- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: IEA. (OMIM:617875)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. Frequency: 14/25. Onset: Adult onset (HP:0003581). (PMID:24706814)
- Hepatic cysts (HP:0001407). Evidence: PCS. Frequency: 19/25. Onset: Adult onset (HP:0003581). (PMID:24706814)
- 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:24706814)
These phenotypes are associated with the disease polycystic liver disease 4 with or without kidney cysts (OMIM:617875).