- High palate (HP:0000218, a Human Phenotype Ontology term): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:370091)
- Photophobia (HP:0000613, a Human Phenotype Ontology term): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:370091)
- Nystagmus (HP:0000639, a Human Phenotype Ontology term): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:370091)
- Abnormal fundus morphology (HP:0001098, a Human Phenotype Ontology term): Any structural abnormality of the fundus of the eye. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:370091)
- Ocular albinism (HP:0001107, a Human Phenotype Ontology term): An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:370091)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:370091)
- Hypoplasia of the fovea (HP:0007750, a Human Phenotype Ontology term): Underdevelopment of the fovea centralis. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:370091)
These phenotypes are associated with the disease Oculocutaneous albinism type 5 (ORPHA:370091, an Orphanet rare-disease identifier).