- Typified by somatic mosaicism (HP:0001442, a Human Phenotype Ontology term): Description of conditions in which affected individuals typically display somatic mosaicism, i.e., genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. In many conditions typified by somatic mosaicism, constitutive mutation is lethal and cases are exclusively or predominantly mosaic. Evidence: IEA. (OMIM:194071)
- Nephroblastoma (HP:0002667, a Human Phenotype Ontology term): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: IEA. (OMIM:194071)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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: IEA. (OMIM:194071)
These phenotypes are associated with the disease Wilms tumor 2 (OMIM:194071, an entry in Online Mendelian Inheritance in Man).