Global Variome shared LOVD

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Phenotype #0000351321 Individual ID 00465875 Associated disease ataxia Diagnosis/Initial Griscelli syndrome Diagnosis/Definite GS2 Phenotype details dysarthria, abnormal cerebellar morphology Inheritance Familial, autosomal recessive Age/Examination 48y (48 years) Age/Onset 46y Phenotype/Onset - Protein - Owner name Dr. Michael Kutsche Database submission license Creative Commons Attribution-NoDerivatives 4.0 International Created by Dr. Michael Kutsche Date created 2025-06-17 17:40:35 +02:00 (CEST) Date last edited 2025-08-11 11:09:58 +02:00 (CEST)

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