- Elliptocytosis (HP:0004445): The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. Evidence: PCS. Frequency: 3/3. (PMID:9163587)
- Decreased mean corpuscular volume (HP:0025066): A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). Evidence: PCS. Frequency: 1/3. (PMID:9163587)
- Intermittent jaundice (HP:0001046): Jaundice that is sometimes present, sometimes not. Evidence: PCS. (PMID:3580577)
- Chronic hemolytic anemia (HP:0004870): An chronic form of hemolytic anemia. Evidence: PCS. (PMID:9163587)
- Pyropoikilocytosis (HP:0004839): A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. Evidence: PCS. (PMID:9075575)
- 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:9163587)
These phenotypes are associated with the disease elliptocytosis 3 (OMIM:617948).