- Male infertility (HP:0003251). Evidence: PCS. (PMID:7529962)
- 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:7529962)
- Absent vas deferens (HP:0012873): Aplasia (congenital absence) of the vas deferens. Evidence: PCS. (PMID:7529962)
- Azoospermia (HP:0000027): Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet. Evidence: PCS. (PMID:7529962)
These phenotypes are associated with the disease congenital bilateral aplasia of vas deferens from CFTR mutation (OMIM:277180).