Blepharophimosis, ptosis, and epicanthus inversus disease

DIS: 23




Blepharophimosis, ptosis, and epicanthus inversus disease

Definition: Blepharophimosis, ptosis, and epicanthus inversus syndrome, either with premature ovarian failure (BPES type I) or without (BPES type II), is caused by mutations in the FOXL2 gene.


Synonyms:

  • BES
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome

Category: Monogenic disease

Developmental anomalies

Listed in the disease's profile :


There are no developmental anomalies for this disease.

Observed in MDB cases: (graph view)


There are no developmental anomalies for this disease.
Case records

Associated signaling pathways
Associations Gene: FOXL2
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            [name] => Blepharophimosis, ptosis, and epicanthus inversus disease
            [description] => Blepharophimosis, ptosis, and epicanthus inversus syndrome, either with premature ovarian failure (BPES type I) or without (BPES type II), is caused by mutations in the FOXL2 gene.
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Links

Humpath: (empty)

thefetus.net: (empty)

eMedicine: (empty)

OMIM: 110100

Wikipedia: (empty)

DiseaseDB: (empty)