gonadal dysgenesis
MONDO:0001967Mondo
Findings
No curated finding names gonadal dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
Definition from the Mondo Disease Ontology (MONDO:0001967), 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.
- SMC1BHGNC:11112
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- A kind of