ovarian dysgenesis 7
MONDO:0020857Mondo
Findings
No curated finding names ovarian dysgenesis 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
7 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 serum estradiolHPOHP:0008214
- 3 of 4 reported patients
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 3 of 4 reported patients
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 3 of 4 reported patients
- Delayed pubertyHPOHP:0000823
- Delayed skeletal maturationHPOHP:0002750
- Hypoplasia of the uterusHPOHP:0000013
- Primary amenorrheaHPOHP:0000786
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.
- MRPS22HGNC:14508
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: ovarian dysgenesis 7
- Also called
- ODG7