Phenotype #0000041546

Individual ID 00054885
Associated disease EPM6
Phenotype details 6y myoclonus; 21y tonic-clonic seizures; 6y areflexia; 14y wheelchair; normal cognition; scoliosis; EEG generalized discharges photosensitive; CK 300–668 (normal <170)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 2y6m
Phenotype/Onset ataxia
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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