- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: PCS. (PMID:25385754)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. (PMID:25385754)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:25385754)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. (PMID:25385754)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:25385754)
These phenotypes are associated with the disease familial cold autoinflammatory syndrome 4 (OMIM:616115).