Global Variome shared LOVD

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

Phenotype #0000171726 Individual ID 00226614 Associated disease THMD Diagnosis/Initial biotin responsive basal ganglia disease Diagnosis/Definite THMD-2 Phenotype details encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, periqueductal, spinal cord, lactate on MRS; outcome: microcephaly, hypotonia, intellectual disability, dystonia Inheritance Familial, autosomal recessive Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset 1y 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.