- Abnormal vestibular function (HP:0001751): An abnormality of the functioning of the vestibular apparatus. Evidence: TAS. (PMID:18505454)
- 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: TAS. (OMIM:609439)
- Profound sensorineural hearing impairment (HP:0011476): Complete loss of hearing related to a sensorineural defect. Evidence: TAS. Onset: Congenital onset (HP:0003577). (OMIM:609439)
These phenotypes are associated with the disease autosomal recessive nonsyndromic hearing loss 48 (OMIM:609439).