Global Variome shared LOVD

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Phenotype #0000295637 Individual ID 00402876 Associated disease OPDM Diagnosis/Initial oculopharyngodistal myopathy Diagnosis/Definite OPDM Phenotype details see paper; ..., bilateral ptosis, limitation eye movement, 26y-diplopia, gradually developed facial muscle weakness, anasal voice, difficulty speaking and swallowing, symmetrical weakness four distal limbs Inheritance Familial, autosomal dominant Age/Examination 43y (43 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-13 14:04:48 +01:00 (CET) Date last edited N/A

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