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

MONDO:0016857

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.

5 clinical trials for this condition and its sub-types, 0 tagged with Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome itself.

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↑ Partial deletion of the long arm of chromosome 3 (1) ↑ Blepharophimosis, ptosis, and epicanthus inversus syndrome (0)

Including sub-types (5) Tagged with Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome (0)

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