disease arises from structure disease arises from alteration in structure 3q23 (Human) blepharophimosis, ptosis, and epicanthus inversus syndrome blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/7700 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. Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - MONDO:0016857 Orphanet:261559 2024-09-01 partial deletion of the long arm of chromosome 3