- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/4. (PMID:26148990)
- Thrombocytosis (HP:0001894): Increased numbers of platelets in the peripheral blood. Evidence: PCS. Frequency: 2/4. (PMID:26148990)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. (OMIM:616689)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/4. (PMID:26148990)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/4. (PMID:26148990)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. (OMIM:616689)
- Acanthocytosis (HP:0001927): Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. Evidence: PCS. Frequency: 3/3. (PMID:26148990)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. Frequency: 4/4. Onset: Congenital onset (HP:0003577). (PMID:26148990)
- 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: PCS. Frequency: 4/4. (PMID:26148990)
- Bite cells (HP:0020122): Red blood cells that appear to have parts of them bitten away. Evidence: PCS. Frequency: 3/3. (PMID:26148990)
- Increased mean corpuscular volume (HP:0005518): Larger than normal size of erythrocytes. Evidence: PCS. Frequency: 1/4. (PMID:26148990)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. Frequency: 4/4. (PMID:26148990)
- Anisopoikilocytosis (HP:0004823): A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. Evidence: PCS. Frequency: 3/3. (PMID:26148990)
- 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: PCS. (PMID:26148990)
- 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. (OMIM:616689)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 3/3. (PMID:26148990)
These phenotypes are associated with the disease dehydrated hereditary stomatocytosis 2 (OMIM:616689).