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Start free with EleplanBlepharophimosis-ptosis-epicanthus inversus syndrome type 2
ORPHA:572361Clinical subtype
Also called BPES type 2 · Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Antenatal
- Inheritance
- Autosomal dominant
- Classified as
- Clinical subtype
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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