Phenotype #0000171725 - Global Variome shared LOVD

Global Variome shared LOVD

TXNL4A (thioredoxin-like 4A)

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

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Phenotype #0000171725

Individual ID	00226613
Associated disease	THMD
Diagnosis/Initial	biotin responsive basal ganglia disease
Diagnosis/Definite	THMD-2
Phenotype details	encephalopathy, paroxysmal ataxia, hypotonia, dystonia, spasticity, dysarthria , dysphagia, seizure; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, lactate on MRS; outcome: paroxysmal ataxia
Inheritance	Familial, autosomal recessive
Age/Examination	10y1m (10 years, 1 month)
Age/Diagnosis	-
Age/Onset	5y
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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