| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing impairment and myopia (SLITRK6) | Severe to profound hearing loss, compound myopic astigmatis | Autosomal Recessive | 13q31.1 | Insertion | SLITRK6 | c.120_121insT | Asp41* | PTC | 2020/Doll et al. 2020 |
