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 InternationalCreative Commons License
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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