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spermatogenic failure 47
Summary
- Synonym
-
- SPGF47
- Definition
- A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1.
- Super Class
- autosomal recessive disease spermatogenic failure
External Links
- Disease Ontology
- DOID:0112175
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q86YF9 | Cilium assembly protein DZIP1 |
