- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:15133510)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. (PMID:15133510)
- Hepatic cysts (HP:0001407). Evidence: PCS. (PMID:15133510)
- 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:15133510)
These phenotypes are associated with the disease polycystic liver disease 2 (OMIM:617004).