Phenotype #0000157561

Individual ID 00208954
Associated disease EAOH
Phenotype details Moderate gait limb ataxia, dysarthria, defects of saccadic initiation and distal weakness lower limbs and decreased vibration sense lower limbs. Mild muscular wasting. Nystagmus and deep tendon reflexes lower limbs absent.
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 InternationalCreative Commons License
Created by Rick van Minkelen
Date created 2013-06-07 11:18:43 +02:00 (CEST)
Date last edited 2015-07-28 15:34:08 +02:00 (CEST)

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