- Erythroid hypoplasia (HP:0012133): Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. Evidence: PCS. Frequency: 2/2. (PMID:28280134)
- Steroid-responsive anemia (HP:0033074): Amelioration of anemia upon treatment with a steroid medication. Evidence: PCS. Frequency: 2/2. Onset: Infantile onset (HP:0003593). (PMID:28280134)
- 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:28280134)
- 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: 2/2. (PMID:28280134)
- Granulocytic hypoplasia (HP:0012139): Decreased number of granulocyte precursors in the bone marrow. Evidence: PCS. Frequency: 2/2. (PMID:28280134)
These phenotypes are associated with the disease Diamond-Blackfan anemia 18 (OMIM:618310).