Global Variome shared LOVD

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

Phenotype #0000357800 Individual ID 00473005 Associated disease ataxia Diagnosis/Initial hereditary ataxia Diagnosis/Definite - Phenotype details Ataxia; Lower limbs neuropathy extended to upper limbs; Distal Upper & lower limbs neuropathy & muscle weakness; Mild pes cavus; Dysarthria; Brain MRI: T2 hyperintense signal change in dentate nuclei; Mild SNHL in Rt. ear revealed in audiogram; Mild diastolic dysfunction in Echocardiogram. Inheritance Unknown Age/Examination 64y (64 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 (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.