Phenotype #0000171705

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00226593
Associated disease	THMD
Diagnosis/Initial	biotin responsive basal ganglia disease
Diagnosis/Definite	THMD-2
Phenotype details	encephalopathy, paroxysmal ataxia, hypotonia, tremor, dystonia, spasticity; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, lactate on MRS
Inheritance	Familial, autosomal recessive
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	2y
Phenotype/Onset	viral infection
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-03-09 21:20:59 +01:00 (CET)
Date last edited	N/A

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