- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/7. (PMID:30585370)
- Posterior cortical cataract (HP:0010924): A cataract that affects the posterior part of the cortex of the lens. Evidence: PCS. Frequency: 7/7. (PMID:30585370)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 4/6. (PMID:30585370)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/7. (PMID:30585370)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 6/6. (PMID:30585370)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (PMID:30585370)
These phenotypes are associated with the disease cataract 49 (OMIM:619593).