Phenotypes associated with the disease premature ovarian failure 23 (OMIM:620686):
- Reduced antral follicle count (HP:0033085): A count of antral follicles that is lower than normal for age. Evidence: PCS. Frequency: 4/4. (PMID:31000419;PMID:35991565)
- Secondary amenorrhea (HP:0000869). Evidence: PCS. Frequency: 1/2. (PMID:31000419;PMID:35991565)
- Female infertility (HP:0008222). Evidence: PCS. Frequency: 5/5. (PMID:34392356;PMID:31000419;PMID:35991565)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/5. (PMID:34392356;PMID:31000419;PMID:35991565)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 4/4. (PMID:31000419;PMID:35991565)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: PCS. Frequency: 3/4. (PMID:31000419;PMID:35991565)
- 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:31000419)
- Decreased circulating antimullerian hormone circulation (HP:0031103): A reduction below the normal range of the antimullerian hormone in the circulation. Evidence: PCS. Frequency: 4/4. (PMID:31000419;PMID:35991565)