- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:11242115)
- 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. (PMID:11242115)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:11242115)
- Inverted CD4:CD8 ratio (HP:0033222): CD4:CD8 ratio less than 1, measured either as proportion of total CD3+ T cells, or in absolute numbers per microliter. These are usually measured within the TCR alpha/beta positive population. Normally there are relatively more CD4+ than CD8+ T cells. Evidence: PCS. Frequency: 6/6. (PMID:11242115)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 6/6. (PMID:11242115)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: PCS. Frequency: 0/6. (PMID:11242115)
- Decreased total monocyte count (HP:0012312): Abnormal decrease 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: 4/6. (PMID:11242115)
- 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: 6/6. Onset: Congenital onset (HP:0003577). (PMID:11242115)
These phenotypes are associated with the disease X-linked severe congenital neutropenia (OMIM:300299).