- Abnormal circulating estrogen level (HP:0025132): A deviation from normal concentration of the hormone estrogen in the blood circulation. Evidence: PCS. Frequency: 0/4. (PMID:32502391)
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 4/4. (PMID:32502391)
- Abnormality of the menstrual cycle (HP:0000140): An abnormality of the ovulation cycle. Evidence: PCS. Frequency: 0/4. (PMID:32502391)
- 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:32502391)
- Zygotic cleavage failure (HP:0033336): Failure of a fertilized oocyte to undergo the first round of cell division. Evidence: IEA. Frequency: 4/4. (PMID:32502391)
These phenotypes are associated with the disease oocyte maturation defect 8 (OMIM:619009).