Metadata | |
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ID | DOID:0070585 |
Name | spermatogenic failure 86 |
Definition | A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3. https://pubmed.ncbi.nlm.nih.gov/32923619/, https://pubmed.ncbi.nlm.nih.gov/34727571/ |
Xrefs | |
SKOS |
exactMatch MIM:620499 |
Synonyms |
SPGF86 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |