Global Variome shared LOVD

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Phenotype #0000284103 Individual ID 00390566 Associated disease MDDG Phenotype details congenital muscular dystrophy, mental retardation; normal motor ability; no contractures; intellectual disability; no seizures; no eye involvement; CK level 3571 IU/L; MRI brain nonspecific white matter changes; IHC reduced DAG; EGC normal; UCG normal Diagnosis/Initial limb-girdle muscular dystrophy 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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