Global Variome shared LOVD

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Phenotype #0000284036 Individual ID 00390499 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy, mental retardation; 1y6m-walk; no contractures; intellectual disability; no seizures; CK level 1935-2287 IU/L; EMG myogenic; UCG-normal Diagnosis/Initial limb-girdle muscular dystrophy, mental retardation Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 2y5m (2 years, 5 months) Age/Diagnosis - Age/Onset 9m Phenotype/Onset hyperCKemia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-11-10 16:44:31 +01:00 (CET) Date last edited N/A

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