- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:29955957)
- Abnormal semicircular canal morphology (HP:0011380): An abnormality of the morphology of the semicircular canal. Evidence: PCS. Frequency: 2/2. (PMID:29955957)
- Cochlear aplasia (HP:0011375): Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. Evidence: PCS. Frequency: 2/2. (PMID:29955957)
- Dilated vestibule of the inner ear (HP:0011379): Dilatation of the vestibule of the inner ear. Evidence: PCS. Frequency: 2/2. (PMID:29955957)
- 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:29955957)
- Congenital sensorineural hearing impairment (HP:0008527): A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. Evidence: PCS. Frequency: 2/2. (PMID:29955957)
- Cochlear nerve aplasia (HP:6000988): A developmental defect causing an absence of the cochlear nerve resulting in sensorineural hearing loss. Evidence: TAS. (OMIM:619274)
These phenotypes are associated with the disease hearing loss, autosomal dominant 80 (OMIM:619274).