Phenotypes associated with the disease oocyte maturation defect 12 (OMIM:619697):
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 4/4. (PMID:34052850)
- 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:34052850)
- Abnormal preimplantation embryonic development (HP:0033335): An anomaly in the development of the embryo in a stage prior to implantation. Evidence: PCS. Frequency: 4/4. (PMID:34052850)