oocyte maturation defect 8
MONDO:0033564Mondo
Findings
No curated finding names oocyte maturation defect 8 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
4 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.
- Female infertilityHPOHP:0008222
- 4 of 4 reported patients
- Zygotic cleavage failureHPOHP:0033336
- 4 of 4 reported patients
- Abnormal circulating estrogen levelHPOHP:0025132
- 0 of 4 reported patients
- Abnormality of the menstrual cycleHPOHP:0000140
- 0 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.
- BTG4HGNC:13862
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of