- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. (OMIM:219600)
- 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:219600)
- Multiple pulmonary cysts (HP:0005948): The presence of multiple lung cysts. Evidence: TAS. (OMIM:219600)
- Spontaneous neonatal pneumothorax (HP:0004876): Pneumothorax occurring neonatally without traumatic injury to the chest or lung. Evidence: TAS. (OMIM:219600)
These phenotypes are associated with the disease cystic disease of lung (OMIM:219600).