Blepharophimosis-epicanthus inversus-ptosis due to copy number variations

MONDO:0016859

Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement.

Also known as: blepharophimosis types 1 and 2 due to copy number variations, blepharophimosis-epicanthus inversus-ptosis due to a CNV

5 clinical trials for this condition and its sub-types, 0 tagged with Blepharophimosis-epicanthus inversus-ptosis due to copy number variations itself.

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↑ Blepharophimosis, ptosis, and epicanthus inversus syndrome (0)

Including sub-types (5) Tagged with Blepharophimosis-epicanthus inversus-ptosis due to copy number variations (0)

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