- 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: PCS. (PMID:16168495)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. (PMID:16168495)
- Abnormality of the acoustic reflex (HP:0040121): An abnormality in the reflexive contraction of the middle-ear muscles in response to sound stimulation. Evidence: PCS. (PMID:16168495)
- Childhood onset sensorineural hearing impairment (HP:0011474): Sensorineural hearing impairment with childhood onset. Evidence: PCS. Onset: Childhood onset (HP:0011463). (PMID:16168495)
- 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: PCS. Onset: Young adult onset (HP:0011462). (PMID:16168495)
- Progressive hearing impairment (HP:0001730): A progressive form of hearing impairment. Evidence: PCS. (PMID:16168495)
- 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: PCS. (PMID:16168495)
These phenotypes are associated with the disease otosclerosis 7 (OMIM:611572).