Phenotype #0000328629

Individual ID 00438731
Associated disease DEE
Diagnosis/Initial developmental and epileptic encephalopathy
Diagnosis/Definite DEE58
Phenotype details see paper; ..., severe global developmental delay, moderate/severe intellectual disability, autism spectrum disorder; 23m-febrile seizure; 2y6m-seizure; EEG normal, diffuse slowing after seizure; MRI brain delayed myelination, reduced white-matter tracts, ventriculomegaly, thin corpus callosum; swallowing difficulties, 3y-hyperphagia; no seizures for 2 years under CBZ
Inheritance Isolated (sporadic)
Age/Examination 09y (9 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 2023-10-23 12:20:20 +02:00 (CEST)
Date last edited N/A

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