Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000180267 Individual ID 00240113 Associated disease SCAR Phenotype details SARA score: 16.5; cerebellar ataxia; dysfunction upper motor neuron; dysfunction lower motor neuron; Strabism divergens, fasciculation face, fibrillation tongue, reduced vibration sense, depression, CK elevation; MRI cerebellar atrophy; no peripheral neuropathy; EMG chronic neurogenic; MEOS abnormal upper and lower limb Diagnosis/Initial cerebellar ataxia plus Inheritance Familial, autosomal recessive Diagnosis/Definite SCAR-8 Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 18y 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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