spermatogenic failure 45

Term ID

DOID:0112163

Synonyms

• SPGF45

Definition

A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. https://pubmed.ncbi.nlm.nih.gov/30811583/

References

• MIM:619094

Ontology

Human Disease   ( DOID:0112163 )