Global Variome shared LOVD

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Phenotype #0000228541 Individual ID 00301348 Associated disease OPDM Diagnosis/Initial oculopharyngodistal myopathy Diagnosis/Definite OPDM2 Phenotype details see paper; ..., disease duration 24y; ptosis (HP:0000508); external ophthalmoplegia (HP:0000544); bulbar muscle weakness (HP:0001283); facial muscle weakness (HP:0030319); predominant distal limb muscle weakness (HP:0002460); EMG myopathic change; elevated serum Creatine Kinase (HP:0003236) 849 IU/L; rimmed vacuoles (HP:0003805) Inheritance Familial, autosomal dominant Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 14y Phenotype/Onset weakness in closing eyes Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-15 09:40:23 +02:00 (CEST) Date last edited 2020-09-14 08:53:25 +02:00 (CEST)

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