Global Variome shared LOVD

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Phenotype #0000328679 Individual ID 00438781 Associated disease MD Phenotype details moderate-severe intellectual disability; CK level 300-500IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 14m-onset seizure; infection-related seizures; focal onset to bilateral tonic-clonic seizure, bilateral tonic-clonic seizure; status epilepticus (febrile status epilepticus); epilepsy course Brodie class B; EEG slow background, multifocal spike-waves, mainly left parieto-occipital and right parieto-temporal; MRI brain generalized decrease in cortico-subcortical volume Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR18 Age/Examination 5y-8y 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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