Global Variome shared LOVD

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Phenotype #0000351838 Individual ID 00466475 Associated disease NMD Diagnosis/Initial neuromuscular disorder Diagnosis/Definite MPXPS Phenotype details see paper; ..., neck flaccidity, persistent proximal weakness, developmental dela; 22m-walk, speach two word; left esotropia, elevated CK level (3486 U/L), difficulty climbing stairs, migraines with aura, ADHD, social skills deficits Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-09-08 13:09:59 +02:00 (CEST) Date last edited N/A

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