Phenotypes associated with the disease oocyte maturation defect 9 (OMIM:619011):
- Metaphase I oocyte maturation arrest (HP:0031516): Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. Evidence: PCS. Frequency: 3/4. (PMID:32473092)
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 5/5. (PMID:32473092)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/5. (PMID:32473092)
- Abnormality of the menstrual cycle (HP:0000140): An abnormality of the ovulation cycle. Evidence: PCS. Frequency: 0/5. (PMID:32473092)
- 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:32473092)
- Zygotic cleavage failure (HP:0033336): Failure of a fertilized oocyte to undergo the first round of cell division. Evidence: PCS. Frequency: 1/4. (PMID:32473092)