- Female infertility (HP:0008222). Evidence: PCS. Frequency: 10/10. (PMID:36647821)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 10/10. (PMID:36647821)
- Amenorrhea (HP:0000141): Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. Evidence: PCS. Frequency: 0/10. (PMID:36647821)
- 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:36647821)
These phenotypes are associated with the disease oocyte/zygote/embryo maturation arrest 17 (OMIM:620319).