Global Variome shared LOVD

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Phenotype #0000328675 Individual ID 00438777 Associated disease MD Phenotype details severe intellectual disability; CK level 300-600IU; muscle weakness; no movement disorder; 6m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure, generalized onset tonic seizures; no status epilepticus; epilepsy course Brodie class A; EEG normal background, ultifocal spikes, sharp, slow and spike-waves, mainly left centro-parieto-temporal; MRI brain normal Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR18 Age/Examination 13y-16y 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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