Phenotype #0000317217

Individual ID 00426053
Associated disease DEE
Diagnosis/Initial developmental and epileptic encephalopathy
Diagnosis/Definite -
Phenotype details 2m-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus, pupils nonreactive; EEG history hypsarrhythmia, multifocal discharges; MRI brain 6m-normal
Inheritance Isolated (sporadic)
Age/Examination 2y (2 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 2022-11-27 10:28:01 +01:00 (CET)
Date last edited N/A

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