Phenotype #0000041550

Individual ID 00054889
Associated disease EPM6
Phenotype details Ramsay Hunt Syndrome; 2y ataxia, 6y myoclonus, 6y generalized tonic clonic seizures, 9y areflexia (not tested earlier), scoliosis, syndactyl;, EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy; CK normal; 8y wheelchair-bound; mild learning difficulties
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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