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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.
Data assembled from 2 of 12 sources · Last updated Sep 21, 2026, 4:55 AM UTC
European rare disease database