- Miscarriage (HP:0005268): 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: 1/2. (PMID:31704776)
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 2/2. (PMID:31704776)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:31704776)
- 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:31704776)
- Repeated implantation failure (HP:0033712): Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles. Evidence: PCS. Frequency: 2/2. (PMID:31704776)
- Formation of multiple pronuclei during fertilization (HP:4000008): Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. Evidence: PCS. Frequency: 2/2. (PMID:31704776)
These phenotypes are associated with the disease oocyte maturation defect 10 (OMIM:619176).