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

rare

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.

Identifiers
MONDO:0016857 Orphanet:261559
Part of
Blepharophimosis, ptosis, and epicanthus inversus syndromePartial deletion of the long arm of chromosome 3

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