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Metadata
ID DOID:0070599
Name X-linked spermatogenic failure 8
Definition A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1.
https://pubmed.ncbi.nlm.nih.gov/38573307/, https://pubmed.ncbi.nlm.nih.gov/38013430/
Xrefs

MIM:301119

SKOS

exactMatch MIM:301119

Synonyms

SPGFX8 [EXACT]

Parent Relationships

is_a X-linked monogenic disease

is_a spermatogenic failure

Subclass Logical Relationships

has material basis in some X-linked inheritance

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