Global Variome shared LOVD

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

Phenotype #0000347679 Individual ID 00459771 Associated disease AT Phenotype details 21m-ataxia; 4m15d-walk; telangiectasia; no malignancy; no respiratory disease; no immuno-deficiency Diagnosis/Initial ataxia Inheritance Familial, autosomal recessive Diagnosis/Definite AT Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset 21m-ataxia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-12 16:02:58 +01:00 (CET) Date last edited N/A

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