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GTR Home > Conditions/Phenotypes > Oocyte maturation defect 12

Oocyte maturation defect 12

Synonyms
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12

Summary

Oocyte/zygote/embryo maturation arrest-12 (OZEMA12) is characterized by female infertility due to early embryonic arrest (Wang et al., 2021). Mutation in the FBXO43 gene can also cause male infertility due to spermatogenic failure (see SPGF64, 619696). For a general phenotypic description and discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EMI2, ERP1, FBX43, OOMD12, OZEMA12, SPGF64, FBXO43
    Summary: F-box protein 43

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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