- Squamous cell carcinoma of the tongue (HP:0030413): A carcinoma derived from a squamous epithelial cell of the tongue. Evidence: PCS. Frequency: 1/4. (PMID:32300648)
- Persistence of hemoglobin F (HP:0011904): Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. Evidence: PCS. Frequency: 2/4. (PMID:32300648)
- 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. (PMID:32300648)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 1/4. (PMID:32300648)
- Chronic fatigue (HP:0012432): Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. Evidence: PCS. Frequency: 2/4. (PMID:32300648)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. (PMID:32300648)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 1/4. (PMID:32300648)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. (PMID:32300648)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 1/4. (PMID:32300648)
- Increased mean corpuscular volume (HP:0005518): Larger than normal size of erythrocytes. Evidence: PCS. Frequency: 2/4. (PMID:32300648)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. Frequency: 3/3. (PMID:32300648)
- 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:32300648)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: PCS. (PMID:32300648)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 2/4. (PMID:32300648)
These phenotypes are associated with the disease bone marrow failure syndrome 6 (OMIM:618849).