- Lack of oocyte pronucleus formation (HP:0034719, a Human Phenotype Ontology term): An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination. Evidence: PCS. Frequency: 4/4. (PMID:29606300)
- Female infertility (HP:0008222, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 4/4. (PMID:29606300)
- 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: 4/4. (PMID:29606300)
- Autosomal recessive inheritance (HP:0000007, 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 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:29606300)
These phenotypes are associated with the disease oocyte maturation defect 5 (OMIM:617996, an entry in Online Mendelian Inheritance in Man).