- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 3/3. Onset: Adult onset (HP:0003581). (PMID:17185460)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. (PMID:17185460)
- Autosomal recessive inheritance (HP:0000007): 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:17185460)
- Reduced erythrocyte glutathione reductase activity (HP:6000525): Activity of glutathione reductase (EC 1.6.4.2) in erythrocytes below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:17185460)
- Fava bean-induced hemolytic anemia (HP:0004814): A kind of hemolytic anemia that is induced by the ingestion of fava beans. Evidence: PCS. (PMID:17185460)
These phenotypes are associated with the disease hemolytic anemia due to glutathione reductase deficiency (OMIM:618660).