Global Variome shared LOVD

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Phenotype #0000157529 Individual ID 00208922 Associated disease EAOH Phenotype details gait ataxia, mild axial and limb ataxia, dysarthria, areflexia, loss of pallesthesia, cerebellar atrophy, decreased motor conduction in lower limbs, right extensor plantar response, mild upper limb dystonia, moderate ptosis of the left lid, pes cavus, Diagnosis/Initial Ataxia-ocular apraxia type 1 Inheritance Familial, autosomal recessive Diagnosis/Definite EAOH Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Sergio Piñeiro Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Rick van Minkelen Date created 2013-06-07 11:18:43 +02:00 (CEST) Date last edited 2015-07-29 13:34:39 +02:00 (CEST)

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