- Hemeralopia (HP:0012047): A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. Evidence: TAS. (OMIM:310500)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:16670814)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 5/5. (PMID:16670814)
- 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: PCS. Frequency: 5/5. (PMID:16670814)
- High myopia (HP:0011003): A severe form of myopia with greater than -6.00 diopters. Evidence: PCS. Frequency: 4/5. (PMID:16670814)
These phenotypes are associated with the disease congenital stationary night blindness 1A (OMIM:310500).