Phenotypes associated with the disease Oculocutaneous albinism type 4 (ORPHA:79435):
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79435)
- Reduced visual acuity (HP:0007663). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79435)
- Abnormal retinal pigmentation (HP:0007703): Any deviation from the normal pigmentation of the retina. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79435)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79435)
- 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:79435)
- 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:79435)
- 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: Frequent (HP:0040282). (ORPHA:79435)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79435)
- Ocular albinism (HP:0001107): An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79435)
- Hypopigmentation of hair (HP:0005599). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79435)
- Iris hypopigmentation (HP:0007730): An abnormal reduction in the amount of pigmentation of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79435)
- White hair (HP:0011364): Hypopigmented hair that appears white. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79435)
- 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: Frequent (HP:0040282). (ORPHA:79435)
- Nevus (HP:0003764): A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79435)
- Neoplasm of the skin (HP:0008069): A tumor (abnormal growth of tissue) of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79435)