Phenotype #0000041551

Individual ID 00054890
Associated disease EPM6
Phenotype details Ramsay Hunt Syndrome; 5y ataxia, 8y myoclonus, 3y clonic seizures, 5y areflexia, scoliosis,; EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK 400-500 (normal <200); 7y/10y muscle histology normal; 12y ambulant; normal cognition
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 3y
Phenotype/Onset febrile seizures
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 05:01:25 +01:00 (CET)
Date last edited N/A

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