Phenotypes associated with the disease cataract 24 (OMIM:601202):
- Anterior polar cataract (HP:0001134): A polar cataract that affects the anterior pole of the lens. Evidence: PCS. Frequency: 17/17. Onset: Infantile onset (HP:0003593). (PMID:8852669)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 16/17. Onset: Infantile onset (HP:0003593). (PMID:8852669)
- Anterior lenticonus (HP:0011501): A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. Evidence: PCS. Frequency: 0/17. (PMID:8852669)
- 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:8852669)