Phenotype #0000328543

Individual ID 00438640
Associated disease DEE
Diagnosis/Initial developmental and epileptic encephalopathy
Diagnosis/Definite -
Phenotype details see paper; ..., severe global developmental delay, severe intellectual disability; 11m-seizures; EEG modified hypsarrhythmia; MRI brain increased sub-arachnoid spaces; axial and limb hypotonia, hyporeflexia, scoliosis, hypersalivation
Inheritance Isolated (sporadic)
Age/Examination 14y (14 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 15:54:10 +02:00 (CEST)

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