hydatidiform mole, recurrent, 2
Findings
No curated finding names hydatidiform mole, recurrent, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.
Definition from the Mondo Disease Ontology (MONDO:0013671), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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.
- Hydatidiform moleHPOHP:0032192
- 3 of 3 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.
- KHDC3LHGNC:33699
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: hydatidiform mole, recurrent, 2
- Also called
- complete hydatidiform mole caused by mutation in KHDC3Lhydatidiform Mole, recurrent, type 2KHDC3L complete hydatidiform mole