Phenotypes associated with the disease atresia of external auditory canal and conductive deafness (OMIM:108760):
- Delayed pneumatization of the mastoid process (HP:0005906): An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. Evidence: IEA. (OMIM:108760)
- Aplasia/Hypoplasia of the middle ear (HP:0008773): Aplasia or developmental hypoplasia of all or part of the middle ear. Evidence: IEA. (OMIM:108760)
- 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:108760)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:108760)
- Stenosis of the external auditory canal (HP:0000402): An abnormal narrowing of the external auditory canal. Evidence: PCS. (OMIM:108760)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: PCS. (OMIM:108760)