| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Bjornstad Syndrome (BCS1L) | Pilitorti and nerve deafness | Autosomal Recessive | 2q35 | Missense | BCS1L | 901T>A | Tyr301Asn | Amino Acid Substitution | Siddiqi et al., 2013/2013 |
