Global Variome shared LOVD

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Phenotype #0000284116 Individual ID 00390579 Associated disease MDDG Phenotype details deceased; congenital muscular dystrophy, no mental retardation; 1y6m-sit; no intellectual disability; no seizures; no eye involvement; CK level 1694-28850 IU/L; MRI brain normal; EMG-myogenic, neurogenic; IHC reduced DAG; ECG sinoatrial block Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 12y1m (12 years, 1 month) Age/Diagnosis - Age/Onset 1d 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 2021-11-10 16:44:31 +01:00 (CET) Date last edited N/A

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