Phenotypes associated with the disease spermatogenic failure 38 (OMIM:618433):
- Coiled sperm flagella (HP:0032560): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. Frequency: 4/5. (PMID:30686508)
- Male infertility (HP:0003251). Evidence: TAS. (PMID:30686508)
- Tapered sperm head (HP:0032562): Sperm with cigar-shaped heads that gradually dimish in diameter (taper). Evidence: PCS. Frequency: 4/4. (PMID:30686508)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. (PMID:30686508)
- 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:30686508)
- Abnormal axonemal organization of respiratory motile cilia (HP:0012258): Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. Evidence: TAS. (PMID:30686508)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: TAS. (PMID:30686508)
- Absent sperm flagella (HP:0032558): Sperm cells lacking flagella. Evidence: PCS. (PMID:30686508)
- Abnormal sperm head morphology (HP:0012865): A structural abnormality of the sperm head. Evidence: PCS. (PMID:30686508)