- Exotropia (HP:0000577): A form of strabismus with one or both eyes deviated outward. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:440727)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:440727)
- Nasolacrimal duct obstruction (HP:0000579): Blockage of the lacrimal duct. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:440727)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:440727)
- Vitreoretinopathy (HP:0007773): Ocular abnormality characterized by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:440727)
- Abnormal optic disc morphology (HP:0012795): A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:440727)
- Retinal vascular tortuosity (HP:0012841): An increased number of twists and turns of the retinal blood vessels. This can affect either arteries, veins or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:440727)
These phenotypes are associated with the disease Combined hamartoma of the retina and retinal pigment epithelium (ORPHA:440727).