- Otosclerosis (HP:0000362): In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss. Evidence: IEA. (OMIM:611571)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: TAS. (OMIM:611571)
- 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:611571)
These phenotypes are associated with the disease otosclerosis 4 (OMIM:611571).