eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | blepharophimosis, ptosis, and epicanthus inversus |
| Comorbidity | C0020619|hypogonadism |
| Sentences | 1 |
| PubMedID- 19969293 | Result(s): the patient with hypergonadotropic hypogonadism was diagnosed with bpes due to a new foxl2 gene mutation. |
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