spermatogenic failure 27

Term ID

DOID:0111928

Synonyms

• SPGF27

Definition

A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. https://pubmed.ncbi.nlm.nih.gov/29365104/

References

• OMIM:617965

Ontology

Human Disease   ( DOID:0111928 )