- Peripheral arterial stenosis (HP:0004950): 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: PCS. (OMIM:126320)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. (OMIM:126320)
- Varicose veins (HP:0002619): Enlarged and tortuous veins. Evidence: PCS. (OMIM:126320)
- Pedal edema (HP:0010741): An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. Evidence: PCS. (OMIM:126320)
- Distichiasis (HP:0009743): Double rows of eyelashes. Evidence: PCS. (OMIM:126320)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: PCS. (OMIM:126320)
- 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. (OMIM:126320)
- Sinus bradycardia (HP:0001688): Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. Evidence: PCS. (OMIM:126320)
These phenotypes are associated with the disease distichiasis with congenital anomalies of the heart and peripheral vasculature (OMIM:126320).