) | sensorineural deafness and high myopia | Autosomal recessive | 13q31.1 | Nonsense Mutation | SLITRK6 | c.120_121insT | p.(Asp41*) | - | Julia Doll et., al 2020/2020 |
