- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79434)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79434)
- Abnormal optic nerve morphology (HP:0000587): Abnormality of the optic nerve. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79434)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79434)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79434)
- Melanocytic nevus (HP:0000995): A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79434)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79434)
- Albinism (HP:0001022): An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79434)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79434)
- Freckling (HP:0001480): The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79434)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79434)
- Melanoma (HP:0002861): The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79434)
- Hypopigmentation of hair (HP:0005599). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79434)
- Squamous cell carcinoma of the skin (HP:0006739): Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79434)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79434)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79434)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79434)
These phenotypes are associated with the disease Oculocutaneous albinism type 1B (ORPHA:79434).