- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: IEA. (OMIM:251800)
- Anotia (HP:0009892): Complete absence of any auricular structures. Evidence: IEA. (OMIM:251800)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: IEA. (OMIM:251800)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:251800)
- Aplasia/Hypoplasia of the middle ear (HP:0008773): Aplasia or developmental hypoplasia of all or part of the middle ear. Evidence: IEA. (OMIM:251800)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: IEA. (OMIM:251800)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: IEA. (OMIM:251800)
These phenotypes are associated with the disease microtia with meatal atresia and conductive deafness (OMIM:251800).