Global Variome shared LOVD

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

Phenotype #0000353152 Individual ID 00468000 Associated disease ataxia Diagnosis/Initial ataxic cerebral palsy Diagnosis/Definite SCA29 Phenotype details see paper; ..., birth at term, weight 2730g; no previous miscarriages; ataxia, intellectual disability; no clinical regression; moderate intellectual disability; MRI brain normal Inheritance Isolated (sporadic) Age/Examination 10y (10 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 2025-11-05 19:05:28 +01:00 (CET) Date last edited N/A

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