- Hydatidiform mole (HP:0032192, a Human Phenotype Ontology term): Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast. Evidence: PCS. Frequency: 5/5. (PMID:16462743)
- Miscarriage (HP:0005268, a Human Phenotype Ontology term): A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 22th week of pregnancy. Evidence: PCS. Frequency: 2/5. (PMID:16462743)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/5. (PMID:16462743)
- Autosomal recessive inheritance (HP:0000007, 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:16462743)
- History of stillbirth (HP:0032468, a Human Phenotype Ontology term): One or more previous pregnancies resulted in stillbirth, defined as death of a fetus in the later stages of pregnancy (definitions in the literature vary, with cut-offs ranging from 20 to 28 weeks gestation). Evidence: PCS. Frequency: 2/5. (PMID:16462743)
These phenotypes are associated with the disease hydatidiform mole, recurrent, 1 (OMIM:231090, an entry in Online Mendelian Inheritance in Man).