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X-Linked Spermatogenic Failure 7

Disease ID: disease_node_15184

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DbxrefMIM:301106
SubclassofDOID_0080012, DOID_0111910
Data SourceDOID
SynonymsSPGFX7
Doid LabelX-linked spermatogenic failure 7
Doid DescriptionA spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm concentration and progressive motility, that has_material_basis_in hemizygous mutation in the CT55 gene on chromosome Xq26.3. Only 1 family reported as of 2024-08-21.
Has Material Basis InGENO_0000149
Disease Node Iddisease_node_15184
Doid IdDOID_0070598
LabelX-Linked Spermatogenic Failure 7