Global Variome shared LOVD

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Phenotype #0000180277 Individual ID 00240123 Associated disease SCAR Phenotype details SARA score: 22; cerebellar ataxia; dysfunction upper motor neuron, spastic gait; dysfunction lower motor neuron; cognitive deficit (IQ=49), slow saccades, CK elevation, restrictive ventilatory defect, pes cavus; MRI cerebellar atrophy; peripheral neuropathy, motor axonal; EMG chronic neurogenic; MEOS abnormal upper and lower limb Diagnosis/Initial cerebellar ataxia plus Inheritance Familial, autosomal recessive Diagnosis/Definite SCAR-8 Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset 10y 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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