Global Variome shared LOVD

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

Phenotype #0000317213 Individual ID 00426049 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details 2m-onset seizures, generalized epilepsy, epileptic spasms, myoclonic seizures, subclinical seizures, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; dystonic movement disorder, profound hypotonia, cortical visual impairment; EEG history hypsarrhythmia, multifocal SW, poorly organized background; MRI brain markedly decreased cerebral volume, deficiency of white matter, small brainstem and corpus callosum Inheritance Isolated (sporadic) Age/Examination 2y (2 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.