- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: IEA. (OMIM:216950)
- Discoid lupus rash (HP:0007417): Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. Evidence: IEA. (OMIM:216950)
- Nephritis (HP:0000123): The presence of inflammation affecting the kidney. Evidence: TAS. (OMIM:216950)
- Reduced circulating complement concentration (HP:0004431): An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. Evidence: IEA. (OMIM:216950)
- Arthralgia (HP:0002829): Joint pain. Evidence: IEA. (OMIM:216950)
- 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: IEA. (OMIM:216950)
- Recurrent bronchitis (HP:0002837): An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. Evidence: TAS. (OMIM:216950)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. (OMIM:216950)
These phenotypes are associated with the disease complement component C1r/C1s deficiency (OMIM:216950).