- Gingivitis (HP:0000230): Inflammation of the gingiva. Evidence: PCS. Frequency: 1/1. (PMID:35281597)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: PCS. (PMID:12488604)
- Rectal abscess (HP:0005224): A collection of pus in the area of the rectum. Evidence: TAS. (OMIM:116920)
- Recurrent gram-negative bacterial infections (HP:0005420): Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. Evidence: TAS. (OMIM:116920)
- Hyperfibrinogenemia (HP:0011899): Increased concentration of fibrinogen in the blood. Evidence: PCS. Frequency: 1/1. (PMID:35281597)
- Delayed umbilical cord separation (HP:0032434): Separation of the umbilical cord occurs at an abnormally late timepoint. Evidence: PCS. Frequency: 6/6. (PMID:35281597;PMID:12488604)
- Neonatal omphalitis (HP:0032435): An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:3519653)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:35281597)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 1/1. (PMID:35281597)
- Periodontitis (HP:0000704): Inflammation of the periodontium. Evidence: TAS. (OMIM:116920)
- Recurrent mucocutaneous candidiasis (HP:0002728): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: PCS. Frequency: 1/1. (PMID:35281597)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 1/1. (PMID:1347532)
- 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:12488604)
- Recurrent staphylococcal infections (HP:0007499): Increased susceptibility to staphylococcal infections as manifested by recurrent episodes of staphylococcal infections. Evidence: TAS. (OMIM:116920)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: PCS. Frequency: 5/19. Onset: Childhood onset (HP:0011463). (PMID:26639818)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 1/1. (PMID:35281597)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. Frequency: 32/32. (PMID:35281597;PMID:26639818;PMID:26497373)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:35281597)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. Frequency: 1/12. (PMID:26497373)
These phenotypes are associated with the disease leukocyte adhesion deficiency 1 (OMIM:116920).