Phenotypes associated with the disease night blindness, congenital stationary, type1i (OMIM:618555, an entry in Online Mendelian Inheritance in Man):
- Nyctalopia (HP:0000662, a Human Phenotype Ontology term): Inability to see well at night or in poor light. Evidence: PCS. Frequency: 5/5. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:29559409)
- Tritanomaly (HP:0000552, a Human Phenotype Ontology term): Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. Evidence: PCS. Frequency: 2/5. (PMID:29559409)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:29559409)