- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: TAS. Frequency: 32/413. (PMID:15690347)
- Coarctation of aorta (HP:0001680): Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. Evidence: TAS. Frequency: 32/413. (PMID:15690347)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: TAS. Frequency: 42/423. (PMID:15690347;OMIM:241550)
- Non-Mendelian inheritance (HP:0001426): A mode of inheritance that depends on genetic determinants in more than one gene. Evidence: TAS. (PMID:1248182)
- Oligogenic inheritance (HP:0010983): A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform. Evidence: TAS. (PMID:15690347)
- 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: TAS. (PMID:5111754)
These phenotypes are associated with the disease hypoplastic left heart syndrome 1 (OMIM:241550).