Phenotypes associated with the disease familial episodic pain syndrome with predominantly upper body involvement (OMIM:615040):
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:20547126)
- Episodic pain (HP:0032148): Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals. Evidence: PCS. (PMID:20547126)
- 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:20547126)