The heart: thrills, lifts, heaves, rubs, with a systolic ejection murmur at both sternal borders.

Stenosis of the aortic valve is typically the next most common heart murmur, a systolic ejection murmur.

The following are also associative signs that can attest to the severity of the phenotype: pallor, poor growth, inadequate food intake, splenomegaly, jaundice, maxillary hyperplasia, dental malocclusion, cholelithiasis, systolic ejection murmur in the presence of severe anemia, and pathologic fractures.