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COMMON GENES: 1
Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation

FOXL2 FOXL2


COMMON
GENES
FOXL2



Citations in the biomedical literature:


Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
FOXL2
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation



Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation

Synonym(s):
- Blepharophimosis - epicanthus inversus - ptosis due to del(3)(q23)
- Blepharophimosis - epicanthus inversus - ptosis due to monosomy 3q23
- Blepharophimosis types 1 and 2 due to 3q23 microdeletion
- Blepharophimosis types 1 and 2 due to del(3)(q23)
- Blepharophimosis types 1 and 2 due to monosomy 3q23

Synonym(s):
- Blepharophimosis types 1 and 2 due to a point mutation

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
(no data available)

External references:
No OMIM references
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.