- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 1/2. (PMID:29718797)
- High-frequency sensorineural hearing impairment (HP:0001757): A form of sensorineural hearing impairment that affects primarily the higher frequencies. Evidence: PCS. Frequency: 2/2. (PMID:29718797)
- 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:29718797)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 2/2. (PMID:29718797)
These phenotypes are associated with the disease cone-rod dystrophy and hearing loss 2 (OMIM:618358).