- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:29051577)
- Decreased corneal thickness (HP:0100689): A decreased anteroposterior thickness of the cornea. Evidence: PCS. Frequency: 2/2. (PMID:29051577)
- Keratoconus (HP:0000563): A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. Evidence: PCS. Frequency: 4/4. (PMID:29051577)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 2/2. (PMID:29051577)
- 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:29051577)
These phenotypes are associated with the disease keratoconus 9 (OMIM:617928).