blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
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.
MONDO:0007201
blepharophimosis, ptosis, and epicanthus inversus syndrome
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MONDO:0016902
partial deletion of the long arm of chromosome 3
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