Phenotype #0000338710

Individual ID 00449535
Associated disease DEE
Diagnosis/Initial developmental and epileptic encephalopathy
Diagnosis/Definite -
Phenotype details plasma glutamine normal; cerebrospinal fluid glutamine normal; 8m-epilepsy, generalized tonic-clonic seizure; epilepsy type generalized; developmental and epileptic encephalopathy; EEG encephalopathic; treatment response refractory; global developmental delay; MRI demyelination/hypomyelination
Inheritance Unknown
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2024-04-19 18:53:48 +02:00 (CEST)
Date last edited N/A

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