Global Variome shared LOVD

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Phenotype #0000325831 Individual ID 00435647 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 2y-mild stable anaemia (no previous measurement available); retinal dystrophy; 2y6m-focal seizures; 3y-epileptic spasms in small clusters (weekly); EEG slow background, no epileptiform discharges in 4 EEG recordings; MRI brain 4m thin corpus callosum with absent splenium and delayed myelination, 6y 7m increased signal of white matter in watershed areas, generalized decrease of white matter volume; global profound developmental delay, wheelchair bound, quadriparesis, pseudobulbar signs, jerky involuntary movements, stereotypical movements and behavior, dysphagia (percutaneous endoscopic gastrostomy 3y), cortical visual impairment, nystagmus; mild anemia Inheritance Isolated (sporadic) Age/Examination 15y (15 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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