Phenotypes associated with the disease X-linked dyserythropoetic anemia with abnormal platelets and neutropenia (OMIM:300835):
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: PCS. Frequency: 8/8. (PMID:16783379)
- Elliptocytosis (HP:0004445): The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. Evidence: PCS. (PMID:16783379)
- Abnormal reticulocyte morphology (HP:0004312): A reticulocyte abnormality. Evidence: TAS. (OMIM:300835)
- Abnormal granulocytopoietic cell morphology (HP:0012135): An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:300835)
- Impaired platelet aggregation (HP:0003540): An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. Evidence: PCS. Frequency: 2/2. (PMID:16783379)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:16783379)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:16783379)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. Frequency: 5/8. (PMID:16783379)
- Macrocytic anemia (HP:0001972): A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). Evidence: PCS. Frequency: 8/8. (PMID:16783379)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 0/8. (PMID:16783379)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 6/8. (PMID:16783379)
- Poikilocytosis (HP:0004447): The presence of abnormally shaped erythrocytes. Evidence: PCS. Frequency: 6/8. (PMID:16783379)