- Abnormal erythrocyte morphology (HP:0001877): Any structural abnormality of erythrocytes (red-blood cells). Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:288)
- Elliptocytosis (HP:0004445): The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:288)
- Increased red cell osmotic fragility (HP:0005502). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:288)
- 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). (ORPHA:288)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Neonatal hyperbilirubinemia (HP:0003265): A type of hyperbilirubinemia with neonatal onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Stomatocytosis (HP:0004446): The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Poikilocytosis (HP:0004447): The presence of abnormally shaped erythrocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Congenital hemolytic anemia (HP:0004804): A form of hemolytic anemia with congenital onset. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:288)
- Cholelithiasis (HP:0001081): Hard, pebble-like deposits that form within the gallbladder. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:288)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:288)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:288)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:288)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:288)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:288)
- Chills (HP:0025143): A sudden sensation of feeling cold. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:288)
These phenotypes are associated with the disease Hereditary elliptocytosis (ORPHA:288).