- Peripheral arterial stenosis (HP:0004950, a Human Phenotype Ontology term): Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. Evidence: TAS. (OMIM:185500)
- Supravalvular aortic stenosis (HP:0004381, a Human Phenotype Ontology term): A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. Evidence: TAS. (OMIM:185500)
- Pulmonic stenosis (HP:0001642, a Human Phenotype Ontology term): A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis). Evidence: TAS. (OMIM:185500)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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: TAS. (OMIM:185500)
- Pulmonary artery stenosis (HP:0004415, a Human Phenotype Ontology term): An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. Evidence: TAS. (OMIM:185500)
These phenotypes are associated with the disease supravalvular aortic stenosis (OMIM:185500, an entry in Online Mendelian Inheritance in Man).