- Carotid artery occlusion (HP:0012474): Complete obstruction of a carotid artery. Evidence: IEA. (OMIM:252350)
- Telangiectasia (HP:0001009): Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. Evidence: IEA. (OMIM:252350)
- 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: IEA. (OMIM:252350)
- Inflammatory arteriopathy (HP:0005291). Evidence: IEA. (OMIM:252350)
These phenotypes are associated with the disease moyamoya disease 1 (OMIM:252350).