ovarian dysgenesis 6
MONDO:0054850Mondo
Findings
No curated finding names ovarian dysgenesis 6 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
4 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.
- Absence of pubertal developmentHPOHP:0008197
- 5 of 5 reported patients · Female
- Hypergonadotropic hypogonadismHPOHP:0000815
- 5 of 5 reported patients · Female
- Hypoplasia of the uterusHPOHP:0000013
- 5 of 5 reported patients · Female
- Primary amenorrheaHPOHP:0000786
- 5 of 5 reported patients · Female
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.
- NUP107HGNC:29914
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of