Phenotype #0000041545

Individual ID 00054884
Associated disease EPM6
Phenotype details 5y fine motor problems; 7y worsening ataxia; 6y absences; 10y myoclonus; 12y tonic-clonic; 14y drop attacks; 7y areflexia; 24y wheelchair; normal cognition until 25y, memory difficulties later; scoliosis, syndactly; EEG generalized spike-wave, posterior emphasis photosensitive; CK 700–900 (normal <170)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset acute ataxia, improved
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 2015-12-01 04:31:33 +01:00 (CET)
Date last edited N/A

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