- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 2/6. (PMID:39872894;PMID:37024973)
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 7/7. (PMID:39872894;PMID:37024973;PMID:39209701)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/7. (PMID:39872894;PMID:37024973;PMID:39209701)
- Zygotic cleavage failure (HP:0033336): Failure of a fertilized oocyte to undergo the first round of cell division. Evidence: PCS. Frequency: 4/5. (PMID:39872894;PMID:37024973;PMID:39209701)
- 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: 7/7. (PMID:39872894;PMID:37024973;PMID:39209701)
- 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:37024973)
These phenotypes are associated with the disease oocyte/zygote/embryo maturation arrest 23 (OMIM:621231).