Phenotypes associated with the disease cataract 6 multiple types (OMIM:116600):
- 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:19306328)
- Posterior polar cataract (HP:0001115): A polar cataract that affects the posterior pole of the lens. Evidence: PCS. Frequency: 12/12. (PMID:19005574)
- 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:19005574)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: PCS. (OMIM:116600)
- Chorioretinal scalloped atrophy (HP:0001139): Well-defined, pale patches in the fundus. Evidence: PCS. (OMIM:116600)