Global Variome shared LOVD

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

Phenotype #0000347523 Individual ID 00459449 Associated disease NDD Diagnosis/Initial neurodevelopmental delay, epilepsy Diagnosis/Definite - Phenotype details see paper; ..., 13y-onset seizures; twice generalized tonic-clonic seizures; treated seizure-free 2y; EEG generalized ploy-spike-slow and spike-slow waves; multifocal spike-slow waves; MRI brain normal; mild global developmental delay, intellectual disability, speech delay, motor delay, ASD Inheritance Familial, autosomal recessive 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 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.