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Spermatogenic failure 64

Summary

Spermatogenic failure-64 (SPGF64) is characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia. Some patients have absent sperm due to meiotic arrest at the diplotene stage, whereas others show low sperm counts and reduced progressive motility, and spermatozoa have enlarged amorphous heads (Ma et al., 2019; Wu et al., 2022). Mutation in the FBXO43 gene can also cause female infertility due to early embryonic arrest (see OOMD12, 619697). For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [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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