Phenotypes associated with the disease otosclerosis 12 (OMIM:620792, an entry in Online Mendelian Inheritance in Man):
- Otosclerosis (HP:0000362, a Human Phenotype Ontology term): 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. Frequency: 4/4. (PMID:37399313)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 7/7. (PMID:37399313)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/7. (PMID:37399313)
- Late onset (HP:0003584, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 2/7. (PMID:37399313)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/7. (PMID:37399313)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:37399313)