Phenotype #0000257407

Individual ID 00334913
Associated disease epilepsy
Phenotype details Onset age 6 of frequent absence seizures, occasional TCS and myoclonus on background of developmental delay. Severe, progressive myoclonus, ataxia and cognitive decline from age 15. Abnormal eye movements and mild extrapyramidal signs noted. History of psychosis and autism. EEG: GSW and PPR.
Diagnosis/Initial progressive myoclonus epilepsy , developmental delay
Inheritance Isolated (sporadic)
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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