- Cortical tubers (HP:0009717): Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. Evidence: TAS. (OMIM:600273)
- Renal angiomyolipoma (HP:0006772): A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. Evidence: TAS. (OMIM:600273)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: TAS. Onset: Infantile onset (HP:0003593). (OMIM:600273)
- 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: TAS. (OMIM:600273)
These phenotypes are associated with the disease autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (OMIM:600273).