- Alacrima (HP:0000522): Absence of tear secretion. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:91416)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91416)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91416)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91416)
- 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:91416)
- Lacrimal gland hypoplasia (HP:0007732): Underdevelopment of the lacrimal gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91416)
- Distichiasis (HP:0009743): Double rows of eyelashes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91416)
- Corneal erosion (HP:0200020): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:91416)
- Lacrimal punctal atresia (HP:0007820): Congenital absence or closure of the opening of the lacrimal punctum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:91416)
These phenotypes are associated with the disease Isolated congenital alacrima (ORPHA:91416).
The following phenotypes are NOT associated with this disease:
- Achalasia (HP:0002571): A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. Evidence: TAS. (ORPHA:91416)