blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
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.
MONDO:0007201
blepharophimosis, ptosis, and epicanthus inversus syndrome
is_a
blepharophimosis types 1 and 2 due to a point mutation
exact