Phenotypes associated with the disease otosclerosis 3 (OMIM:608244):
- 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:608244)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: IEA. (OMIM:608244)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: IEA. (OMIM:608244)
- 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:608244)