- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: PCS. Frequency: 3/3. (PMID:32845237)
- Secondary amenorrhea (HP:0000869). Evidence: PCS. Frequency: 3/3. (PMID:32845237)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: PCS. Frequency: 3/3. (PMID:32845237)
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 3/3. (PMID:32845237)
- 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:32845237)
These phenotypes are associated with the disease premature ovarian failure 19 (OMIM:619245).