eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | blepharophimosis, ptosis, and epicanthus inversus |
| Comorbidity | C0002418|amblyopia |
| Sentences | 1 |
| PubMedID- 22312189 | Unlike previous studies, affected members of the family studied here showed a severe bpes phenotype, with bilateral amblyopia due to uncorrected ptosis. |
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