Global Variome shared LOVD

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Phenotype #0000348561 Individual ID 00460882 Associated disease MCLDS Phenotype details see paper; ..., acanthocytosis, muscle fatigue, movement disorder Diagnosis/Initial muscle fatigue, movement disorder Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination 44y (44 years) Age/Diagnosis - Age/Onset 42y 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 2025-01-30 10:12:45 +01:00 (CET) Date last edited N/A

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