- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/5. (PMID:24791901)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/5. (PMID:24791901)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/5. (PMID:24791901)
- 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:24791901)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 5/5. (PMID:24791901)
- Perifoveal ring of hyperautofluorescence (HP:0030629). Evidence: PCS. (PMID:24791901)
- Cone/cone-rod dystrophy (HP:0000548). Evidence: PCS. (PMID:24791901)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 2/5. (PMID:24791901)
- Undetectable pattern electroretinogram (HP:0030844): Absent response to a pattern electroretinogram (PERG). Evidence: PCS. Frequency: 4/4. (PMID:24791901)
These phenotypes are associated with the disease cone-rod dystrophy 19 (OMIM:615860).