Phenotype #0000328576

Individual ID 00438673
Associated disease DEE
Diagnosis/Initial developmental and epileptic encephalopathy
Diagnosis/Definite MRD55
Phenotype details see paper; ..., motor delay, mild intellectual disability; 2y6m-seizures; EEG generalized spike-wave and poly-spike and wave; MRI brain normal; tremor, dysarthria, seizures controlled on VPA, LTG, and CZP
Inheritance Isolated (sporadic)
Age/Examination 20y (20 years)
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 2023-10-21 19:20:17 +02:00 (CEST)
Date last edited 2023-10-23 15:30:53 +02:00 (CEST)

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