| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Hearing impairment (FGF3) | Hearing loss, cupped ears | Autosomal Recessive | 11q13.3 | Missense | FGF3 | c.166C>T | Leu56Phe | Amino acid substitution | 2020/Doll et al. 2020 |
