- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:30945270)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 4/4. (PMID:30945270)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: PCS. Frequency: 4/4. Onset: Congenital onset (HP:0003577). (PMID:30945270)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 4/4. Onset: Juvenile onset (HP:0003621). (PMID:30945270)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: PCS. Frequency: 4/4. (PMID:30945270)
- 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: PCS. (PMID:30945270)
- Posterior staphyloma (HP:0030856): A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. Evidence: PCS. Frequency: 1/4. (PMID:30945270)
These phenotypes are associated with the disease microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 (OMIM:619082).