- Stomatocytosis (HP:0004446): The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. Evidence: PCS. (PMID:16227998)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: PCS. (PMID:16227998)
- Reticulocytosis (HP:0001923): An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. Evidence: TAS. (OMIM:185020)
- Pseudohyperkalemia (HP:4000194): Pseudohyperkalemia describes a falsely elevated potassium level upon measurement of the serum electrolyte concentration due to disruption of cells during the collection or processing of the sample. Evidence: PCS. (PMID:16227998)
- 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:16227998)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. (PMID:16227998)
These phenotypes are associated with the disease cryohydrocytosis (OMIM:185020).