46,XX ovarian dysgenesis-short stature syndrome
MONDO:0014520Mondo
Findings
No curated finding names 46,XX ovarian dysgenesis-short stature syndrome 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
6 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 body weightHPOHP:0004325
- 3 of 3 reported patients
- Decreased serum estradiolHPOHP:0008214
- 3 of 3 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 3 of 3 reported patients
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 3 of 3 reported patients
- Primary amenorrheaHPOHP:0000786
- 5 of 5 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
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.
- MCM9HGNC:21484
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Unknown · 2018