Phenotype #0000041549

Individual ID	00054888
Associated disease	EPM6
Phenotype details	Ramsay Hunt Syndrome; 3y ataxia, 6y myoclonus, 11y generalized tonic clonic seizures, 6y areflexia (not tested earlier), no skeletal abnormaliatie;, EEG generalized epileptic discharges, photoconvulsive response; EMG findings indicating sensory neuronopathy, findings indicating anterior horn cell involvement; CK normal; 19y ambulant; 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
Created by	Johan den Dunnen
Date created	2015-12-01 05:01:25 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD