Phenotypes associated with the disease oocyte/zygote/embryo maturation arrest 21 (OMIM:620610, an entry in Online Mendelian Inheritance in Man):
- Female infertility (HP:0008222, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 11/11. (PMID:33948904;PMID:33953335)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 7/7. (PMID:33953335)
- Zygotic cleavage failure (HP:0033336, a Human Phenotype Ontology term): Failure of a fertilized oocyte to undergo the first round of cell division. Evidence: PCS. Frequency: 2/2. (PMID:33948904)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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: PCS. (PMID:33953335)