Global Variome shared LOVD

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

Phenotype #0000357881 Individual ID 00473086 Associated disease ataxia Diagnosis/Initial hereditary ataxia Diagnosis/Definite - Phenotype details onset from 2y ago with seizures, tonic-clonic; Ataxia from 6-month ago; Difficulty heel & tip-toe walking; Hand tremor; Dysarthria; Echocardiogram: Mild TR; EMG-NCV: moderate sensorimotor axonal polyneuropathy, chronic mild to moderate neurogenic process. Inheritance Unknown Age/Examination 22y (22 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.