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Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Blepharophimosis - epicanthus inversus - ptosis due to a point mutation
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
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
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 -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
FOXL2 P58012605597
No signs/symptoms info available.