Phenotype #0000252756

Individual ID 00334899
Associated disease EPM
Phenotype details Developmental delay. Late walker and always unstaedy with tremor. Ataxia (approx 2.5y). Drop attacks and absence seizures (4y); TCS (11y); Wheelchair (11y);. Severe generalised and multifocal myoclonus (15y); myoclonic status. Slow cognitive regression from 5y. Severe intellectual disability. No pyramidal signs and head circumference normal. Alive age 37y.
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 09:37:32 +01:00 (CET)
Date last edited 2021-04-14 09:11:45 +02:00 (CEST)

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