| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 88 (DFNB88, ELMOD3) | severe to profound hearing loss | Autosomal Recessive | 2p12-p11.2 | Missense | ELMOD3 | 794T>C | Leu265Ser | Amino Acid Substitution | 0/Jaworek et al., 2013 |
