- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 7/7. (PMID:33358777)
- Incomplete partition of the cochlea type II (HP:0000376): With incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. Evidence: PCS. Frequency: 3/3. (PMID:33358777)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 7/7. (PMID:33358777)
- Enlarged vestibular aqueduct (HP:0011387): Increased size of the vestibular aqueduct. Evidence: PCS. Frequency: 3/3. (PMID:33358777)
- 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:33358777)
These phenotypes are associated with the disease hearing loss, autosomal dominant 87 (OMIM:620281).