Phenotypes associated with the disease premature ovarian failure 21 (OMIM:620311):
- Secondary amenorrhea (HP:0000869). Evidence: PCS. Frequency: 10/15. (PMID:36856110;PMID:35801529)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 15/15. (PMID:36856110;PMID:35801529)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 11/11. (PMID:36856110)
- Precocious puberty in females (HP:0010465): The onset of puberty before the age of 8 years in girls. Evidence: PCS. Frequency: 1/4. (PMID:35801529)
- Streak ovary (HP:0010464): A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. Evidence: PCS. Frequency: 3/4. (PMID:35801529)
- Decreased serum estradiol (HP:0008214): A reduction below normal concentration of estradiol in the circulation. Evidence: PCS. Frequency: 11/11. (PMID:36856110)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:30924587)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 7/17. (PMID:36856110;PMID:30924587;PMID:35801529)