| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing Impairment 74 (DFNB74, MSRB3) | Prelingual hearing impairment | Autosomal Recessive | 12q14.2-q15 | Missense | MSRB3 | 20T>G | Leu7Arg | Amino Acid Substitution | 0/Shafique et al., 2014 |
