Phenotype #0000157563

Individual ID 00208956
Associated disease EAOH
Phenotype details ataxic gait, cerebellar ataxia, oculomotor apraxia, distal sensory disturbance, cerebellar atrophy, areflexia, distal muscle wasting, decreased motor nerve action potential, motor nerve conduction velocities and sensory action potentials
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 Rick van Minkelen
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Rick van Minkelen
Date created 2013-10-08 13:01:21 +02:00 (CEST)
Date last edited 2015-07-29 08:32:02 +02:00 (CEST)

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