- Decreased total leukocyte count (HP:0001882): An abnormal decreased number of leukocytes in the blood. Evidence: PCS. Frequency: 1/5. (PMID:32139460)
- Leukemia (HP:0001909): A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. Evidence: PCS. Frequency: 2/7. (PMID:32139460)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 4/4. (PMID:32139460)
- Pulmonary fibrosis (HP:0002206): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: PCS. Frequency: 3/5. (PMID:32139460)
- Short telomere length (HP:0031413): An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. Evidence: PCS. Frequency: 5/5. (PMID:32139460)
- 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:32139460)
These phenotypes are associated with the disease pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 (OMIM:620400).