Phenotypes associated with the disease autosomal recessive nonsyndromic hearing loss 47 (OMIM:609946):
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 5/5. Onset: Infantile onset (HP:0003593). (PMID:16261342)
- Abnormal vestibular function (HP:0001751): An abnormality of the functioning of the vestibular apparatus. Evidence: PCS. Frequency: 0/5. (PMID:16261342)
- 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:16261342)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 0/5. (PMID:16261342)