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| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Adrenal Hyperplasia (11?-OH Def.) | Bilateral cryptorchidism | Autosomal Recessive | 8q24.3 | CYP11B1 | 0/Nour & Pacaud, 2015 |