- Discoid lupus rash (HP:0007417, a Human Phenotype Ontology term): 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: PCS. Frequency: 2/2. (PMID:8630118)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/1. (PMID:21654842)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:8630118)
- Recurrent bacterial meningitis (HP:0007274, a Human Phenotype Ontology term): An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. Evidence: PCS. Frequency: 1/1. (PMID:21654842)
- Antinuclear antibody positivity (HP:0003493, a Human Phenotype Ontology term): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 2/2. (PMID:8630118)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:8630118)
- Decreased circulating C1q concentration (HP:0034601, a Human Phenotype Ontology term): Concentration or activity of the C1q protein in the blood circulation below the lower limit of normal. C1q is the first component of the classical pathway and is composed of the C1qA chain, C1qB chain, and C1qC chain, which are encoded by C1qA, C1qB, and C1qC genes. Evidence: PCS. Frequency: 3/3. (PMID:21654842;PMID:8630118)
- Neonatal omphalitis (HP:0032435, a Human Phenotype Ontology term): An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. Evidence: PCS. Frequency: 1/2. (PMID:8630118)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/2. (PMID:8630118)
These phenotypes are associated with the disease C1Q deficiency 3 (OMIM:620322, an entry in Online Mendelian Inheritance in Man).