Global Variome shared LOVD

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Phenotype #0000284027 Individual ID 00390490 Associated disease MDDG Phenotype details congenital muscular dystrophy, no mental retardation; 1y5m-sit; no contractures; no intellectual disability; no seizures; esotropia; CK level 2850 IU/L; MRI brain cerebellar abnormalities with or without brainstem hypoplasia; ECG right bundle branch block Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 3y3m (3 years, 3 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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