| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment(PCDH15) | severe to profound hearing loss | Autosomal Recessive | 10q21.1 | Missense Mutation | PCDH15 | 3101G>A | Arg1034His | Missense Mutation and PTC | 0/Schrauwen I et.al,...2018 |
| Hearing Loss(PCDH15) | deafness | Autosomal Recessive | 10q21.1 | Frameshift Mutation | PCDH15 | Deletion of exons 14 and 15 | Deletion of exons 14 and 15 | Frame Shift Mutation and PTC | 0/Richard EM et.al.,,,2018 |
