Global Variome shared LOVD

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Phenotype #0000352766 Individual ID 00467559 Associated disease MD Phenotype details see paper; hyperlordosis, gait disturbance; no delayed walking, proximal weakness, waddling gait, Gowers’ Sign, calf muscle hypertrophy, intellectual disability; EMG myogenic pattern Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset 05y Phenotype/Onset hyperlordosis, gait disturbance Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-21 19:09:14 +02:00 (CEST) Date last edited N/A

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