- Male infertility (HP:0003251). Evidence: PCS. Frequency: 2/2. Onset: Adult onset (HP:0003581). (PMID:30042186)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 1/1. (PMID:30489636)
- 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:30042186)
- Decreased testicular size (HP:0008734): Reduced volume of the testicle (the male gonad). Evidence: PCS. Frequency: 2/2. Onset: Juvenile onset (HP:0003621). (PMID:30042186)
- 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: 2/2. (PMID:30042186)
- 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: 3/3. (PMID:30042186;PMID:30489636)
These phenotypes are associated with the disease spermatogenic failure 50 (OMIM:619145).