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Metadata
ID DOID:0112163
Name spermatogenic failure 45
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/
Xrefs

MIM:619094

Synonyms

SPGF45 [EXACT]

Parent Relationships

is_a spermatogenic failure

is_a autosomal recessive disease

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