- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:14607454)
- 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: TAS. (OMIM:614435)
- Mitral atresia (HP:0011560): A congenital defect with failure to open of the mitral valve orifice. Evidence: TAS. (OMIM:614435)
- Hypoplastic left ventricle (HP:0004383): A severe congenital heart defect characterized by underdevelopment of the left ventricle. Evidence: PCS. Frequency: 1/1. (PMID:14607454)
- Aortic valve atresia (HP:0010883): A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. Evidence: TAS. (OMIM:614435)
- 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:14607454)
These phenotypes are associated with the disease hypoplastic left heart syndrome 2 (OMIM:614435).