- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: PCS. Frequency: 5/17. (PMID:21416598;PMID:15042511)
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: PCS. Frequency: 3/5. (PMID:21416598)
- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: PCS. Frequency: 1/5. Onset: Middle age onset (HP:0003596). (PMID:21416598)
- Colon cancer (HP:0003003). Evidence: PCS. Frequency: 1/5. Onset: Middle age onset (HP:0003596). (PMID:21416598)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 1/5. (PMID:21416598)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 3/5. (PMID:21416598)
- Short eyelashes (HP:0010764): Decreased length of the eyelashes (subjective). Evidence: PCS. Frequency: 1/5. (PMID:21416598)
- 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:15042511)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 15/15. (PMID:21416598;PMID:15042511)
- Fundic gland polyposis (HP:0033769): Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps. Evidence: PCS. Frequency: 1/5. (PMID:21416598)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: PCS. Frequency: 1/5. (PMID:21416598)
These phenotypes are associated with the disease oligodontia-cancer predisposition syndrome (OMIM:608615).