Phenotypes associated with the disease oocyte maturation defect 2 (OMIM:616780):
- 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: 20/20. (PMID:26789871;OMIM:616780)
- Female infertility (HP:0008222). Evidence: PCS. (PMID:27273344)
- 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: TAS. (OMIM:616780)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:616780)