- Abnormal semicircular canal morphology (HP:0011380): An abnormality of the morphology of the semicircular canal. Evidence: PCS. Frequency: 2/2. (PMID:29107558)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:29107558)
- Absent vestibular function (HP:0008555): Complete lack of functioning of the vestibular apparatus. Evidence: IEA. Frequency: 0/2. (PMID:29107558)
- 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. Onset: Congenital onset (HP:0003577). (PMID:29107558)
These phenotypes are associated with the disease hearing loss, autosomal recessive 109 (OMIM:618013).