Visualize Submit Comment
Metadata
ID DOID:0112279
Name spermatogenic failure 53
Definition A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2.
https://pubmed.ncbi.nlm.nih.gov/33626338/
Xrefs

MIM:619258

Synonyms

SPGF53 [EXACT]

Parent Relationships

is_a spermatogenic failure

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker