| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Multiple morphological abnormalities of the sperm flagella, MMAF (NPHP4) | Nephronophthisis 4, Asthenozoospermia | Autosomal Recessive | 1p36.31 | Substitution | NPHP4 | c.1490C>G | p.P497R | Missense | Ali et al, 2023/2023 |
