- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 7/8. Onset: Childhood onset (HP:0011463). (PMID:30689892)
- 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:30689892)
- Increased axial length of the globe (HP:0007800): Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. Evidence: PCS. Frequency: 3/3. (PMID:30689892)
These phenotypes are associated with the disease myopia 27 (OMIM:618827).