Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000328684 Individual ID 00438786 Associated disease MD Phenotype details severe intellectual disability; CK level 3500IU; no muscle weakness; movement disorder; 7y-onset seizure; bilateral tonic-clonic seizure; no status epilepticus; epilepsy course Brodie class B; EEG slow background, some EEG with multifocal activity, spikes in the right centrotemporal region and left centrotemporal region; MRI brain normal Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR18 Age/Examination 21y-24y 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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