- Aortopulmonary collateral arteries (HP:0031834): Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. Evidence: PCS. Frequency: 1/6. (PMID:24254849)
- Truncus arteriosus (HP:0001660): A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. Evidence: PCS. Frequency: 5/10. (PMID:24254849;PMID:35396997)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/6. (PMID:24254849)
- Miscarriage (HP:0005268): A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Evidence: PCS. Frequency: 3/4. (PMID:35396997)
- Antenatal onset (HP:0030674): Onset prior to birth. Evidence: PCS. Frequency: 3/6. (PMID:24254849)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/6. (PMID:24254849)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: PCS. Frequency: 3/4. (PMID:35396997)
- Aberrant right subclavian artery (HP:0031632): Abnormal origin of the right subclavian artery from the descending aorta. The right subclavian artery normally arises from the brachiocephalic trunk, which divides into the right common carotid artery and right subclavian artery. Evidence: PCS. Frequency: 1/4. (PMID:35396997)
- Left axis deviation (HP:0033568): A kind of abnormal ventricular axis in the EKG whereby the QRS axis falls between -30 degrees and -90 degrees. Evidence: PCS. Frequency: 1/4. (PMID:35396997)
- Unbalanced atrioventricular canal defect (HP:0011579): Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). Evidence: PCS. Frequency: 1/6. (PMID:24254849)
- Single ventricle of indeterminate morphology (HP:0011680). Evidence: PCS. Frequency: 1/4. (PMID:35396997)
- Late first trimester onset (HP:0034199): This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive). Evidence: PCS. Frequency: 1/3. (PMID:35396997)
- Second trimester onset (HP:0034198): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 2/3. (PMID:35396997)
- Double outlet right ventricle (HP:0001719): Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. Evidence: PCS. Frequency: 1/6. (PMID:24254849)
- Mitral atresia (HP:0011560): A congenital defect with failure to open of the mitral valve orifice. Evidence: PCS. Frequency: 1/4. (PMID:35396997)
- Transposition of the great arteries (HP:0001669): A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. Evidence: PCS. Frequency: 1/6. (PMID:24254849)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 1/4. (PMID:35396997)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:24254849)
- Pulmonary artery atresia (HP:0004935): A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. Evidence: PCS. Frequency: 1/6. (PMID:24254849)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 1/4. (PMID:35396997)
- Pulmonic stenosis (HP:0001642): 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: PCS. Frequency: 1/6. (PMID:24254849)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: PCS. Frequency: 1/4. (PMID:35396997)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: PCS. Frequency: 1/4. (PMID:35396997)
These phenotypes are associated with the disease congenital heart defects, multiple types, 9 (OMIM:620294).