Phenotypes associated with the disease Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin (OMIM:603529):
- Anisocytosis (HP:0011273): Abnormally increased variability in the size of erythrocytes. Evidence: TAS. (OMIM:603529)
- Anemia of inadequate production (HP:0010972): A kind of anemia characterized by inadequate production of erythrocytes. Evidence: TAS. (OMIM:603529)
- Oval macrocytosis (HP:0032566): Enlarged, oval-shaped erythrocytes (red blood cells). Evidence: PCS. (PMID:9858240)
- 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: TAS. (OMIM:603529)
- Poikilocytosis (HP:0004447): The presence of abnormally shaped erythrocytes. Evidence: TAS. (OMIM:603529)