Global Variome shared LOVD

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

Phenotype #0000171752 Individual ID 00226640 Associated disease THMD Diagnosis/Initial biotin responsive basal ganglia disease Diagnosis/Definite THMD-2 Phenotype details encephalopathy, hypotonia, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem; outcome: hypotonia, intellectual disability, seizures Inheritance Familial, autosomal recessive Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset 3m 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.