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GTR Home > Conditions/Phenotypes > Oocyte maturation defect 4

Oocyte maturation defect 4

Synonyms
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4

Summary

Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest (Chen et al., 2017). [from OMIM]

Available tests

3 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OOMD4, OZEMA4, Pat1a, hPat1a, PATL2
    Summary: PAT1 homolog 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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