- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. (PMID:19535802)
- Necrotizing enterocolitis (HP:0033165): Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. Evidence: PCS. Frequency: 2/2. Onset: Neonatal onset (HP:0003623). (PMID:20971976)
- Recurrent Staphylococcus aureus infection (HP:0002726): Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection. Evidence: PCS. Frequency: 1/2. (PMID:20971976)
- 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:19535802)
- Recurrent abscess formation (HP:0002722): An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. Evidence: PCS. (PMID:19535802)
- Verrucae (HP:0200043): Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. Evidence: PCS. (PMID:19535802)
These phenotypes are associated with the disease immunodeficiency due to ficolin3 deficiency (OMIM:613860).