- Increased red cell osmotic fragility (HP:0005502). Evidence: IEA. (OMIM:266200)
- Decreased circulating haptoglobin concentration (HP:0020181): The concentration of haptoglobin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:35154711)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:35168679)
- Decreased hemoglobin concentration (HP:0020062): An abnormal reduction below normal hemoglobin concentration in the circulation. Evidence: PCS. Frequency: 2/2. (PMID:35168679;PMID:35154711)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: PCS. Frequency: 1/1. (PMID:35154711)
- Chronic hemolytic anemia (HP:0004870): An chronic form of hemolytic anemia. Evidence: IEA. Frequency: 1/1. (OMIM:266200)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:266200)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/2. (PMID:35168679;PMID:35154711)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: IEA. (OMIM:266200)
- Cholecystitis (HP:0001082): The presence of inflammatory changes in the gallbladder. Evidence: IEA. (OMIM:266200)
- Unconjugated hyperbilirubinemia (HP:0008282): An increased amount of unconjugated (indirect) bilurubin in the blood. Evidence: TAS. (OMIM:266200)
- Erythroid hyperplasia (HP:0012132): Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. Evidence: PCS. Frequency: 2/2. (PMID:35168679;PMID:35154711)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: IEA. Frequency: 1/1. (PMID:35154711)
- 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:1896471)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. Frequency: 1/1. (PMID:35154711)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:266200)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/2. (PMID:35168679;PMID:35154711)
- 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:35154711)
- Reduced red cell pyruvate kinase level (HP:0025109): Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. Evidence: PCS. Frequency: 1/1. (PMID:35168679)
These phenotypes are associated with the disease pyruvate kinase deficiency of red cells (OMIM:266200).