- Oocyte maturation arrest (HP:0034914): Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes. Evidence: PCS. Frequency: 5/5. (PMID:32666501)
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 5/5. (PMID:32666501)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/5. (PMID:32666501)
- 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:32666501)
These phenotypes are associated with the disease oocyte maturation defect 14 (OMIM:620276).