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 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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