- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:25460178)
- T-wave alternans (HP:0012266): A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:25460178)
- Bradycardia (HP:0001662): A slower than normal heart rate (in adults, slower than 60 beats per minute). Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:25460178)
- Second degree atrioventricular block (HP:0011706): An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:25460178)
- Perimembranous ventricular septal defect (HP:0011682): A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:25460178)
- Prolonged QTc interval (HP:0005184): A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:25460178)
- Patent ductus arteriosus after birth at term (HP:0011648): Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:25460178)
- 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:25460178)
These phenotypes are associated with the disease long QT syndrome 16 (OMIM:618782).