- Thrombocytosis (HP:0001894): Increased numbers of platelets in the peripheral blood. Evidence: PCS. Frequency: 13/13. (PMID:25220867)
- Quotidian fever (HP:0033087): Fever that occurs at daily intervals. Evidence: PCS. Frequency: 13/13. (PMID:25220867)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:25220867)
- Antinuclear antibody positivity (HP:0003493): The presence of autoantibodies in the serum that react against nuclei or nuclear components. Evidence: PCS. Frequency: 8/13. (PMID:25220867)
- 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:25220867)
- Periodic fever (HP:0032323): Episodic fever that recurs at regular intervals. Evidence: PCS. Frequency: 13/13. (PMID:25220867)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: PCS. (PMID:25220867)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. Frequency: 13/13. (PMID:25220867)
These phenotypes are associated with the disease juvenile arthritis due to defect in LACC1 (OMIM:618795).