- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. (OMIM:257100)
- 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: TAS. (OMIM:257100)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: TAS. (OMIM:257100)
- 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: TAS. (OMIM:257100)
These phenotypes are associated with the disease neutropenia, lethal congenital, with eosinophilia (OMIM:257100).