Phenotype #0000157560

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00208953
Associated disease	EAOH
Phenotype details	Severe gait limb ataxia, dysarthria, defects of saccadic initiation and distal weakness lower limbs. Moderate muscular wasting. Mildchoreoathetosis, Mild distal weakness upper limbs, cognitive impairment and decreased vibration sense lower limbs. Nystagmus, 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
Created by	Rick van Minkelen
Date created	2013-06-07 11:18:43 +02:00 (CEST)
Date last edited	2015-07-28 15:29:45 +02:00 (CEST)