Global Variome shared LOVD

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

Phenotype #0000347528 Individual ID 00459454 Associated disease NDD Diagnosis/Initial neurodevelopmental delay, epilepsy Diagnosis/Definite - Phenotype details see paper; ..., 10y-onset seizures; generalized tonic-clonic seizures 4 times per year ; treated seizure-free 1y; EEG generalized ploy-spike-slow and spike-slow waves, and multifocal spike-slow waves; MRI brain normal; mild intellectual disability Inheritance Familial, autosomal recessive Age/Examination 16y (16 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 2025-01-05 10:54:19 +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.