X-linked spermatogenic failure 3

Term ID

DOID:0112274

Synonyms

• SPGFX3

Definition

A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. https://pubmed.ncbi.nlm.nih.gov/33472045/

References

• OMIM:301059

Ontology

Human Disease   ( DOID:0112274 )