| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 23 (DFNB23, PCDH15) | Profound hearing impairment | Autosomal Recessive | 10q21.1 | Missense | PCDH15 | 400C>G | Arg134Gly | Amino Acid Substitution | 0/Ahmed et al., 2008 |
