- Epiphora (HP:0009926): Abnormally increased lacrimation, that is, excessive tearing (watering eye). Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:26749309)
- Iris atrophy (HP:0001089): Loss of iris tissue (atrophy). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:122000)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Onset: Infantile onset (HP:0003593). (PMID:26749309)
- Band keratopathy (HP:0000585): An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. Evidence: PCS. (PMID:26749309)
- Polymorphous posterior corneal dystrophy (HP:0007915): This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. Evidence: PCS. (PMID:26749309)
- Ectopia pupillae (HP:0009918): A malposition of the pupil owing to a developmental defect of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:122000)
- 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: PCS. (PMID:26749309)
- Thinning of Descemet membrane (HP:0031159): A reduction in the thickness of Descemet's membrane. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:26749309)
- Abnormal Descemet membrane morphology (HP:0011490): Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. Evidence: PCS. (PMID:26749309)
- Anterior synechiae of the anterior chamber (HP:0011483): Adhesions between the iris and the cornea. Evidence: PCS. (PMID:26749309)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:26749309)
- Uveal ectropion (HP:0025358): Presence of iris pigment epithelium on the anterior surface of the iris. Evidence: PCS. (PMID:26749309)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:26749309)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: PCS. (PMID:26749309)
These phenotypes are associated with the disease posterior polymorphous corneal dystrophy 1 (OMIM:122000).