Global Variome shared LOVD

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

Phenotype #0000328676 Individual ID 00438778 Associated disease MD Phenotype details severe intellectual disability; CK level 300-1100IU; muscle weakness; movement disorder; 6m-onset seizure; infection-related seizures; focal motor with impaired awareness seizure, focal non-motor with impaired awareness seizure, focal onset to bilateral tonic-clonic seizure; status epilepticus (several status with fever); epilepsy course Brodie class C; EEG normal background, focal sharp waves in right fronto-temporal; MRI brain generalized decrease in cortico-subcortical volume Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR18 Age/Examination 9y-12y 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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