Phenotype #0000041548

Individual ID 00054887
Associated disease EPM6
Phenotype details Ramsay Hunt Syndrome; 3y ataxia, 5y myoclonus, 9y tonic seizures, 3y areflexia, scoliosis; EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK normal; 5y muscle histology normal; 19y ambulant; normal cognition
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 2y
Phenotype/Onset gait disorder, clumsiness
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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