Global Variome shared LOVD

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Phenotype #0000284147 Individual ID 00390610 Associated disease MDDG Phenotype details limb-girdle muscular dystrophy, mental retardation; 1y6m-walk; contractures ankle; intellectual disability; no seizures; CK level 7645 IU/L; MRI brain nonspecific white matter changes; EMG myogenic Diagnosis/Initial limb-girdle muscular dystrophy, mental retardation Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 2y7m (2 years, 7 months) Age/Diagnosis - Age/Onset 1y6m Phenotype/Onset fall down frequently 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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