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 InternationalCreative Commons License
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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