- Female infertility (HP:0008222). Evidence: PCS. Frequency: 4/4. (PMID:37148315)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/4. (PMID:37148315)
- Embryo developmental arrest (HP:0020003): A failure of an embryo to progress through the early stages of preimplantation development (typically from fertilization, i.e., 1-cell zygote, to blastocyst on day 5-6), and is used clinically when embryos fail to reach transferable stages in assisted reproductive technologies (ARTs) such in vitro fertilization (IVF). Arrested embryo development is characterized by downregulation of metabolic activity and cessation of cell division. In order for an embryo to be characterized as non-viable, i.e., arrested, it should present with a lack of cleaving activity and fail to show a sign of mitotic cellular division for at least 24 hours. One can observe failure of a zygote to cleave, cleavage stage arrest either on day 2 or day 3 when the embryo is expected to be between the 2 and 8-cell stage, failure to compact to morula, or failure to form a blastocyst. Evidence: PCS. Frequency: 4/4. (PMID:37148315)
- 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: 3/3. (PMID:37148315)
- 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:37148315)
These phenotypes are associated with the disease oocyte/zygote/embryo maturation arrest 25 (OMIM:621471).