Global Variome shared LOVD

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Phenotype #0000180265 Individual ID 00240111 Associated disease SCAR Phenotype details SARA score: 15.5; cerebellar ataxia; dysfunction upper motor neuron, spastic gait; no dysfunction lower motor neuron; mild macroglossia; esotropia; MRI cerebellar atrophy Diagnosis/Initial cerebellar ataxia plus Inheritance Familial, autosomal recessive Diagnosis/Definite SCAR-8 Age/Examination 46y (46 years) Age/Diagnosis - Age/Onset 28y 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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