- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. (OMIM:265430)
- 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:265430)
- Neonatal death (HP:0003811): Death within the first 28 days of life. Evidence: IEA. (OMIM:265430)
These phenotypes are associated with the disease familial primary pulmonary hypoplasia (OMIM:265430).