Global Variome shared LOVD

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Phenotype #0000352232 Individual ID 00466868 Associated disease MYOP Phenotype details see paper; ..., difficulty walking, walking tiptoes, difficulty squatting/standing, poor balance, inability to hop on one foot; 6y-attention deficit hyperactivity disorder, learning difficulties Diagnosis/Initial myopathy Inheritance Familial, autosomal recessive Diagnosis/Definite MPXPS Age/Examination 08y (8 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 2025-09-26 12:14:16 +02:00 (CEST) Date last edited N/A

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