Global Variome shared LOVD

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Phenotype #0000180274 Individual ID 00240120 Associated disease SCAR Phenotype details SARA score: 24; cerebellar ataxia; no dysfunction upper motor neuron; dysfunction lower motor neuron (proximal); Reduced vibration sense, urge incontinence, bulging eyes, upper limb dystonia; MRI cerebellar atrophy Diagnosis/Initial cerebellar ataxia plus Inheritance Familial, autosomal recessive Diagnosis/Definite SCAR-8 Age/Examination 70y (70 years) Age/Diagnosis - Age/Onset 24y 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 2019-06-11 13:42:08 +02:00 (CEST) Date last edited N/A

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