Phenotypes associated with the disease premature ovarian failure 3 (OMIM:608996):
- 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. (PMID:19429596)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: TAS. (OMIM:608996)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. (OMIM:608996)
- 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:19429596)