Global Variome shared LOVD

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Phenotype #0000295639 Individual ID 00402878 Associated disease OPDM Diagnosis/Initial oculopharyngodistal myopathy Diagnosis/Definite OPDM Phenotype details see paper; ..., 27y-ptosis; 42y-poor eye movement, nasal voice, muscle weakness facial muscles and distal limbs, no sensory impairment, EMG myogenic changes Inheritance Familial, autosomal dominant Age/Examination 42y (42 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 16:42:17 +01:00 (CET) Date last edited N/A

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