Global Variome shared LOVD

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Phenotype #0000328691 Individual ID 00438793 Associated disease MD Phenotype details severe intellectual disability; CK level 1660IU; no muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 13m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure; status epilepticus; epilepsy course Brodie class A; EEG slow background activity, epileptic abnormalities not detected; 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 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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