- Arteriovenous malformation (HP:0100026): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. Evidence: PCS. Frequency: 8/50. (PMID:14639529)
- Capillary malformation (HP:0025104): A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). Evidence: PCS. Frequency: 48/50. (PMID:14639529)
- Arteriovenous fistula (HP:0004947): An abnormal connection between an artery and vein. Evidence: PCS. Frequency: 2/50. (PMID:14639529)
- Capillary hemangioma (HP:0005306): The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. Evidence: PCS. (PMID:14639529)
- 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:14639529)
These phenotypes are associated with the disease capillary malformation-arteriovenous malformation 1 (OMIM:608354).