Global Variome shared LOVD

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

Phenotype #0000171763 Individual ID 00226651 Associated disease THMD Diagnosis/Initial biotin responsive basal ganglia disease Diagnosis/Definite THMD-2 Phenotype details paroxysmal ataxia, dysarthria, movement disorder; neuroimaging abnormalities: caudate, corticosubcortical Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 3y6m 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 2019-03-09 21:20:59 +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.