Global Variome shared LOVD

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Phenotype #0000328677 Individual ID 00438779 Associated disease MD Phenotype details moderate intellectual disability; CK level 500-1400IU; muscle weakness; movement disorder; 4m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure, focal onset to bilateral tonic-clonic seizure, focal motor with impaired awareness seizure; status epilepticus (febrile status epilepticus); epilepsy course Brodie class C; EEG normal background, ultifocal spike-waves, mainly left parieto-temporal; MRI brain normal Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR18 Age/Examination 17y-20y Age/Diagnosis - Age/Onset - 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 2023-10-24 15:32:51 +02:00 (CEST) Date last edited N/A

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