eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | blepharophimosis, ptosis, and epicanthus inversus |
| Comorbidity | C0034012|delayed puberty |
| Sentences | 1 |
| PubMedID- 24030029 | Method: we present a 16-year-old adolescent girl with surgically treated blepharophimosis, ptosis, and epicanthus inversus that was associated with delayed puberty and secondary amenorrhea at the age of 15, indicators that suggested that the patient had bpes type i. |
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