Phenotypes associated with the disease spermatogenic failure 9 (OMIM:613958):
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 7/7. (PMID:21397063)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 7/7. (PMID:21397063)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:21397063)
- Globozoospermia (HP:0012205): Any structural anomaly of the acrosome resulting in a round sperm head. Evidence: PCS. Frequency: 7/7. (PMID:21397063)