Global Variome shared LOVD

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

Phenotype #0000358247 Individual ID 00473452 Associated disease ataxia Diagnosis/Initial hereditary ataxia Diagnosis/Definite - Phenotype details two affected siblings, age 41y , started 4y with progressive spastic gait, cerebellar sign, unbalanced and uncoordinated gait and axonaltype sensorimotor polyneuropathy reported in NCV. Inheritance Unknown Age/Examination 41y (41 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.