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GTR Home > Conditions/Phenotypes > Spermatogenic failure 79

Spermatogenic failure 79

Summary

Spermatogenic failure-79 (SPGF79) is characterized by male infertility due to an abnormal acrosome reaction and impaired membrane potential after capacitation. Some patients exhibit asthenoteratozoospermia, with defective acrosome formation and mitochondrial sheath assembly, and reduced progressive motility (Lv et al., 2022; Liu et al., 2022). 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: KCNMC1, KCa5, KCa5.1, Kcnma3, SPGF79, Slo3, KCNU1
    Summary: potassium calcium-activated channel subfamily U member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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