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Metadata
ID DOID:0112164
Name spermatogenic failure 46
Definition A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2.
https://pubmed.ncbi.nlm.nih.gov/32619401/, https://pubmed.ncbi.nlm.nih.gov/32681648/
Xrefs

OMIM:619095

Synonyms

SPGF46 [EXACT]

Parent Relationships

is_a spermatogenic failure

is_a autosomal recessive disease

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