• Thoracic aortic aneurysm at the level of the aortic root and/or ascending aorta
• Arterial tortuosity
• Atrial/ventricular septal defect
• Joint hypermobility
• Skin hyperlaxity
• Umbilical hernia
• Hypotonia
• Developmental motor delay
• Hypertelorism
• Ptosis
• Bifid uvula or cleft palate
• Pectus excavatum/carinatum
• Arachnodactyly/camptodactyly
• Scoliosis
• Club foot
• Immunological abnormalities
IPO8