Global Variome shared LOVD

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Phenotype #0000325828 Individual ID 00435644 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 10d-apnoeic seizures; focal seizures onset with impaired awareness, focal to bilateral tonic-clonic, epileptic spasms (daily); EEG 2m–23m slow background, multifocal or generalized discharges with burst suppression, focal seizures recorded; MRI brain 2m thin corpus callosum, enlarged extracerebral spaces, diffusely abnormal myelination; global profound developmental delay, quadriparesis with generalized hypotonia, cortical visual impairment, nystagmus, dysphagia (percutaneous endoscopic gastrostomy 16m); macrocytic anemia, transfusion dependent Inheritance Isolated (sporadic) Age/Examination 1y11m (1 year, 11 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-08-07 11:56:16 +02:00 (CEST) Date last edited N/A

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