Phenotypes associated with the disease spermatogenic failure 51 (OMIM:619177, an entry in Online Mendelian Inheritance in Man):
- Irregularly shaped sperm tail (HP:0033393, a Human Phenotype Ontology term): Irregular or changing caliber (diameter) along the tail of the sperm. Evidence: PCS. Frequency: 6/6. (PMID:32161152)
- Coiled sperm flagella (HP:0032560, a Human Phenotype Ontology term): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. Frequency: 6/6. (PMID:32161152)
- Microcephalic sperm head (HP:0032561, a Human Phenotype Ontology term): Decreased size of the head of sperm. Evidence: PCS. Frequency: 6/6. (PMID:32161152)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:32161152)
- Reduced sperm motility (HP:0012207, a Human Phenotype Ontology term): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 6/6. (PMID:32161152)
- Macrozoospermia (HP:0025437, a Human Phenotype Ontology term): Increased size of the head of sperm. Evidence: PCS. Frequency: 6/6. (PMID:32161152)
- Absent sperm axoneme central pair complex (HP:0033525, a Human Phenotype Ontology term): Absence of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. Evidence: PCS. Frequency: 6/6. (PMID:32161152)
- Oligozoospermia (HP:0000798, a Human Phenotype Ontology term): Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. Evidence: PCS. Frequency: 3/6. (PMID:32161152)
- Absent sperm flagella (HP:0032558, a Human Phenotype Ontology term): Sperm cells lacking flagella. Evidence: PCS. Frequency: 6/6. (PMID:32161152)
- Short sperm flagella (HP:0032559, a Human Phenotype Ontology term): Sperm cells with abnormally short flagella. Evidence: PCS. Frequency: 6/6. (PMID:32161152)