eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hypospadias |
| Comorbidity | C1565489|renal insufficiency |
| Sentences | 1 |
| PubMedID- 22968487 | Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel p450 side-change cleavage enzyme (cyp11a1) mutations (p.r360w; p.r405x). |
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