- Iron deficiency anemia (HP:0001891). Evidence: IEA. (OMIM:178550)
- Transient pulmonary infiltrates (HP:0005828). Evidence: IEA. (OMIM:178550)
- Respiratory insufficiency (HP:0002093). Evidence: IEA. (OMIM:178550)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: IEA. (OMIM:178550)
- 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: IEA. (OMIM:178550)
- Recurrent intrapulmonary hemorrhage (HP:0006535): A recurrent hemorrhage occurring within the lung. Evidence: IEA. (OMIM:178550)
- Hemoptysis (HP:0002105): Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. Evidence: IEA. (OMIM:178550)
These phenotypes are associated with the disease pulmonary hemosiderosis (OMIM:178550).