Global Variome shared LOVD

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

Phenotype #0000229845 Individual ID 00302763 Associated disease NBIA Phenotype details see paper; ..., peculiar facial appearance, mildly elevated serum enzymes, MRI brain iron accumulation Diagnosis/Initial Rett syndrome-like Inheritance Isolated (sporadic) Diagnosis/Definite NBIA5 Age/Examination 6y (6 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 2020-05-31 12:18:39 +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.