oocyte/zygote/embryo maturation arrest 16
Findings
No curated finding names oocyte/zygote/embryo maturation arrest 16 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any inherited oocyte maturation defect marked by early embryonic arrest and female infertility due to a varition in the PADI6 gene.
Definition from the Mondo Disease Ontology (MONDO:1010200), 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.
- Preimplantation lethalityHPOHP:0032479
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.
- PADI6HGNC:20449
- Strong · Ambry Genetics · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: oocyte/zygote/embryo maturation arrest 16
- Also called
- PADI6 preimplantation embryonic lethalityPADI6-related oocyte/zygote/embryo maturation arrest 16 and maternal-effect disorderpreimplantation embryonic lethality type 2PREMBL2