- Hypoplastic iris stroma (HP:0007990): Underdevelopment of the stroma of iris. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:69736)
- Abnormal iris pigmentation (HP:0008034): Abnormal pigmentation of the iris. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:69736)
- Abnormal anterior chamber morphology (HP:0000593): Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69736)
- 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:69736)
- Abnormal corneal endothelium morphology (HP:0011488): Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69736)
- Abnormal eye morphology (HP:0012372): A structural anomaly of the globe of the eye, or bulbus oculi. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69736)
- Ocular pain (HP:0200026): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:69736)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69736)
- Pigment deposition in the trabecular meshwork (HP:0012631): Accumulation of abnormal amounts of pigment within the trabecular meshwork. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69736)
- Iris pigment dispersion (HP:0012634): Shedding of the pigment granules that normally adhere to the back of the iris into the aqueous humor. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:69736)
These phenotypes are associated with the disease Bilateral acute depigmentation of the iris (ORPHA:69736).