Global Variome shared LOVD

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

Phenotype #0000157550 Individual ID 00208943 Associated disease EAOH Phenotype details cerebellar ataxia, oculomotor apraxia, choria, dystonia face + hand, mental retardation, abolished tendon reflexes, severe motor deficit, severe distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, limb oedemam pes cavus, scoliosis 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 15:41:39 +02:00 (CEST)

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