Phenotypes associated with the disease oocyte/zygote/embryo maturation arrest 22 (OMIM:621093):
- 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:37052235;PMID:38177974)
- 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: 5/5. (PMID:37052235;PMID:37723834)
- 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: 2/3. (PMID:38177974)
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 10/10. (PMID:37052235;PMID:37723834;PMID:38177974)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 8/10. (PMID:37052235;PMID:37723834;PMID:38177974)
- 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:37052235)
- 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: 8/8. (PMID:37052235;PMID:37723834;PMID:38177974)