Phenotypes associated with the disease hearing loss, autosomal dominant 81 (OMIM:619500, an entry in Online Mendelian Inheritance in Man):
- Abnormal vestibular function (HP:0001751, a Human Phenotype Ontology term): An abnormality of the functioning of the vestibular apparatus. Evidence: PCS. Frequency: 0/9. (PMID:29713870)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 9/9. (PMID:29713870)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:29713870)
- 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:29713870)