Global Variome shared LOVD

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Phenotype #0000292039 Individual ID 00398950 Associated disease MYOP Diagnosis/Initial congenital myopathy Diagnosis/Definite - Phenotype details hypotonia, weakness; 2y-walk; ptosis; ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; 8y-nocturnal noninvasive ventilation; scoliosis (no surgery); 14y-no cardiac involvement Inheritance Familial, autosomal dominant Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset <1y Phenotype/Onset hypotonia, weakness Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-01-14 16:20:15 +01:00 (CET) Date last edited N/A

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