Global Variome shared LOVD

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Phenotype #0000352234 Individual ID 00466870 Associated disease MYOP Phenotype details see paper; ..., 2y-flat feet; 3y-occasional retrosternal pain, hyperactivity, poor concentration, normal motor function Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MPXPS Age/Examination 03y04m (3 years, 4 months) 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 2025-09-26 12:14:16 +02:00 (CEST) Date last edited 2025-09-26 12:29:40 +02:00 (CEST)

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