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oocyte maturation defect 4 (OOMD4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oocyte maturation defect 4

MONDO:0021575

Also known as:OOMD4

Overview

GeneticsAutosomal recessive · PATL2 (chr 15)

Clinical Presentation

Features include always present findings: Metaphase I oocyte maturation arrest and Female infertility.

Organ System	Phenotype Count	Example Features
Hormones	1	Female infertility

Explore clinical features

Genetic Landscape

PATL2 function has not been fully characterized.

Oocyte maturation defect 4 is associated with mutations in the PATL2 gene on chromosome 15.

Diagnosis

Genetic testing for PATL2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present 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 oocyte maturation defect 4.

54 publications have been identified in PubMed for oocyte maturation defect 4. Research spans Basic Science / Preclinical (83%), Review / Meta-Analysis (9%), and Epidemiology / Natural History (7%).

Research Type	Count	% of Total
Laboratory research	45	83%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617743

GARD

Genetic and Rare Diseases Info Center

GARD:18497

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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oocyte maturation defect 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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