Global Variome shared LOVD

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

Phenotype #0000347526 Individual ID 00459452 Associated disease NDD Diagnosis/Initial neurodevelopmental delay, epilepsy Diagnosis/Definite - Phenotype details see paper; ..., 7m-onset seizures; complex partial seizure and generalized tonic-clonic seizures 1-4 times per month; treated seizure-free 3y; EEG spike and spike slow waves bilateral medial temporal and central region; MRI brain corpus callosum dysplasia, cerebral atrophy; severe global developmental delay, intellectual disability, speech delay, motor delay, cerebral palsy; cerebral palsy, asymmetrical eyes Inheritance Familial, autosomal recessive Age/Examination 8y (8 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.