- Hydatidiform mole (HP:0032192): 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: 2/2. (PMID:30388401)
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 2/2. (PMID:30388401)
- Autosomal recessive inheritance (HP:0000007): 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:30388401)
- Recurrent spontaneous abortion (HP:0200067): Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. Evidence: PCS. (PMID:30388401)
These phenotypes are associated with the disease hydatidiform mole, recurrent, 4 (OMIM:618432).