Global Variome shared LOVD

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

Phenotype #0000229920 Individual ID 00302839 Associated disease NBIA Phenotype details see paper; ..., slowly progressing Parkinsonism in adulthood, epilepsy, intellectual disability in childhood; MRI brain T2‐weighted low signal intensity areas globus pallidus and substantia nigra, T1‐weighted imaging halo in nigra Diagnosis/Initial slowly progressing parkinsonism Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 40y (40 years) 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 09:11:44 +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.