- Breast carcinoma (HP:0003002): The presence of a carcinoma of the breast. Evidence: PCS. (PMID:21177507)
- Dysplastic gangliocytoma of the cerebellum (HP:0500009): It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. Evidence: PCS. (PMID:21177507)
- Hamartoma (HP:0010566): A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. Evidence: PCS. (PMID:21177507)
- Trichilemmoma (HP:0012844): A benign tumor originating from the outer root sheath of the hair follicle. Evidence: PCS. (PMID:21177507)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. (PMID:21177507)
- Renal neoplasm (HP:0009726): The presence of a neoplasm of the kidney. Evidence: PCS. (PMID:21177507)
These phenotypes are associated with the disease Cowden syndrome 4 (OMIM:615107).