- Retinal hole (HP:0011530): A full-thickness defect in the retina. Evidence: PCS. (OMIM:608367)
- Presenile cataracts (HP:0007819): Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. Evidence: PCS. (OMIM:608367)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. (OMIM:608367)
- 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. (OMIM:608367)
These phenotypes are associated with the disease myopia 17, autosomal dominant (OMIM:608367).