Global Variome shared LOVD

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

Phenotype #0000229955 Individual ID 00302877 Associated disease NBIA Phenotype details see paper; ..., 6m-onset seizures, spasms; EEG-14m hypsarrhythmia, high-amplitude slow waves and multifocal spikes; no neurological findings; intellectual disability; bed-ridden, no speech; MRI brain no iron deposition, cerebral atrophy, subdural hematoma Diagnosis/Initial West syndrome Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-02 21:08:08 +02:00 (CEST) Date last edited N/A

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