Phenotypes associated with the disease spermatogenic failure 30 (OMIM:618110):
- 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: 1/5. (PMID:28536242)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 5/5. (PMID:28536242)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 5/5. (PMID:28536242)
- 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:28536242)
- Spermatogenesis maturation arrest (HP:0031038): Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. Evidence: PCS. Frequency: 3/3. (PMID:28536242)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 2/5. (PMID:28536242)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. Frequency: 4/5. (PMID:28536242)