ovarian dysgenesis 8
MONDO:0032590Mondo
Findings
No curated finding names ovarian dysgenesis 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Early young adult onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating antimullerian hormone circulationHPOHP:0031103
- 1 of 1 reported patient
- Decreased serum estradiolHPOHP:0008214
- 1 of 1 reported patient
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 1 of 1 reported patient
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 1 of 1 reported patient
- Eunuchoid habitusHPOHP:0003782
- 1 of 1 reported patient
- Hypoplastic labia majoraHPOHP:0000059
- 1 of 1 reported patient
- OsteoporosisHPOHP:0000939
- 1 of 1 reported patient
- Primary amenorrheaHPOHP:0000786
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ESR2HGNC:3468
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of