premature ovarian failure 12
Findings
No curated finding names premature ovarian failure 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014844), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Macular dystrophyHPOHP:0007754
- MicrophthalmiaHPOHP:0000568
- Primary amenorrheaHPOHP:0000786
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.
- SYCE1HGNC:28852
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: premature ovarian failure 12
- Also called
- POF12premature ovarian failure 12; POF12premature ovarian failure type 12primary ovarian failure caused by mutation in SYCE1SYCE1 primary ovarian failure