Global Variome shared LOVD

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Phenotype #0000292494 Individual ID 00399383 Associated disease EPM Phenotype details see paper; ..., 3y6m-ataxia; 4y-myoclonus; 8y-generalized tonic clonic seizures; 5y-absence; scoliosis; highest CK 2467 IU; 10y-wheelchair bound; 25y-dysphagia; 27y-deceased status epilepticus Diagnosis/Initial progressive myoclonus epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite EPM6 Age/Examination 27y (27 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 2022-01-20 12:49:03 +01:00 (CET) Date last edited 2022-01-20 12:56:11 +01:00 (CET)

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