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.
Comprehensive, easy-to-understand information about this condition
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blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
MONDO:0016857
blepharophimosis-epicanthus inversus-ptosis due to copy number variations
MONDO:0016859
blepharophimosis-ptosis-epicanthus inversus syndrome type 1
MONDO:0035524
blepharophimosis-ptosis-epicanthus inversus syndrome type 2
MONDO:0035525