- 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: 4/9. (PMID:19246354)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: PCS. Frequency: 2/9. (PMID:19246354)
- Gonadal dysgenesis (HP:0000133): Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen. Evidence: PCS. (PMID:31361404)
- Sex-limited expression (HP:0001470): Sex limitation is used to refer to a monogenic trait linked to an autosomal locus in which the phenotypic effects of allelic differences are expressed only in one sex. Evidence: PCS. (PMID:19246354)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. Frequency: 9/9. (PMID:19246354)
- Secondary amenorrhea (HP:0000869). Evidence: PCS. Frequency: 1/9. (PMID:19246354)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 9/9. (PMID:19246354)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: PCS. Frequency: 2/9. (PMID:19246354)
- Absent pubic hair (HP:0002555): Absence of pubic hair. Evidence: PCS. Frequency: 2/9. (PMID:19246354)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 4/9. (PMID:19246354)
These phenotypes are associated with the disease premature ovarian failure 7 (OMIM:612964).