Global Variome shared LOVD

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Phenotype #0000232953 Individual ID 00307148 Associated disease ataxia Diagnosis/Initial ataxia Diagnosis/Definite - Phenotype details pyramidal signs, abnormal sleep‐wake rhythm, vertical supranuclear gaze palsy, hepatosplenomegaly, elevated serum levels of cholesterol, uric acid and aminotransferases, mild cognitive decline; MRI brain generalized cortical and subcortical atrophy, cerebellar atrophy Inheritance Familial, autosomal recessive Age/Examination 34y (34 years) Age/Onset 06y 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 2020-08-05 09:27:16 +02:00 (CEST) Date last edited N/A

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