Global Variome shared LOVD

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Phenotype #0000360152 Individual ID 00475477 Associated disease LGMD Phenotype details Poor feeding, hypotonia, respiratory distress and elevated CK level Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR23 Age/Examination 2m 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 2026-04-10 11:30:23 +02:00 (CEST) Date last edited N/A

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