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 InternationalCreative Commons License
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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