Phenotype #0000257408

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00334933
Associated disease	PCH6
Phenotype details	Sibling -pair with childhood onset mild progressive ataxia, mild predominantly upper limb action myoclonus, occasional TCS and absence seizures. Childhood onset cognitive impairment diagnosed prior to onset of myoclonus and ataxia. MRI unremarkable.
Diagnosis/Initial	progressive myoclonus epilepsy , dementia
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