- Multiflagellar spermatozoa (HP:0034309): Spermatozoa with multiple flagella attached to the sperm head. Evidence: PCS. Frequency: 2/2. (PMID:21733974)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 16/16. (PMID:17435757)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/2. (PMID:17435757)
- 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:17435757)
- Macrozoospermia (HP:0025437): Increased size of the head of sperm. Evidence: PCS. Frequency: 2/2. (PMID:17435757)
These phenotypes are associated with the disease spermatogenic failure 5 (OMIM:243060).