- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. (OMIM:300843)
- 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:300843)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: TAS. (OMIM:300843)
- 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: TAS. (OMIM:300843)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: TAS. (OMIM:300843)
- Protanopia (HP:0011522): Blue and green cones only; no functional red cones. Evidence: TAS. (OMIM:300843)
- Deuteranopia (HP:0011521): Complete lack of the M photopigment, which is replaced with the L photopigment. Affected individuals tend to confuse red and green. Evidence: TAS. (OMIM:300843)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: TAS. (OMIM:300843)
- Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654): Decreased amplitude of eletrical response upon electroretinography. Evidence: TAS. (OMIM:300843)
These phenotypes are associated with the disease X-linked cone dysfunction syndrome with myopia (OMIM:300843).