Disease & disorder

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.

Outbreak surveillance

Global reported events

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Clinical trials0
Recruiting0
Drug concepts studied0
Synonyms1
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Background context

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

Wikidata Q56013905 ↗
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

Drugs being studied

Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.