Global Variome shared LOVD

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Phenotype #0000294247 Individual ID 00401204 Associated disease EPM Phenotype details birth-jerks; 7y-clumsiness ; 8y-ataxia; 9y-myoclonus; 8y-seizures; scoliosis, syndactyly of hands and toes; barely walks, frequent use wheelchair; CK 182 Diagnosis/Initial progressive myoclonus epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite EPM6 Age/Examination 31y (31 years) 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 2022-01-28 17:16:23 +01:00 (CET) Date last edited N/A

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