Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000317221 Individual ID 00426057 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details 6m-onset seizures, no clinical seizures; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus; EEG history hypsarrhythmia, mild background slowing, focal spikes and polyspikes; MRI brain abnormal diffusion restriction attributed to vigabatrin toxicity, delayed myelination, mild enlargement of ventricles, small corpus callosum Inheritance Isolated (sporadic) Age/Examination 3y (3 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 2022-11-27 10:28:01 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.