Global Variome shared LOVD

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Phenotype #0000325827 Individual ID 00435643 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 1d-jaundice; laryngomalacia (1y-supraglottoplasty) ; 2d-apnoeic seizures; 4m-epileptic spasms, 7y-focal hyperkinetic motor seizures with impaired awareness (seizure-free); EEG 7y slow background, bilateral independent or multifocal discharges, focal seizures recorded; MRI brain 1 week, 7m, 2y thin corpus callosum, abnormal myelination, dysmorphic asymmetric lateral ventricles, enlarged extracerebral spaces, progressive posteriorly predominant white matter abnormality, and cerebellar atrophy; global profound developmental delay, severe cortical visual impairment, nystagmus, spastic quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 2y); jaundice at birth Inheritance Isolated (sporadic) Age/Examination 8y (8 years) 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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