Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000328687 Individual ID 00438789 Associated disease MD Phenotype details severe intellectual disability; CK level 820-1500IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 4m-onset seizure; infection-related seizures; generalized onset myoclonic seizure, focal motor with impaired awareness seizure; no status epilepticus; epilepsy course Brodie class C; EEG focal discharges (left centro-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 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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