Phenotype #0000079005

Individual ID 00100791
Associated disease EE
Phenotype details see paper; born at term; normal development until 5m when developed seizures, developmental regression, MRI brain revealed progressive volume loss, demyelination; 14m-global developmental delay, hypotonia, status epilepticus; 5y-died from severe status epilepticus with respiratory failure; ...
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-03-10 12:31:34 +01:00 (CET)
Date last edited 2017-03-10 12:39:26 +01:00 (CET)

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