Global Variome shared LOVD

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Phenotype #0000325823 Individual ID 00435639 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper, ..., 9y-deceased (pneumonia); 6m-mild anaemia, mildly increased platelets count, stable on yearly full blood count; osmotic fragility test; negative; 6m-/infantile spasms; spasms, myoclonic seizures, focal seizures with impaired awareness (daily); EEG 6m–8y slow background, bilateral independent discharges, epileptic spasms and myoclonic seizures; MRI brain 5m, 4y thin corpus callosum, colpocephaly, abnormal myelination, dysmorphic lateral ventricles, enlarged extracerebral spaces, progressive mild cerebellar atrophy, and watershed areas white matter abnormality; threatened preterm labor at 35w, global profound developmental delay, generalized hypotonia, plagiocephaly, nystagmus, dysphagia (percutaneous endoscopic gastrostomy 17m), dyskinesias; mild anemia 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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