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GTR Home > Conditions/Phenotypes > Spermatogenic failure 45

Spermatogenic failure 45

Summary

Spermatogenic failure-45 (SPGF45) is characterized by male infertility due to severe teratozoospermia. Sperm in affected men exhibit multiple morphologic abnormalities of the flagella (MMAF), including flagella that are short, absent, coiled, angulated, and/or of irregular caliber; some sperm also show abnormalities of the head. Ultrastructural analysis shows severe disruption of the axonemal complex and mitochondrial sheath (Li et al., 2019). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). [from OMIM]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DNAHC2, DNHD3, SPGF45, DNAH2
    Summary: dynein axonemal heavy chain 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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