Phenotype #0000157547

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00208940
Associated disease	EAOH
Phenotype details	cerebellar ataxia, dysexecurive syndrome, abolished tendon reflexes, severe motor deficit, moderate distal amyotrophy, decreased superficial sensory, moderate decreased vibration sense, 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
Created by	Rick van Minkelen
Date created	2013-06-07 11:18:43 +02:00 (CEST)
Date last edited	2015-07-29 15:48:58 +02:00 (CEST)

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