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premature ovarian failure 24 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature ovarian failure 24

MONDO:0970995

Overview

GeneticsAutosomal recessive · SYCP2L (chr 6)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Female infertility, Elevated circulating follicle stimulating hormone level, and Decreased circulating antimullerian hormone circulation; and common findings: Reduced antral follicle count, Secondary amenorrhea, Elevated circulating luteinizing hormone level, and Oligomenorrhea and others.

Organ System	Phenotype Count	Example Features
Hormones	2	Secondary amenorrhea, Female infertility

Genetic Landscape

SYCP2L function has not been fully characterized.

Premature ovarian failure 24 is associated with mutations in the SYCP2L gene on chromosome 6.

Diagnosis

Genetic testing for SYCP2L is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for premature ovarian failure 24 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 5 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for premature ovarian failure 24.

61 publications have been identified in PubMed for premature ovarian failure 24. Research spans Epidemiology / Natural History (36%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (13%).

Research Type	Count	% of Total
Disease patterns and progression	22	36%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620840

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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premature ovarian failure 24

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

premature ovarian failure 24

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications