- Abnormal fundus morphology (HP:0001098): Any structural abnormality of the fundus of the eye. Evidence: PCS. Frequency: 0/1. (PMID:8075643)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 0/1. (PMID:8075643)
- Early-onset non-progressive night blindness (HP:0007642): A usually nonprogressive (i.e., stationary) form of night blindness with early (presumed to be congenital) onset. Evidence: TAS. Frequency: 1/1. (OMIM:163500)
- 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:8075643)
- Moderate myopia (HP:0031624): A moderate form of myopia with refractive error of between -3.00 and -6.00 diopters. Evidence: PCS. Frequency: 1/1. (PMID:8075643)
These phenotypes are associated with the disease congenital stationary night blindness autosomal dominant 2 (OMIM:163500).