Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000228542 Individual ID 00301349 Associated disease OPDM Diagnosis/Initial oculopharyngodistal myopathy Diagnosis/Definite OPDM2 Phenotype details disease duration 5y; 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) 277 IU/L; rimmed vacuoles (HP:0003805) Inheritance Familial, autosomal dominant Age/Examination 36y (36 years) Age/Diagnosis - Age/Onset 31y Phenotype/Onset weakness in bilateral legs 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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