Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

MONDO:0016858

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.

Also known as: blepharophimosis types 1 and 2 due to a point mutation

5 clinical trials for this condition and its sub-types, 0 tagged with Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome itself.

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↑ Blepharophimosis, ptosis, and epicanthus inversus syndrome (0)

Including sub-types (5) Tagged with Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome (0)

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