Phenotype #0000333158

Individual ID 00443881
Associated disease DEE
Diagnosis/Initial neonatal developmental and epileptic encephalopathy
Diagnosis/Definite DEE89
Phenotype details see paper; ..., 7d-myoclonic seizure; tonic seizures, epileptic spasms, focal seizures; EEG at onset suppression-burst pattern; occasional seizure; dystonia and hyperkinetic movements; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; joint contractures; no dysmorphic facial features; MRI brain 4m-normal, 13m-mild cerebral atrophy, 6y-mild cerebral atrophy with ventricular dilation
Inheritance Familial, autosomal recessive
Age/Examination 6y11m (6 years, 11 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 2023-12-05 10:17:31 +01:00 (CET)
Date last edited N/A

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