Phenotypes associated with the disease spermatogenic failure 1 (OMIM:258150):
- Cryptozoospermia (HP:0030974): A type of oligozoospermia in which spermatozoa can be detected in an ejaculate only after centrifugation and inspection of the pellet. Evidence: PCS. Frequency: 2/4. (PMID:31866047)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 4/4. Onset: Young adult onset (HP:0011462). (PMID:31866047)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/4. (PMID:31866047)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: PCS. Frequency: 4/4. (PMID:31866047)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:31866047)