- Exercise-induced hemolysis (HP:0005535): A form of hemolytic anemia that can be triggered by exertion. Evidence: IEA. (OMIM:194380)
- Pallor (HP:0000980): Abnormally pale skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194380)
- Hemoglobinuria (HP:0003641): The presence of free hemoglobin in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194380)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194380)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194380)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194380)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194380)
- Conjunctival icterus (HP:0032106): Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:194380)
- Increased mean corpuscular hemoglobin concentration (HP:0025548): An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). Evidence: IEA. (OMIM:194380)
- Increased red cell hemolysis by shear stress (HP:0008269). Evidence: IEA. (OMIM:194380)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. (OMIM:194380)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:194380)
- 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: TAS. Frequency: Occasional (HP:0040283). (OMIM:194380)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:194380)
These phenotypes are associated with the disease dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (OMIM:194380).