- 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. (OMIM:265150)
- 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: IEA. (OMIM:265150)
- Hypoplastic right ventricle (HP:0010954): Underdevelopment of the right ventricle. Evidence: TAS. (OMIM:265150)
These phenotypes are associated with the disease pulmonary atresia-intact ventricular septum syndrome (OMIM:265150).