Phenotypes associated with the disease cataract 30 (OMIM:116300):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:26694549;PMID:28450710)
- Pulverulent cataract (HP:0010693): A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. Evidence: PCS. Frequency: 1/1. (PMID:19126778)
- Posterior polar cataract (HP:0001115): A polar cataract that affects the posterior pole of the lens. Evidence: PCS. Frequency: 2/2. (PMID:28450710)
- 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:19126778)
- Diffuse nuclear cataract (HP:0007657): Opacity of the entire lens nucleus. Evidence: PCS. Frequency: 1/1. (PMID:26694549)