Phenotypes associated with the disease autosomal dominant nonsyndromic hearing loss 50 (OMIM:613074, an entry in Online Mendelian Inheritance in Man):
- Progressive sensorineural hearing impairment (HP:0000408, a Human Phenotype Ontology term): A progressive form of sensorineural hearing impairment. Evidence: TAS. (OMIM:613074)
- 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. (PMID:19363479)
- Tinnitus (HP:0000360, a Human Phenotype Ontology term): Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:613074)
- Progressive hearing impairment (HP:0001730, a Human Phenotype Ontology term): A progressive form of hearing impairment. Evidence: PCS. (PMID:19363479)
- 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:19363479)