Phenotypes associated with the disease autosomal recessive nonsyndromic hearing loss 18B (OMIM:614945):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:23122587)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 3/6. (PMID:23122587)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: PCS. Frequency: 6/6. (PMID:23122587)
- 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:23122587)
- Vestibular hyporeflexia (HP:0001756): A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance. Evidence: PCS. Frequency: 4/6. (PMID:23122587)