- 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:27967308;PMID:34697795)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/2. (PMID:27967308)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: PCS. Frequency: 3/3. (PMID:27967308;PMID:34697795)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: PCS. Frequency: 3/3. (PMID:27967308;PMID:34697795)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. Frequency: 3/3. (PMID:27967308;PMID:34697795)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 3/3. (PMID:27967308;PMID:34697795)
- 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:27967308)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: PCS. Frequency: 3/3. (PMID:27967308;PMID:34697795)
- Decreased serum estradiol (HP:0008214): A reduction below normal concentration of estradiol in the circulation. Evidence: PCS. Frequency: 3/3. (PMID:27967308;PMID:34697795)
- Decreased circulating antimullerian hormone circulation (HP:0031103): A reduction below the normal range of the antimullerian hormone in the circulation. Evidence: PCS. Frequency: 3/3. (PMID:27967308;PMID:34697795)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 3/3. (PMID:27967308;PMID:34697795)
- Hypoplasia of the ovary (HP:0008724): Developmental hypoplasia of the ovary. Evidence: PCS. Frequency: 3/3. (PMID:27967308;PMID:34697795)
These phenotypes are associated with the disease ovarian dysgenesis 9 (OMIM:619665).