- Anisocytosis (HP:0011273, a Human Phenotype Ontology term): Abnormally increased variability in the size of erythrocytes. Evidence: PCS. (PMID:18408718)
- Hypochromic microcytic anemia (HP:0004840, a Human Phenotype Ontology term): A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. Evidence: PCS. (PMID:18408718)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:18408718)
- Poikilocytosis (HP:0004447, a Human Phenotype Ontology term): The presence of abnormally shaped erythrocytes. Evidence: PCS. (PMID:18408718)
- Elevated circulating hepcidin concentration (HP:0031877, a Human Phenotype Ontology term): Concentration of hepcidin in the blood circulation above the upper limit of normal. Evidence: PCS. (PMID:23729726)
These phenotypes are associated with the disease IRIDA syndrome (OMIM:206200, an entry in Online Mendelian Inheritance in Man).