Phenotypes associated with the disease cataract 20 multiple types (OMIM:116100):
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 18/18. (PMID:18587492;PMID:16141006)
- Nuclear cataract (HP:0100018): A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. Evidence: PCS. Frequency: 7/7. Onset: Congenital onset (HP:0003577). (PMID:19262743)
- Cortical cataract (HP:0100019): A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. Evidence: PCS. Frequency: 14/14. (PMID:16141006)
- Lamellar cataract (HP:0007971): A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. Evidence: PCS. Frequency: 4/4. (PMID:18587492)
- Sutural cataract (HP:0010695): A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. Evidence: PCS. Frequency: 4/4. (PMID:18587492)
- 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:16141006)