- Cerebral vasculitis (HP:0005318): Inflammation of the blood vessels within the brain. Evidence: PCS. Frequency: 2/2. Onset: Young adult onset (HP:0011462). (PMID:30211253)
- 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:30211253)
- CNS vasculitis with reactivation of varicella-zoster virus (HP:0034319): A vasculopathy in the central nervous system (CNS) following reactivation of varicella-zoster virus due to a productive viral infection of both large and small cerebral arteries. Evidence: PCS. Frequency: 2/2. (PMID:30211253)
These phenotypes are associated with the disease immunodeficiency 101 (varicella zoster virus-specific) (OMIM:619872).