- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. (PMID:14632188)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: IEA. Frequency: Occasional (HP:0040283). (OMIM:601606)
- Trichoepithelioma (HP:0025367): A benign hair follicle tumor whose tumor cells form rudimentary hair follicles but not actual hair shafts. A trichoepithelioma is usually less than one centimeter, firm, round, and shihy with yellow, pink, brown, or bluish color. They may occur multiply, usually on the face, and may gradually increase in number with age. Evidence: PCS. Frequency: 13/13. (PMID:14632188)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: IEA. (OMIM:601606)
- Cylindroma (HP:0031024): A benign skin adnexal tumor of eccrine differentiation. Evidence: PCS. Frequency: 1/13. (PMID:14632188)
- 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:14632188)
These phenotypes are associated with the disease trichoepithelioma, multiple familial, 1 (OMIM:601606).