Phenotype #0000328682

Individual ID 00438784
Associated disease MD
Phenotype details moderate intellectual disability; CK level 800-3000IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 6m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure; status epilepticus (febrile status epilepticus); epilepsy course Brodie class A; EEG normal background, multifocal spike-waves, mainly frontal, no photosensitivity; MRI brain generalized decrease in cortico-subcortical volume
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 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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