Phenotype #0000252755

Individual ID 00334902
Associated disease EPM
Phenotype details Developmental delay. Walked independently at 2y; unsteady wide gait noted at 2.5y. Generalized epileptiform discharges recorded at 2.5yr. First TCS at 5y during illness. Recurrent convulsions some with a focal component. Resting and action myoclonus noted at 10y. Tremor. Increasing difficultly with gait from 11y; wheelchair by 14y. Dysarthria noted at 16y. Moderate intellectual disability; no definitive cognitive decline. No pyramidal signs and head circumference on 50th centile. Alive at 39y.
Diagnosis/Initial progressive myoclonus epilepsy , developmental delay
Inheritance Isolated (sporadic)
Diagnosis/Definite EPM11
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Carolina Courage
Database submission license No license selected
Created by Johan den Dunnen
Date created 2021-03-03 09:35:55 +01:00 (CET)
Date last edited 2021-04-14 09:11:45 +02:00 (CEST)

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