Global Variome shared LOVD

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Phenotype #0000325829 Individual ID 00435645 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 12m scleralicterus; 1d-apnoeic seizures; 14d-stiffening episodes, 9m-epileptic spasms (seizure-free); EEG birth–20m normal background, then hypsarrhythmia, slow background, focal discharges; MRI brain 1 week, 5m, 11m thin corpus callosum, widespread white matter abnormalities, enlarged dysmorphic lateral ventricles, mild progressive cerebellar atrophy; global profound developmental delay, asymmetric quadriparesis, generalized hypotonia, cortical visual impairment, nystagmus, dysphagia (no percutaneous endoscopic gastrostomy yet); scleralicterus Inheritance Isolated (sporadic) Age/Examination 1y8m (1 year, 8 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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