Diseases of the genitourinary system
Diseases of male genital organs
12q24.31
Spermatogenic failure-33 is characterized by multiple morphologic abnormalities of the flagella (MMAF), resulting in immotile spermatozoa and infertility. Short and irregular-caliber flagella are primarily observed, as well as absent and coiled flagella, and abnormalities of the acrosome, head, and base are also present. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618152.1.1 | Lebanon | Male | Yes | Yes | Reduced sperm motility Reduced sperm motility  | NM_144668.6:c.123del | Homozygous | Autosomal, Recessive | Auguste et al. 2018 | Has four other affec... |
| 618152.1.2 | Lebanon | Male | Yes | Yes | Reduced sperm motility Reduced sperm motility | NM_144668.6:c.123del | Homozygous | Autosomal, Recessive | Auguste et al. 2018 | Sibling of 618152.1.... |