Phenotype #0000257411

Individual ID 00334904
Associated disease EPM6
Phenotype details Onset age 14 of ataxia. Severe myoclonus from age 32, TCS, moderate dementia. Dysphagia and pyramidal signs noted. Psychiatric co-morbidities. Severe cerebral, moderate cerebellar atrophy. EEG: photoparoxysmal response.
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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