oocyte maturation defect 12
MONDO:0030523Mondo
Findings
No curated finding names oocyte maturation defect 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 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.
- Abnormal preimplantation embryonic developmentHPOHP:0033335
- 4 of 4 reported patients
- Female infertilityHPOHP:0008222
- 4 of 4 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.
- FBXO43HGNC:28521
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: oocyte maturation defect 12
- Also called
- OOMD12