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Blepharophimosis ptosis and epicanthus inversus (Version: )

Relevant disorders: R43, GT688, TP68
Signed off date: 12 Aug 2026
Panel types: GMS Rare Disease, GMS signed-off
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1 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
FOXL2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A