Phenotype #0000257423

Individual ID	00334880
Associated disease	EPM1B
Phenotype details	Onset age 13 of frequent action and reflex myoclonus on a background of normal development. Slowly progressive ataxia and mild cognitive dysfunction noted from age 16. Two isolated TCS. Scoliosis. Morbidly obese.
Diagnosis/Initial	Unverricht-Lundborg disease like
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2021-04-14 09:14:49 +02:00 (CEST)
Date last edited	N/A

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Global Variome shared LOVD