Phenotypes associated with the disease neutropenia, severe congenital, 10, autosomal recessive (OMIM:620534):
- Anorectal abscess (HP:0033150): An abscess located at the junction of the anal canal and the rectum. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:32273475)
- Increased total monocyte count (HP:0012311): Abnormal increase of absolute number of monocytes in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. Frequency: 1/1. (PMID:32273475)
- Bone marrow arrest at the promyelocytic stage (HP:0033607): A type of bone marrow maturation arrest characterized by accumulation of neutrophil precursor cells in the bone marrow. Evidence: PCS. Frequency: 1/1. (PMID:32273475)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 1/1. (PMID:32273475)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:32273475)
- 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:32273475)
- Dysplastic granulopoesis (HP:0012136). Evidence: PCS. Frequency: 1/1. (PMID:32273475)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:32273475)
- 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: 1/1. (PMID:32273475)