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    A novel recurrent mutation in CFAP47 causes male infertility with asthenoteratozoospermia
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    1. ClingenBaseline 21 Oct 2026
      A novel recurrent mutation in CFAP47 causes male infertility with asthenoteratozoospermia

      PMID: N/A (available only on https://www.authorea.com/)

      Gene: CFAP47

      HGNC: 26708

      Disease: X-linked spermatogenic failure 3

      MONDO: MONDO:0025354

      InheritancePattern: autosomal recessive

      Prevalence: The overall prevalence of male infertility is between 1 in 10 and 1 in 50 males.

      Penetrance: Known disease-causing alleles appear to be completely penetrant in hemizygous males.

      General ClinGen Gene:CFAP47 HGNC:26708 inferred_gene_hgnc:26708 inferred_gene_source:hgnc_tag Retina GCEP
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