- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:32369452)
- Abnormal vestibular function (HP:0001751): An abnormality of the functioning of the vestibular apparatus. Evidence: PCS. Frequency: 0/3. (PMID:32369452)
- Cochlear aplasia (HP:0011375): Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. Evidence: PCS. Frequency: 3/3. (PMID:32369452)
- 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:32369452)
- Congenital sensorineural hearing impairment (HP:0008527): A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. Evidence: PCS. Frequency: 3/3. Onset: Congenital onset (HP:0003577). (PMID:32369452)
These phenotypes are associated with the disease hearing loss, autosomal recessive 118, with cochlear aplasia (OMIM:619553).