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A reference for what the literature reports. Not medical advice.

Disease

blepharophimosis-epicanthus inversus-ptosis due to copy number variations

MONDO:0016859Mondo

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Findings

No curated finding names blepharophimosis-epicanthus inversus-ptosis due to copy number variations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

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.

Definition from the Mondo Disease Ontology (MONDO:0016859), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: blepharophimosis, ptosis, and epicanthus inversus syndrome

Other names

2 names

Resolves to: blepharophimosis-epicanthus inversus-ptosis due to copy number variations

Also called: blepharophimosis types 1 and 2 due to copy number variationsblepharophimosis-epicanthus inversus-ptosis due to a CNV