Global Variome shared LOVD

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

Phenotype #0000171701 Individual ID 00226589 Associated disease THMD Diagnosis/Initial Leigh Syndrome Diagnosis/Definite THMD-2 Phenotype details encephalopathy, hypotonia, tremor, dystonia, chorea, opistothonus, nystagmus, jaundice, liver disease, weight loss, respiratory failure, dysphagia, ataxia; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, lactate on MRS; 14m-deceased Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 13m Phenotype/Onset viral infection 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.