Phenotypes associated with the disease autosomal recessive nonsyndromic hearing loss 46 (OMIM:609647):
- 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:15637723)
- Profound sensorineural hearing impairment (HP:0011476): Complete loss of hearing related to a sensorineural defect. Evidence: PCS. Frequency: 9/9. Onset: Infantile onset (HP:0003593). (PMID:15637723)
- Absent vestibular function (HP:0008555): Complete lack of functioning of the vestibular apparatus. Evidence: PCS. Frequency: 0/9. (PMID:15637723)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/9. (PMID:15637723)