" /> Blepharophimosis, ptosis, and epicanthus inversus - CISMeF





Preferred Label : Blepharophimosis, ptosis, and epicanthus inversus;

Symbol : BPES;

CISMeF acronym : BPES;

Type : Phenotype, molecular basis known;

Included titles and symbols : Bpes, type I; Bpes with ovarian failure; Bpes, type II; Bpes without ovarian failure; Bpes with duane retraction syndrome;

Inheritance : Autosomal dominant; Autosomal recessive (less common);

Molecular basis : Caused by mutation in the forkhead transcription factor FOXL2 gene (FOXL2, 605597.0001);

Prefixed ID : #110100;

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04/05/2025


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