Global Variome shared LOVD

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

Phenotype #0000358650 Individual ID 00473855 Associated disease ataxia Diagnosis/Initial hereditary ataxia Diagnosis/Definite - Phenotype details onset:12y with lower limbs weakness; Dysarthric speech since 3y ago; Long face; Prominent ears; Ataxia since 10y, Hand tremor; Dystonic posture in hand; Neuropathy; Flat foot; EDX: generalized sensory peripheral polyneuropathy (R/O Friedreich ataxia). Inheritance Unknown Age/Examination 18y (18 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

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