Phenotypes associated with the disease amegakaryocytic thrombocytopenia, congenital, 2 (OMIM:620481):
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/5. (PMID:28559357)
- Aplastic anemia (HP:0001915): Aplastic anemia is defined as pancytopenia with a hypocellular marrow. Evidence: PCS. Frequency: 2/2. (PMID:24085763)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 2/2. (PMID:24085763)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/5. (PMID:28559357)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/5. (PMID:28559357)
- Elevated circulating alpha-fetoprotein concentration (HP:0006254): The concentration of alpha-fetoprotein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 0/1. (PMID:24085763)
- Autosomal recessive inheritance (HP:0000007): 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:24085763)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. Frequency: 6/6. (PMID:24085763;PMID:28559357)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 7/7. (PMID:24085763;PMID:28559357)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: PCS. Frequency: 5/5. (PMID:28559357)
- 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:24085763)