| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Oculoauricular syndrome (HMX1) | Oculoauricular syndrome | Autosomal Recessive | 4p16.1 | Substitution | HMX1 | c.457C>T | p(Arg153Ter) | Nonsense | Ansar et al., 2022/2022 |
