MCM9-related gametogenic failure
Findings
No curated finding names MCM9-related gametogenic failure yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disorder of sexual differentiation caused by biallelic variation in the MCM9 gene. Affected females (46,XX) may present with primary ovarian insufficiency or ovarian dysgenesis with short stature; affected males (46,XY) may present with non-obstructive azoospermia due to meiotic failure. Biallelic MCM9 variants have also been associated with predisposition to early-onset colorectal cancer, polyposis, gastric cancer, and germ cell tumors.
Definition from the Mondo Disease Ontology (MONDO:1060226), read 2026-09-29. CC BY 4.0.
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
- Definitive · ClinGen · Autosomal recessive · 2026
Where it sits
- Narrower terms (1)