Phenotypes associated with the disease spermatogenic failure 97 (OMIM:621057):
- Severe oligozoospermia (HP:0034818): A type of oligozoospermia characterized by a total number of more than 2 but less than 10 million sperm in the ejaculate or a concentration of more than 1 but less than 5 million sperm per milliliter. Evidence: PCS. Frequency: 1/1. (PMID:33332558)
- Low semen volume (HP:6000135): Volume of semen in ejaculate below the lower limit of normal. This finding can be ascertained by semen analysis. Comment: Sperm are produced within the testis, in the process of spermatogenesis, then travel through the male reproductive tract (the seminiferous tubules, epididymis, vas deferens, prostate and urethra). As the sperm travel, seminal fluid is added from the seminal vesicles, prostate, testis and epididymis and periurethral glands. The function of the ejaculate is to transport sperm into the female genital tract and to provide a suitable environment for sperm survival during this transit. Evidence: PCS. Frequency: 0/1. (PMID:33332558)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 1/1. (PMID:33332558)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/1. (PMID:33332558)
- Abnormality of the testis size (HP:0045058): An anomaly of the size of the testicle (the male gonad). Evidence: PCS. Frequency: 0/1. (PMID:33332558)
- Macrozoospermia (HP:0025437): Increased size of the head of sperm. Evidence: PCS. Frequency: 1/1. (PMID:33332558)
- 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:33332558)
- Immotile sperm (HP:0012208): A lack of mobility of ejaculated sperm. Evidence: PCS. Frequency: 1/1. (PMID:33332558)
- Absent sperm flagella (HP:0032558): Sperm cells lacking flagella. Evidence: PCS. Frequency: 1/1. (PMID:33332558)