- Mosaic corneal dystrophy (HP:0007836). Evidence: PCS. (PMID:22284829)
- Lens subluxation (HP:0001132): Partial dislocation of the lens of the eye. Evidence: TAS. (OMIM:309300)
- Astigmatism (HP:0000483): A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. Evidence: TAS. (OMIM:309300)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:309300)
- Megalocornea (HP:0000485): An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. Evidence: PCS. Frequency: 16/16. Onset: Congenital onset (HP:0003577). (PMID:22284829)
- Corneal arcus (HP:0001084): A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. Evidence: PCS. Frequency: 10/16. (PMID:22284829)
- Iris transillumination defect (HP:0012805): Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. Evidence: PCS. Frequency: 8/8. (PMID:22284829)
- Abnormal intraocular pressure (HP:0012632): An anomaly in the amount of force per unit area exerted by the intraocular fluid within the eye. Evidence: PCS. Frequency: 0/8. (PMID:22284829)
- Iridodonesis (HP:0100693): Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. Evidence: TAS. (OMIM:309300)
- Decreased corneal thickness (HP:0100689): A decreased anteroposterior thickness of the cornea. Evidence: PCS. (PMID:22284829)
- 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. (PMID:22284829)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:25712132)
- Miosis (HP:0000616): Abnormal (non-physiological) constriction of the pupil. Evidence: IEA. (OMIM:309300)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 16/16. (PMID:22284829)
- Deep anterior chamber (HP:0007765): Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. Evidence: PCS. (PMID:22284829)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:309300)
These phenotypes are associated with the disease isolated congenital megalocornea (OMIM:309300).