has characteristic has characteristic blepharophimosis, ptosis, and epicanthus inversus syndrome blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome https://github.com/monarch-initiative/mondo/issues/7700 Reason of obsoletion: out of scope - MONDO:excludeHistoricalDisease. Term to consider: - Orphanet:261572 MONDO:0016858 2024-09-01 blepharophimosis types 1 and 2 due to a point mutation Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure. point_mutation