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Reference

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

Disease

blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

MONDO:0016857Mondo

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Findings

No curated finding names blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome 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 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay.

Definition from the Mondo Disease Ontology (MONDO:0016857), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: blepharophimosis, ptosis, and epicanthus inversus syndrome
partial deletion of the long arm of chromosome 3