Global Variome shared LOVD

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Phenotype #0000294246 Individual ID 00401203 Associated disease EPM Phenotype details slightly delayed development (11m-sit, 16m-walk); 4y-muscle weakness, areflexia, facial diplegia during intercurrent illness (initially presumed to be GBS); 5y-ataxia; 8y-myoclonus; 8y-seizures; scoliosis, pes cavus; barely walks, frequent use wheelchair; CH 83 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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