Phenotypes associated with the disease spermatogenic failure 54 (OMIM:619379):
- 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: 1/4. (PMID:32503832)
- Coiled sperm flagella (HP:0032560): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. Frequency: 2/2. (PMID:32503832)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 4/4. (PMID:32503832)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 4/4. (PMID:32503832)
- Tapered sperm head (HP:0032562): Sperm with cigar-shaped heads that gradually dimish in diameter (taper). Evidence: PCS. Frequency: 2/2. (PMID:32503832)
- 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:32503832)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 4/4. (PMID:32503832)
- Abnormal sperm axoneme morphology (HP:0033524): Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC. Evidence: PCS. Frequency: 2/2. (PMID:32503832)
- Oligozoospermia (HP:0000798): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: PCS. Frequency: 3/4. (PMID:32503832)
- Short sperm flagella (HP:0032559): Sperm cells with abnormally short flagella. Evidence: PCS. Frequency: 2/2. (PMID:32503832)