Global Variome shared LOVD

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Phenotype #0000357734 Individual ID 00472939 Associated disease MYOP Diagnosis/Initial congenital myopathy Diagnosis/Definite - Phenotype details Sporadic case, started childhood with proximal and distal upper and lower muscle weakness, facial muscle weakness, myopia, foot drop, gait abnormality, bulbar dysfunction and chronic non irritable myopathy reported in EDX Inheritance Unknown Age/Examination 26y (26 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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