Phenotypes associated with the disease autosomal recessive nonsyndromic hearing loss 30 (OMIM:607101, an entry in Online Mendelian Inheritance in Man):
- Progressive sensorineural hearing impairment (HP:0000408, a Human Phenotype Ontology term): A progressive form of sensorineural hearing impairment. Evidence: TAS. (OMIM:607101)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:12032315)
- Progressive hearing impairment (HP:0001730, a Human Phenotype Ontology term): A progressive form of hearing impairment. Evidence: PCS. (PMID:12032315)