Global Variome shared LOVD

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

Phenotype #0000157557 Individual ID 00208950 Associated disease EAOH Phenotype details ataxic gait, dysmetria, diffuse distal leg and hand hypotrophy, absence of deep tendon reflexes (DTR), pes , cavus, with intact strength and sensation, dysarthria, difficulties in visual pursuit with ocular , esotropia, flaccid tetraplegia, severe hypotrophy, hypotonia and areflexia. severe axonal neuropathy more severe at the lower limbs. Severe cerebellar atrophy. 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 2015-07-28 16:00:27 +02:00 (CEST)

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