Global Variome shared LOVD

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Phenotype #0000357765 Individual ID 00472970 Associated disease MDC Phenotype details Hypotonia since birth; Developmental Delay; Mental retardation, moderate to severe; Seizures; Generalized muscle weakness; Muscle atrophy; Decreased muscle force; No walking; EMG: myopathy; Muscle biopsy: prominent selective type 2 fibers atrophy; IHC: labeling with all examined antibodies Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite - Inheritance Unknown Age/Examination 8y (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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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