- Shallow anterior chamber (HP:0000594): Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. Evidence: PCS. Frequency: 11/11. (PMID:25561690)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: IEA. (OMIM:602499)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:602499)
- 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: 11/11. (PMID:25561690)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: IEA. (OMIM:602499)
- Reduced visual acuity (HP:0007663). Evidence: IEA. (OMIM:602499)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. Frequency: 11/11. (PMID:25561690)
- Macular atrophy (HP:0007401): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells in the macula. Evidence: IEA. (OMIM:602499)
- Flat cornea (HP:0007720): Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. Evidence: PCS. Frequency: 11/11. (PMID:25561690)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. Frequency: 11/11. (PMID:25561690)
- 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:25561690)
- Chorioretinal coloboma (HP:0000567): Absence of a region of the retina, retinal pigment epithelium, and choroid. Evidence: PCS. Frequency: 11/11. (PMID:25561690)
- Increased axial length of the globe (HP:0007800): Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. Evidence: PCS. Frequency: 11/11. (PMID:25561690)
- Optic disc coloboma (HP:0000588): A cleft of the optic nerve that extends inferiorly. Evidence: PCS. Frequency: 9/11. (PMID:25561690)
These phenotypes are associated with the disease colobomatous macrophthalmia-microcornea syndrome (OMIM:602499).