Global Variome shared LOVD

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Phenotype #0000125134 Individual ID 00102188 Associated disease MDC Phenotype details EEG pathological, MRI brain classic abnormalities white matter changes, EMG myogenic potentials; 6.9y-epileptic seizures, psychomotor arrest, hallucinations, focal cortical dysplasia; CPK: 643-1173 mU/mL; no mental retardation; w3.8y 10 m Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset severe hypotonia, marked proximal weakness, ankle contractures, absent tendon reflexes Protein IHC no LAMA2 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-10-08 08:33:43 +02:00 (CEST) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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