Phenotype #0000292489

Individual ID 00399378
Associated disease EPM
Phenotype details see paper ..., progressive myoclonus epilepsy; 2y-mild gait ataxia, transient episodes omotor deterioration triggered by infection and fever; 14y-generalized action myoclonus, epilepsy; heterozygous carrier brother suffers from typical cervical dystonia
Diagnosis/Initial progressive myoclonus epilepsy
Inheritance Familial, autosomal recessive
Diagnosis/Definite EPM6
Age/Examination 61y (61 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-01-20 11:46:44 +01:00 (CET)
Date last edited N/A

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