| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Goldenhar syndrome (craniofacial microsomia) (FOX13) | structures derived from the first and second pharyngeal arches, can occur unilaterally and include ear dysplasia, microtia, preauricular tags and pits, facial asymmetry | Autosomal Recessive | 2p11.2 | Missense | FOX13 | c.702C>A | Phe234Leu | Amino Acid substitution | /Mao et al., 2023 |
