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GTR Home > Conditions/Phenotypes > Spermatogenic failure 65

Summary

Spermatogenic failure-65 (SPGF65) is characterized by male infertility due to asthenoteratozoospermia. Progressive sperm motility is severely reduced or absent, and patients exhibit multiple morphologic abnormalities of the flagella (MMAF), including coiled, irregular-caliber, short, and absent flagella. Abnormalities of the flagellar midpiece are also present (Tan et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of SPGF, see SPGF1 (258150). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: C11orf47, CCDC35, DHCD1, DNHD1L, SPGF65, DNHD1
    Summary: dynein heavy chain domain 1

Clinical features

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