Global Variome shared LOVD

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Phenotype #0000284023 Individual ID 00390486 Associated disease MDDG Phenotype details congenital muscular dystrophy, no mental retardation; 1y-sit; contractures ankle; no intellectual disability; no seizures; no eye involvement; CK level 4706-7761 IU/L; MRI brain normal; EMG myogenic; IHC no DAG; UCG normal Diagnosis/Initial congenital muscular dystrophy, mental retardation Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 6y7m (6 years, 7 months) 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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