- Blue irides (HP:0000635): A markedly blue coloration of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79433)
- 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:79433)
- Hypopigmentation of the skin (HP:0001010): A reduction of skin color related to a decrease in melanin production and deposition. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79433)
- 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: Frequent (HP:0040282). (ORPHA:79433)
- Red hair (HP:0002297). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79433)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79433)
- Generalized hypopigmentation of hair (HP:0011358): Reduced pigmentation of hair diffusely. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79433)
- 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: Occasional (HP:0040283). (ORPHA:79433)
- White eyebrow (HP:0002226): White color (lack of pigmentation) of the eyebrow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79433)
- White eyelashes (HP:0002227): White color (lack of pigmentation) of the eyelashes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79433)
- Optic nerve misrouting (HP:0025551): Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79433)
- Blue nevus (HP:0100814): A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79433)
- Absent skin pigmentation (HP:0200098): Lack of skin pigmentation (coloring). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79433)
These phenotypes are associated with the disease Oculocutaneous albinism type 3 (ORPHA:79433).