Phenotype #0000328654

Individual ID 00438756
Associated disease DEE
Diagnosis/Initial developmental and epileptic encephalopathy
Diagnosis/Definite DEDSM
Phenotype details see paper; ..., severe global developmental delay, severe intellectual disability; 4y-seizures; EEG epileptiform; MRI brain normal, Chiari I malformation; hypotonia, tremor, ataxia, inattention, obesity, seizures controlled with OXBZ
Inheritance Isolated (sporadic)
Age/Examination 05y06m (5 years, 6 months)
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 2023-10-23 15:08:29 +02:00 (CEST)
Date last edited N/A

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