- Heinz bodies (HP:0020082): A type of erythrocyte inclusion composed of denatured hemoglobin. Evidence: PCS. (PMID:29298156)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/19. (PMID:9674740)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 3/19. (PMID:9674740)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/19. (PMID:9674740)
- Hemoglobinuria (HP:0003641): The presence of free hemoglobin in the urine. Evidence: IEA. (OMIM:300908)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: IEA. (OMIM:300908)
- Decreased circulating glucose-6-phosphate dehydrogenase activity (HP:0410179): The activity of glucose-6-phosphate dehydrogenase in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 20/20. (PMID:9674740)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 4/19. (PMID:9674740)
- Unconjugated hyperbilirubinemia (HP:0008282): An increased amount of unconjugated (indirect) bilurubin in the blood. Evidence: PCS. (PMID:9674740)
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: IEA. (OMIM:300908)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 7/19. (PMID:9674740)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/19. (PMID:9674740)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. (PMID:9674740)
- Fava bean-induced hemolytic anemia (HP:0004814): A kind of hemolytic anemia that is induced by the ingestion of fava beans. Evidence: PCS. Frequency: 16/16. (PMID:29298156;PMID:9674740)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 11/11. (OMIM:300908;PMID:29298156)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: PCS. (PMID:29298156)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: PCS. Frequency: 19/19. (PMID:9674740)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: PCS. Frequency: 11/11. (OMIM:300908;PMID:29298156)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 17/20. (PMID:9674740)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: PCS. Frequency: 1/1. (PMID:29298156)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: IEA. (OMIM:300908)
- Poikilocytosis (HP:0004447): The presence of abnormally shaped erythrocytes. Evidence: IEA. (OMIM:300908)
These phenotypes are associated with the disease anemia, nonspherocytic hemolytic, due to G6PD deficiency (OMIM:300908).