- Elliptocytosis (HP:0004445): The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. Evidence: PCS. (PMID:3597773)
- Neonatal hyperbilirubinemia (HP:0003265): A type of hyperbilirubinemia with neonatal onset. Evidence: PCS. Onset: Neonatal onset (HP:0003623). (PMID:27667160)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. (PMID:27667160)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: PCS. (PMID:29729090)
- 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:3597773)
These phenotypes are associated with the disease elliptocytosis 2 (OMIM:130600).