- 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:24039609)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: PCS. Frequency: 6/6. Onset: Infantile onset (HP:0003593). (PMID:24039609)
These phenotypes are associated with the disease autosomal recessive nonsyndromic hearing loss 88 (OMIM:615429).