Global Variome shared LOVD

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Phenotype #0000284148 Individual ID 00390611 Associated disease MDDG Phenotype details congenital muscular dystrophy, no mental retardation; 11m-turn over; no contractures; no intellectual disability; no seizures; no eye involvement; CK level 4231-7100 IU/L; MRI brain normal; EGC normal; UCG normal Diagnosis/Initial muscle-eye-brain disease Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 11m Age/Diagnosis - Age/Onset 3m 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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