Phenotypes associated with the disease familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome (OMIM:616722):
- Posterior synechiae of the anterior chamber (HP:0011484): Adhesions between the iris and the lens. Evidence: PCS. (PMID:26056285)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: PCS. (PMID:26056285)
- Reduced visual acuity (HP:0007663). Evidence: PCS. (PMID:26056285)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. Frequency: 6/9. Onset: Congenital onset (HP:0003577). (PMID:26056285)
- 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:26056285)
- Retinal atrophy (HP:0001105): A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells. Evidence: PCS. (PMID:26056285)