- 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: 1/1. (PMID:33508233)
- Intermediate young adult onset (HP:0025709): Onset of disease at an age of greater than or equal to 19 to under 25 years. Evidence: PCS. Frequency: 1/1. (PMID:33508233)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: PCS. Frequency: 1/1. (PMID:33508233)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: PCS. Frequency: 1/1. (PMID:33508233)
- Secondary amenorrhea (HP:0000869). Evidence: PCS. Frequency: 1/1. (PMID:33508233)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. Frequency: 1/1. (PMID:33508233)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 1/1. (PMID:33508233)
- 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:33508233)
- Decreased circulating antimullerian hormone circulation (HP:0031103): A reduction below the normal range of the antimullerian hormone in the circulation. Evidence: PCS. Frequency: 1/1. (PMID:33508233)
- Hypoplasia of the ovary (HP:0008724): Developmental hypoplasia of the ovary. Evidence: PCS. Frequency: 1/1. (PMID:33508233)
These phenotypes are associated with the disease premature ovarian failure 18 (OMIM:619203).