MCM9-related gametogenic failure
MONDO:1060226
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.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.