Phenotype #0000257421

Individual ID 00334915
Associated disease SCAR16
Phenotype details Onset 12 years of age with ataxia. Myoclonus and occsional TCS from age 30. Severe action and reflex myoclonus, severe progressive ataxia and slowly progressive dementia. Tetraparesis and bilateral pes cavus noted.
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

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