Phenotypes associated with the disease type II complement component 8 deficiency (OMIM:613789):
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: TAS. (OMIM:613789)
- Decreased circulating complement C8 concentration (HP:0004434): Concentration of the complement component C8 in the blood circulation below the lower limit of normal. Evidence: TAS. (OMIM:613789)
- Recurrent Neisserial infections (HP:0005430): Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). Evidence: TAS. (OMIM:613789)
- 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: TAS. (OMIM:613789)