| 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 | |
| Synonyms |
SPGF53 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |