Global Variome shared LOVD

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Phenotype #0000292493 Individual ID 00399382 Associated disease EPM Phenotype details see paper; ..., 3y-ataxia; 5y-myoclonus; 21y-generalized tonic clonic seizures; 7y-absence; drop attacks during fever; 2y-atypical absence; scoliosis, pes cavus; highest CK 2360 IU; 10y-wheelchair bound; 24y-dysphagia; 26y-PEG, respirator dependent Diagnosis/Initial progressive myoclonus epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite EPM6 Age/Examination 29y (29 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 12:54:43 +01:00 (CET)

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