Phenotype #0000232955

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307150
Associated disease	ataxia
Diagnosis/Initial	ataxia
Diagnosis/Definite	-
Phenotype details	generalized dystonia, tremor, cognitive decline, increased serum lactate; MRI brain cerebellar atrophy
Inheritance	Familial, autosomal recessive
Age/Examination	27y (27 years)
Age/Onset	14y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-08-05 09:45:17 +02:00 (CEST)
Date last edited	N/A

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