| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing impairment and myopia (DFNB32, CDC14A) | Severe to profound hearing loss, compound myopic astigmatis | Autosomal Recessive | 1p21.2 | Duplication | CDC14A | c.1041dup | Ser348Glnfs*2 | Frameshift and PTC | 2020/Doll et al. 2020 |
