| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| DEAFNESS,microtia, and microdontia(FGF3) | severe HL and cupped ears | Autosomal recessive | 11q13.3 | Missense Mutation | FGF3 | c.166C>T | p.(Leu56Phe) | Amino acid substitution | Julia Doll et., al 2020/2020 |
