- 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:38105698)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/1. (PMID:34707299)
- Aplasia of the ovary (HP:0010463): Aplasia, that is failure to develop, of the ovary. Evidence: PCS. Frequency: 2/2. (PMID:38105698)
- Elevated circulating luteinizing hormone level (HP:0011969): An elevated concentration of luteinizing hormone in the blood. Evidence: PCS. Frequency: 2/2. (PMID:38105698)
- Elevated circulating follicle stimulating hormone level (HP:0008232): An elevated concentration of follicle-stimulating hormone in the blood. Evidence: PCS. Frequency: 3/3. (PMID:34707299;PMID:38105698)
- Delayed menarche (HP:0012569): First period after the age of 15 years. Evidence: PCS. Frequency: 2/3. (PMID:34707299;PMID:38105698)
- 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:34707299)
- 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: 1/1. (PMID:34707299)
- Decreased serum estradiol (HP:0008214): A reduction below normal concentration of estradiol in the circulation. Evidence: PCS. Frequency: 1/1. (PMID:34707299)
- Decreased circulating antimullerian hormone circulation (HP:0031103): A reduction below the normal range of the antimullerian hormone in the circulation. Evidence: PCS. Frequency: 2/2. (PMID:38105698)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 1/3. (PMID:34707299;PMID:38105698)
These phenotypes are associated with the disease ovarian dysgenesis 11 (OMIM:620897).